Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.133821515A>C |
GRCh37.p13 chr 3 | NC_000003.11:g.133540359A>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SRPRB transcript | NM_021203.3:c. | N/A | Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.138 | C=0.862 |
1000Genomes | American | Sub | 694 | A=0.340 | C=0.660 |
1000Genomes | East Asian | Sub | 1008 | A=0.283 | C=0.717 |
1000Genomes | Europe | Sub | 1006 | A=0.443 | C=0.557 |
1000Genomes | Global | Study-wide | 5008 | A=0.302 | C=0.698 |
1000Genomes | South Asian | Sub | 978 | A=0.370 | C=0.630 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.424 | C=0.576 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.307 | C=0.692 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.424 | C=0.576 |
PMID | Title | Author | Journal |
---|---|---|---|
21665994 | Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. | Kutalik Z | Hum Mol Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs6439442 | 2.62E-07 | alcohol consumption | 21665994 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr3 | 133562885 | 133562960 | E067 | 22526 |
chr3 | 133573215 | 133573347 | E067 | 32856 |
chr3 | 133573885 | 133574171 | E067 | 33526 |
chr3 | 133574725 | 133574824 | E067 | 34366 |
chr3 | 133575303 | 133575377 | E067 | 34944 |
chr3 | 133584047 | 133584242 | E067 | 43688 |
chr3 | 133587242 | 133587401 | E067 | 46883 |
chr3 | 133587644 | 133588157 | E067 | 47285 |
chr3 | 133588170 | 133588246 | E067 | 47811 |
chr3 | 133572273 | 133572376 | E068 | 31914 |
chr3 | 133572430 | 133572579 | E068 | 32071 |
chr3 | 133572588 | 133572638 | E068 | 32229 |
chr3 | 133573215 | 133573347 | E068 | 32856 |
chr3 | 133573885 | 133574171 | E068 | 33526 |
chr3 | 133574725 | 133574824 | E068 | 34366 |
chr3 | 133575303 | 133575377 | E068 | 34944 |
chr3 | 133584047 | 133584242 | E068 | 43688 |
chr3 | 133587242 | 133587401 | E068 | 46883 |
chr3 | 133587644 | 133588157 | E068 | 47285 |
chr3 | 133588170 | 133588246 | E068 | 47811 |
chr3 | 133540603 | 133541021 | E069 | 244 |
chr3 | 133541191 | 133541245 | E069 | 832 |
chr3 | 133572273 | 133572376 | E069 | 31914 |
chr3 | 133572430 | 133572579 | E069 | 32071 |
chr3 | 133572588 | 133572638 | E069 | 32229 |
chr3 | 133573215 | 133573347 | E069 | 32856 |
chr3 | 133573885 | 133574171 | E069 | 33526 |
chr3 | 133574725 | 133574824 | E069 | 34366 |
chr3 | 133575303 | 133575377 | E069 | 34944 |
chr3 | 133584047 | 133584242 | E069 | 43688 |
chr3 | 133587242 | 133587401 | E069 | 46883 |
chr3 | 133587644 | 133588157 | E069 | 47285 |
chr3 | 133588170 | 133588246 | E069 | 47811 |
chr3 | 133547093 | 133547193 | E070 | 6734 |
chr3 | 133547516 | 133547745 | E070 | 7157 |
chr3 | 133547924 | 133548172 | E070 | 7565 |
chr3 | 133572273 | 133572376 | E070 | 31914 |
chr3 | 133572430 | 133572579 | E070 | 32071 |
chr3 | 133572588 | 133572638 | E070 | 32229 |
chr3 | 133573215 | 133573347 | E070 | 32856 |
chr3 | 133573885 | 133574171 | E070 | 33526 |
chr3 | 133574725 | 133574824 | E070 | 34366 |
chr3 | 133575303 | 133575377 | E070 | 34944 |
chr3 | 133587242 | 133587401 | E070 | 46883 |
chr3 | 133587644 | 133588157 | E070 | 47285 |
chr3 | 133540337 | 133540417 | E071 | 0 |
chr3 | 133572273 | 133572376 | E071 | 31914 |
chr3 | 133572430 | 133572579 | E071 | 32071 |
chr3 | 133572588 | 133572638 | E071 | 32229 |
chr3 | 133573215 | 133573347 | E071 | 32856 |
chr3 | 133573885 | 133574171 | E071 | 33526 |
chr3 | 133574725 | 133574824 | E071 | 34366 |
chr3 | 133582903 | 133583150 | E071 | 42544 |
chr3 | 133584047 | 133584242 | E071 | 43688 |
chr3 | 133587242 | 133587401 | E071 | 46883 |
chr3 | 133587644 | 133588157 | E071 | 47285 |
