| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.117127476G>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.117565281G>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TESC-AS1 transcript | NR_120464.1:n. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.238 | T=0.762 |
| 1000Genomes | American | Sub | 694 | G=0.520 | T=0.480 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.105 | T=0.895 |
| 1000Genomes | Europe | Sub | 1006 | G=0.453 | T=0.547 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.281 | T=0.719 |
| 1000Genomes | South Asian | Sub | 978 | G=0.170 | T=0.830 |
| The Genome Aggregation Database | African | Sub | 8694 | G=0.277 | T=0.723 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.530 | T=0.470 |
| The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.109 | T=0.891 |
| The Genome Aggregation Database | Europe | Sub | 18446 | G=0.428 | T=0.571 |
| The Genome Aggregation Database | Global | Study-wide | 29898 | G=0.370 | T=0.629 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.500 | T=0.500 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.384 | T=0.615 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs6490111 | 0.00058 | alcohol dependence | 20201924 |
| 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 ) |
|---|---|---|---|---|
| chr12 | 117529477 | 117529591 | E067 | -35690 |
| chr12 | 117559362 | 117559476 | E067 | -5805 |
| chr12 | 117559509 | 117559854 | E067 | -5427 |
| chr12 | 117583531 | 117583581 | E067 | 18250 |
| chr12 | 117583646 | 117583686 | E067 | 18365 |
| chr12 | 117583750 | 117583848 | E067 | 18469 |
| chr12 | 117584193 | 117584255 | E067 | 18912 |
| chr12 | 117602871 | 117602926 | E067 | 37590 |
| chr12 | 117603198 | 117603400 | E067 | 37917 |
| chr12 | 117604025 | 117604079 | E067 | 38744 |
| chr12 | 117522362 | 117522584 | E068 | -42697 |
| chr12 | 117522635 | 117522725 | E068 | -42556 |
| chr12 | 117522970 | 117523079 | E068 | -42202 |
| chr12 | 117523367 | 117523498 | E068 | -41783 |
| chr12 | 117523609 | 117523679 | E068 | -41602 |
| chr12 | 117523889 | 117523933 | E068 | -41348 |
| chr12 | 117524675 | 117524914 | E068 | -40367 |
| chr12 | 117524962 | 117525070 | E068 | -40211 |
| chr12 | 117525109 | 117525217 | E068 | -40064 |
| chr12 | 117556060 | 117556114 | E068 | -9167 |
| chr12 | 117556381 | 117556575 | E068 | -8706 |
| chr12 | 117556590 | 117557113 | E068 | -8168 |
| chr12 | 117557244 | 117557929 | E068 | -7352 |
| chr12 | 117558655 | 117558919 | E068 | -6362 |
| chr12 | 117559362 | 117559476 | E068 | -5805 |
| chr12 | 117559509 | 117559854 | E068 | -5427 |
| chr12 | 117562427 | 117562479 | E068 | -2802 |
| chr12 | 117562545 | 117562603 | E068 | -2678 |
| chr12 | 117582611 | 117582742 | E068 | 17330 |
| chr12 | 117583531 | 117583581 | E068 | 18250 |
| chr12 | 117583646 | 117583686 | E068 | 18365 |
| chr12 | 117583750 | 117583848 | E068 | 18469 |
| chr12 | 117584193 | 117584255 | E068 | 18912 |
| chr12 | 117584392 | 117584466 | E068 | 19111 |
| chr12 | 117556060 | 117556114 | E069 | -9167 |
| chr12 | 117562427 | 117562479 | E069 | -2802 |
| chr12 | 117578508 | 117578781 | E069 | 13227 |
| chr12 | 117578806 | 117578888 | E069 | 13525 |
| chr12 | 117578896 | 117578954 | E069 | 13615 |
| chr12 | 117582611 | 117582742 | E069 | 17330 |
| chr12 | 117582849 | 117583007 | E069 | 17568 |
| chr12 | 117583023 | 117583073 | E069 | 17742 |
| chr12 | 117583531 | 117583581 | E069 | 18250 |
| chr12 | 117583646 | 117583686 | E069 | 18365 |
| chr12 | 117583750 | 117583848 | E069 | 18469 |
| chr12 | 117584193 | 117584255 | E069 | 18912 |
| chr12 | 117584392 | 117584466 | E069 | 19111 |
| chr12 | 117602871 | 117602926 | E069 | 37590 |
| chr12 | 117603198 | 117603400 | E069 | 37917 |
| chr12 | 117549140 | 117550042 | E070 | -15239 |
| chr12 | 117556381 | 117556575 | E070 | -8706 |
| chr12 | 117556590 | 117557113 | E070 | -8168 |
| chr12 | 117558655 | 117558919 | E070 | -6362 |
