| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.110976657T>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.111414461T>G |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | T=1.000 | G=0.000 |
| 1000Genomes | American | Sub | 694 | T=1.000 | G=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.841 | G=0.159 |
| 1000Genomes | Europe | Sub | 1006 | T=1.000 | G=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.968 | G=0.032 |
| 1000Genomes | South Asian | Sub | 978 | T=1.000 | G=0.000 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.999 | G=0.001 |
| The Genome Aggregation Database | African | Sub | 8730 | T=1.000 | G=0.000 |
| The Genome Aggregation Database | American | Sub | 838 | T=1.000 | G=0.000 |
| The Genome Aggregation Database | East Asian | Sub | 1610 | T=0.779 | G=0.221 |
| The Genome Aggregation Database | Europe | Sub | 18502 | T=0.999 | G=0.000 |
| The Genome Aggregation Database | Global | Study-wide | 29982 | T=0.988 | G=0.011 |
| The Genome Aggregation Database | Other | Sub | 302 | T=1.000 | G=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.999 | G=0.000 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=1.000 | G=0.000 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 27437086 | Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. | Eom SY | Toxicol Res |
| 24142389 | Male-specific genetic effect on hypertension and metabolic disorders. | Heo SG | Hum Genet |
| 26675016 | A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. | Cha S | PLoS One |
| 26785701 | Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. | Wen W | Sci Rep |
| 25464127 | On the analysis of a repeated measure design in genome-wide association analysis. | Lee Y | Int J Environ Res Public Health |
| 28212632 | Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. | Eom SY | Environ Health |
| 23555315 | Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. | Haiman CA | PLoS Genet |
| 24861553 | Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. | Wen W | Hum Mol Genet |
| 21270382 | Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. | Baik I | Am J Clin Nutr |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12229654 | 3.09E-53 | alcohol (ever vs. never) | 23555315 |
| rs12229654 | 4.00E-35 | alcohol consumption | 21270382 |
| rs12229654 | 0.00000136 | alcohol consumption | 23555315 |
| 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 | 111403107 | 111403161 | E070 | -11300 |
| chr12 | 111403330 | 111403380 | E070 | -11081 |
| chr12 | 111405038 | 111405150 | E070 | -9311 |
| chr12 | 111405331 | 111405391 | E070 | -9070 |
| chr12 | 111400065 | 111400115 | E081 | -14346 |
| chr12 | 111402227 | 111402307 | E081 | -12154 |
| chr12 | 111402442 | 111402535 | E081 | -11926 |
| chr12 | 111402594 | 111402678 | E081 | -11783 |
| chr12 | 111403107 | 111403161 | E081 | -11300 |
| chr12 | 111403330 | 111403380 | E081 | -11081 |
| chr12 | 111403449 | 111404568 | E081 | -9893 |
| chr12 | 111405038 | 111405150 | E081 | -9311 |
| chr12 | 111406910 | 111407073 | E081 | -7388 |
| chr12 | 111409826 | 111409959 | E081 | -4502 |
| chr12 | 111449776 | 111449852 | E081 | 35315 |
| chr12 | 111449890 | 111450444 | E081 | 35429 |
| chr12 | 111462060 | 111462430 | E081 | 47599 |
| chr12 | 111462558 | 111462608 | E081 | 48097 |
| chr12 | 111462701 | 111462799 | E081 | 48240 |
| chr12 | 111463165 | 111463221 | E081 | 48704 |
| chr12 | 111463383 | 111463831 | E081 | 48922 |
| chr12 | 111400554 | 111401090 | E082 | -13371 |
| chr12 | 111402227 | 111402307 | E082 | -12154 |
| chr12 | 111402442 | 111402535 | E082 | -11926 |
| chr12 | 111402594 | 111402678 | E082 | -11783 |
| chr12 | 111403449 | 111404568 | E082 | -9893 |
| chr12 | 111405038 | 111405150 | E082 | -9311 |
| chr12 | 111462060 | 111462430 | E082 | 47599 |
| chr12 | 111462558 | 111462608 | E082 | 48097 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 111395064 | 111395114 | E067 | -19347 |
| chr12 | 111395201 | 111395263 | E067 | -19198 |
| chr12 | 111395523 | 111395738 | E067 | -18723 |
| chr12 | 111395888 | 111395992 | E067 | -18469 |
| chr12 | 111395064 | 111395114 | E068 | -19347 |
| chr12 | 111395201 | 111395263 | E068 | -19198 |
| chr12 | 111395523 | 111395738 | E068 | -18723 |
| chr12 | 111395888 | 111395992 | E068 | -18469 |
| chr12 | 111395201 | 111395263 | E072 | -19198 |
| chr12 | 111395523 | 111395738 | E072 | -18723 |
| chr12 | 111395888 | 111395992 | E072 | -18469 |