chr3 | 133588170 | 133588246 | E071 | 47811 |
chr3 | 133573215 | 133573347 | E072 | 32856 |
chr3 | 133573885 | 133574171 | E072 | 33526 |
chr3 | 133574725 | 133574824 | E072 | 34366 |
chr3 | 133582298 | 133582380 | E072 | 41939 |
chr3 | 133584047 | 133584242 | E072 | 43688 |
chr3 | 133587242 | 133587401 | E072 | 46883 |
chr3 | 133587644 | 133588157 | E072 | 47285 |
chr3 | 133588170 | 133588246 | E072 | 47811 |
chr3 | 133540006 | 133540074 | E073 | -285 |
chr3 | 133540337 | 133540417 | E073 | 0 |
chr3 | 133540603 | 133541021 | E073 | 244 |
chr3 | 133541035 | 133541081 | E073 | 676 |
chr3 | 133541191 | 133541245 | E073 | 832 |
chr3 | 133572273 | 133572376 | E073 | 31914 |
chr3 | 133573215 | 133573347 | E073 | 32856 |
chr3 | 133573885 | 133574171 | E073 | 33526 |
chr3 | 133574725 | 133574824 | E073 | 34366 |
chr3 | 133575303 | 133575377 | E073 | 34944 |
chr3 | 133584047 | 133584242 | E073 | 43688 |
chr3 | 133587242 | 133587401 | E073 | 46883 |
chr3 | 133587644 | 133588157 | E073 | 47285 |
chr3 | 133588170 | 133588246 | E073 | 47811 |
chr3 | 133540006 | 133540074 | E074 | -285 |
chr3 | 133540337 | 133540417 | E074 | 0 |
chr3 | 133540603 | 133541021 | E074 | 244 |
chr3 | 133541035 | 133541081 | E074 | 676 |
chr3 | 133541191 | 133541245 | E074 | 832 |
chr3 | 133541431 | 133541497 | E074 | 1072 |
chr3 | 133541623 | 133541762 | E074 | 1264 |
chr3 | 133541910 | 133541964 | E074 | 1551 |
chr3 | 133572430 | 133572579 | E074 | 32071 |
chr3 | 133572588 | 133572638 | E074 | 32229 |
chr3 | 133573215 | 133573347 | E074 | 32856 |
chr3 | 133573885 | 133574171 | E074 | 33526 |
chr3 | 133574725 | 133574824 | E074 | 34366 |
chr3 | 133587242 | 133587401 | E074 | 46883 |
chr3 | 133587644 | 133588157 | E074 | 47285 |
chr3 | 133588170 | 133588246 | E074 | 47811 |
chr3 | 133526132 | 133526214 | E081 | -14145 |
chr3 | 133572273 | 133572376 | E081 | 31914 |
chr3 | 133573215 | 133573347 | E081 | 32856 |
chr3 | 133573885 | 133574171 | E081 | 33526 |
chr3 | 133574725 | 133574824 | E081 | 34366 |
chr3 | 133587242 | 133587401 | E081 | 46883 |
chr3 | 133588170 | 133588246 | E081 | 47811 |
chr3 | 133547516 | 133547745 | E082 | 7157 |
chr3 | 133547924 | 133548172 | E082 | 7565 |
chr3 | 133548284 | 133548391 | E082 | 7925 |
chr3 | 133572273 | 133572376 | E082 | 31914 |
chr3 | 133572430 | 133572579 | E082 | 32071 |
chr3 | 133572588 | 133572638 | E082 | 32229 |
chr3 | 133573215 | 133573347 | E082 | 32856 |
chr3 | 133573885 | 133574171 | E082 | 33526 |
chr3 | 133574725 | 133574824 | E082 | 34366 |
chr3 | 133575303 | 133575377 | E082 | 34944 |
chr3 | 133587242 | 133587401 | E082 | 46883 |
chr3 | 133587644 | 133588157 | E082 | 47285 |
chr3 | 133588170 | 133588246 | E082 | 47811 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 133524082 | 133525550 | E067 | -14809 |
chr3 | 133525588 | 133525634 | E067 | -14725 |
chr3 | 133524082 | 133525550 | E068 | -14809 |
chr3 | 133525588 | 133525634 | E068 | -14725 |
chr3 | 133524082 | 133525550 | E069 | -14809 |
chr3 | 133524082 | 133525550 | E070 | -14809 |
chr3 | 133525588 | 133525634 | E070 | -14725 |
chr3 | 133524082 | 133525550 | E071 | -14809 |
chr3 | 133525588 | 133525634 | E071 | -14725 |
chr3 | 133524082 | 133525550 | E072 | -14809 |
chr3 | 133525588 | 133525634 | E072 | -14725 |
chr3 | 133524082 | 133525550 | E073 | -14809 |
chr3 | 133525588 | 133525634 | E073 | -14725 |
chr3 | 133524082 | 133525550 | E074 | -14809 |
chr3 | 133525588 | 133525634 | E074 | -14725 |
chr3 | 133524082 | 133525550 | E081 | -14809 |
chr3 | 133525588 | 133525634 | E081 | -14725 |
chr3 | 133524082 | 133525550 | E082 | -14809 |
chr3 | 133525588 | 133525634 | E082 | -14725 |