| geneid | 80341 |
|---|---|
| ensemblid | ENSG00000078898.7 |
| hgncid | 16177 |
| symbol | BPIFB2 |
| name | BPI fold containing family B member 2 |
| refseq_nuc | NM_025227.3 |
| refseq_prot | NP_079503.1 |
| ensembl_nuc | ENST00000170150.4 |
| ensembl_prot | ENSP00000170150.3 |
| mane_status | MANE Select |
| chr | chr20 |
| start | 33007704 |
| end | 33023703 |
| strand | + |
| ver | v1.2 |
| region | chr20:33007704-33023703 |
| region5000 | chr20:33002704-33028703 |
| regionname0 | BPIFB2_chr20_33007704_33023703 |
| regionname5000 | BPIFB2_chr20_33002704_33028703 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:33015964
|
G | A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 388 | 0.0026 | 0 | BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 6/15 | c.516+468G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 1/1 | a0001 | 458 | 345 | 81 | 64 | 148 | 14 | 36 | subcellular location copy fasta | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 1/1 | c0001 | 1377 | 200 | 35 | 45 | 86 | 7 | 25 | copy fasta | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 0/0 | t0004 | 355 | 1 | 0 | 0 | 0 | 0 | 1 | copy fasta | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 0/0 | g0047 | 1 | 0 | 0 | 0 | 0 | 1 | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 1/1 | a0001c0001 | 200 | 35 | 45 | 86 | 7 | 25 | 1377 | copy fasta | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 0/0 | a0001c0001t0004 | 1 | 0 | 0 | 0 | 0 | 1 | 1731 | copy fasta | chr20 | 33002704 | 33028703 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BPIFB2 | 0/0 | a0001c0001t0004g0047 | 1 | 0 | 0 | 0 | 0 | 1 | chr20 | 33002704 | 33028703 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 33007760 | + | 1 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33008541 | + | 2 | 0.9858 | 0.9858 | 0.9858 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33008683 | + | 2 | -0.9869 | -0.9869 | -0.9869 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33011024 | + | 3 | 0.9341 | 0.9341 | 0.9341 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33011117 | + | 3 | -0.9491 | -0.9491 | -0.9491 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33012803 | + | 4 | 0.9878 | 0.9878 | 0.9878 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33012907 | + | 4 | -0.9681 | -0.9681 | -0.9681 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33013810 | + | 5 | 0.9777 | 0.9777 | 0.9777 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33013956 | + | 5 | -0.9964 | -0.9964 | -0.9964 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33015436 | + | 6 | 0.8721 | 0.8721 | 0.8721 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33015496 | + | 6 | -0.8937 | -0.8937 | -0.8937 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33017042 | + | 7 | 0.9943 | 0.9943 | 0.9943 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33017102 | + | 7 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33018259 | + | 8 | 0.9957 | 0.9957 | 0.9957 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33018350 | + | 8 | -0.9902 | -0.9902 | -0.9902 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33018637 | + | 9 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33018822 | + | 9 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33019062 | + | 10 | 0.8693 | 0.8693 | 0.8693 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33019115 | + | 10 | -0.9345 | -0.9345 | -0.9345 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33019580 | + | 11 | 0.9933 | 0.9933 | 0.9933 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33019750 | + | 11 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33020328 | + | 12 | 0.6836 | 0.6836 | 0.6836 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33020395 | + | 12 | -0.3438 | -0.3438 | -0.3438 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33020542 | + | 13 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33020587 | + | 13 | -0.9907 | -0.9907 | -0.9907 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33021281 | + | 14 | 0.7133 | 0.7133 | 0.7133 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33021344 | + | 14 | -0.9728 | -0.9728 | -0.9728 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33021723 | + | 15 | 0.8605 | 0.8605 | 0.8605 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33021799 | + | 15 | -0.9918 | -0.9918 | -0.9918 | 0.0000 | acceptor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| 33023342 | + | 16 | 0.7515 | 0.7515 | 0.7515 | 0.0000 | donor | a0001c0001t0004g0047 | HG03491.hp1 | HG03491.hp1 | BPIFB2 | chr20 | 33002704 | 33028703 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 33028431:splice 33028431:variant goto | BPIFB2downstream_gene_variantc.*5048T>G< others(4): Show |
BPIFB4 Adipose_Subcutaneous 6.819 -0.186 | 71324139 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(134): Show | HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(252): Show |
0.562 | 479 | 623 | 10 | chr20_33028431_T_G_b38 | + | MODIFIER | chr20 | T | G | TogoVar |
| 33028431:splice 33028431:variant goto | BPIFB2downstream_gene_variantc.*5048T>G< others(4): Show |
BPIFB4 Pituitary 4.920 -0.276 | 71324139 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(134): Show | HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(252): Show |
0.539 | 214 | 287 | 10 | chr20_33028431_T_G_b38 | + | MODIFIER | chr20 | T | G | TogoVar |
| 33028431:splice 33028431:variant goto | BPIFB2downstream_gene_variantc.*5048T>G< others(4): Show |
BPIFB4 Thyroid 5.280 -0.208 | 71324139 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(134): Show | HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(252): Show |
0.575 | 444 | 579 | 10 | chr20_33028431_T_G_b38 | + | MODIFIER | chr20 | T | G | TogoVar |
| 33028431:splice 33028431:variant goto | BPIFB2downstream_gene_variantc.*5048T>G< others(4): Show |
MAPRE1 Whole_Blood 5.103 0.070 | 71324139 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(134): Show | HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(252): Show |
0.577 | 518 | 677 | 10 | chr20_33028431_T_G_b38 | + | MODIFIER | chr20 | T | G | TogoVar |
| 33028462:splice 33028462:variant goto | BPIFB2downstream_gene_variantc.*5079C>T< others(4): Show |
BPIFB2 Breast_Mammary_Tissue 4.765 0.292 | 34612 | a0001a0002a0004 | a0001c0001a0001c0002a0002c0003a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0039a0001c0001t0002g0027a0001c0001t0002g0060others(7): Show | HG01109.hp2 HG01496.hp2 HG01993.hp1 HG02257.hp1 HG02615.hp1 others(13): Show |
0.147 | 142 | 150 | 10 | chr20_33028462_C_T_b38 | + | MODIFIER | chr20 | C | T | TogoVar |
| 33028462:splice 33028462:variant goto | BPIFB2downstream_gene_variantc.*5079C>T< others(4): Show |
BPIFB4 Nerve_Tibial 4.851 0.257 | 34612 | a0001a0002a0004 | a0001c0001a0001c0002a0002c0003a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0039a0001c0001t0002g0027a0001c0001t0002g0060others(7): Show | HG01109.hp2 HG01496.hp2 HG01993.hp1 HG02257.hp1 HG02615.hp1 others(13): Show |
0.144 | 180 | 192 | 10 | chr20_33028462_C_T_b38 | + | MODIFIER | chr20 | C | T | TogoVar |