| chr12 | 117559362 | 117559476 | E070 | -5805 |
| chr12 | 117559509 | 117559854 | E070 | -5427 |
| chr12 | 117523367 | 117523498 | E071 | -41783 |
| chr12 | 117540072 | 117540122 | E071 | -25159 |
| chr12 | 117540142 | 117540663 | E071 | -24618 |
| chr12 | 117578508 | 117578781 | E071 | 13227 |
| chr12 | 117583531 | 117583581 | E071 | 18250 |
| chr12 | 117583646 | 117583686 | E071 | 18365 |
| chr12 | 117583750 | 117583848 | E071 | 18469 |
| chr12 | 117584193 | 117584255 | E071 | 18912 |
| chr12 | 117584392 | 117584466 | E071 | 19111 |
| chr12 | 117589445 | 117589491 | E071 | 24164 |
| chr12 | 117589527 | 117590056 | E071 | 24246 |
| chr12 | 117602871 | 117602926 | E071 | 37590 |
| chr12 | 117522006 | 117522163 | E072 | -43118 |
| chr12 | 117522970 | 117523079 | E072 | -42202 |
| chr12 | 117523367 | 117523498 | E072 | -41783 |
| chr12 | 117524675 | 117524914 | E072 | -40367 |
| chr12 | 117564072 | 117564486 | E072 | -795 |
| chr12 | 117564549 | 117564619 | E072 | -662 |
| chr12 | 117582105 | 117582145 | E072 | 16824 |
| chr12 | 117582611 | 117582742 | E072 | 17330 |
| chr12 | 117582849 | 117583007 | E072 | 17568 |
| chr12 | 117583023 | 117583073 | E072 | 17742 |
| chr12 | 117583531 | 117583581 | E072 | 18250 |
| chr12 | 117583646 | 117583686 | E072 | 18365 |
| chr12 | 117583750 | 117583848 | E072 | 18469 |
| chr12 | 117584193 | 117584255 | E072 | 18912 |
| chr12 | 117588352 | 117588757 | E072 | 23071 |
| chr12 | 117599629 | 117599882 | E072 | 34348 |
| chr12 | 117600052 | 117600211 | E072 | 34771 |
| chr12 | 117602871 | 117602926 | E072 | 37590 |
| chr12 | 117603198 | 117603400 | E072 | 37917 |
| chr12 | 117556590 | 117557113 | E073 | -8168 |
| chr12 | 117557244 | 117557929 | E073 | -7352 |
| chr12 | 117559362 | 117559476 | E073 | -5805 |
| chr12 | 117559509 | 117559854 | E073 | -5427 |
| chr12 | 117578508 | 117578781 | E073 | 13227 |
| chr12 | 117582611 | 117582742 | E074 | 17330 |
| chr12 | 117583531 | 117583581 | E074 | 18250 |
| chr12 | 117589445 | 117589491 | E074 | 24164 |
| chr12 | 117589527 | 117590056 | E074 | 24246 |
| chr12 | 117602871 | 117602926 | E074 | 37590 |
| chr12 | 117603198 | 117603400 | E074 | 37917 |
| chr12 | 117531851 | 117531903 | E081 | -33378 |
| chr12 | 117549140 | 117550042 | E081 | -15239 |
| chr12 | 117550049 | 117550233 | E081 | -15048 |
| chr12 | 117556590 | 117557113 | E081 | -8168 |
| chr12 | 117558336 | 117558422 | E081 | -6859 |
| chr12 | 117558489 | 117558571 | E081 | -6710 |
| chr12 | 117558655 | 117558919 | E081 | -6362 |
| chr12 | 117559362 | 117559476 | E081 | -5805 |
| chr12 | 117559509 | 117559854 | E081 | -5427 |
| chr12 | 117562792 | 117563551 | E081 | -1730 |
| chr12 | 117571568 | 117572314 | E081 | 6287 |
| chr12 | 117559362 | 117559476 | E082 | -5805 |
| chr12 | 117559509 | 117559854 | E082 | -5427 |
| chr12 | 117562792 | 117563551 | E082 | -1730 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 117536024 | 117537772 | E067 | -27509 |
| chr12 | 117534688 | 117534784 | E068 | -30497 |
| chr12 | 117534823 | 117534929 | E068 | -30352 |
| chr12 | 117535782 | 117535900 | E068 | -29381 |
| chr12 | 117535921 | 117535961 | E068 | -29320 |
| chr12 | 117536024 | 117537772 | E068 | -27509 |
| chr12 | 117535782 | 117535900 | E069 | -29381 |
| chr12 | 117535921 | 117535961 | E069 | -29320 |
| chr12 | 117536024 | 117537772 | E069 | -27509 |
| chr12 | 117536024 | 117537772 | E071 | -27509 |
| chr12 | 117535782 | 117535900 | E072 | -29381 |
| chr12 | 117535921 | 117535961 | E072 | -29320 |
| chr12 | 117536024 | 117537772 | E072 | -27509 |
| chr12 | 117534688 | 117534784 | E073 | -30497 |
| chr12 | 117534823 | 117534929 | E073 | -30352 |
| chr12 | 117535782 | 117535900 | E073 | -29381 |
| chr12 | 117535921 | 117535961 | E073 | -29320 |
| chr12 | 117536024 | 117537772 | E073 | -27509 |
| chr12 | 117536024 | 117537772 | E074 | -27509 |
| chr12 | 117536024 | 117537772 | E082 | -27509 |