| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.112379979T>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.112817783T>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HECTD4 transcript | NM_001109662.3:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | T=0.999 | A=0.001 |
| 1000Genomes | American | Sub | 694 | T=1.000 | A=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.784 | A=0.216 |
| 1000Genomes | Europe | Sub | 1006 | T=1.000 | A=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.955 | A=0.045 |
| 1000Genomes | South Asian | Sub | 978 | T=1.000 | A=0.000 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.999 | A=0.001 |
| The Genome Aggregation Database | African | Sub | 8694 | T=0.999 | A=0.001 |
| The Genome Aggregation Database | American | Sub | 816 | T=1.000 | A=0.000 |
| The Genome Aggregation Database | East Asian | Sub | 1606 | T=0.707 | A=0.293 |
| The Genome Aggregation Database | Europe | Sub | 18126 | T=0.999 | A=0.000 |
| The Genome Aggregation Database | Global | Study-wide | 29542 | T=0.983 | A=0.016 |
| The Genome Aggregation Database | Other | Sub | 300 | T=1.000 | A=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.998 | A=0.001 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=1.000 | A=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 |
| 23629646 | Epidemiology of esophageal cancer in Japan and China. | Lin Y | J Epidemiol |
| 27181629 | Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. | Sakiyama M | Sci Rep |
| 25133033 | Epidemiological studies of esophageal cancer in the era of genome-wide association studies. | Wang AH | World J Gastrointest Pathophysiol |
| 24142389 | Male-specific genetic effect on hypertension and metabolic disorders. | Heo SG | Hum Genet |
| 26770579 | Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population. | Jia X | Int J Clin Exp Med |
| 26891264 | No Interaction with Alcohol Consumption, but Independent Effect of C12orf51 (HECTD4) on Type 2 Diabetes Mellitus in Korean Adults Aged 40-69 Years: The KoGES_Ansan and Ansung Study. | Kim J | PLoS One |
| 22507220 | Epidemiologic differences in esophageal cancer between Asian and Western populations. | Zhang HZ | Chin J Cancer |
| 26675016 | A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. | Cha S | PLoS One |
| 21367945 | Genome-wide association studies of alcohol intake--a promising cocktail? | Agrawal A | Am J Clin Nutr |
| 22865593 | Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population. | Bye H | Carcinogenesis |
| 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 |
| 23364009 | Common variants at 12q24 are associated with drinking behavior in Han Chinese. | Yang X | Am J Clin Nutr |
| 21572416 | Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. | Kato N | Nat Genet |
| 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 |
| 28424424 | Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population. | Fang Q | Oncotarget |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs11066280 | 2.94E-76 | alcohol (ever vs. never) | 23555315 |
| rs11066280 | 2.76E-09 | 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 | 112778099 | 112778255 | E067 | -39528 |
| chr12 | 112778272 | 112778366 | E067 | -39417 |
| chr12 | 112778438 | 112778488 | E067 | -39295 |
| chr12 | 112778881 | 112779121 | E067 | -38662 |
| chr12 | 112779194 | 112779579 | E067 | -38204 |
| chr12 | 112794991 | 112795041 | E067 | -22742 |
| chr12 | 112795116 | 112795362 | E067 | -22421 |
| chr12 | 112817087 | 112817147 | E067 | -636 |
| chr12 | 112820933 | 112821032 | E067 | 3150 |
| chr12 | 112824472 | 112824937 | E067 | 6689 |
| chr12 | 112824974 | 112825470 | E067 | 7191 |
| chr12 | 112860204 | 112860850 | E067 | 42421 |
| chr12 | 112860940 | 112860996 | E067 | 43157 |
| chr12 | 112861924 | 112861968 | E067 | 44141 |
| chr12 | 112862199 | 112862287 | E067 | 44416 |
| chr12 | 112862406 | 112862502 | E067 | 44623 |
| chr12 | 112862576 | 112862651 | E067 | 44793 |
| chr12 | 112862897 | 112862951 | E067 | 45114 |
| chr12 | 112778099 | 112778255 | E068 | -39528 |
| chr12 | 112778272 | 112778366 | E068 | -39417 |
| chr12 | 112778438 | 112778488 | E068 | -39295 |
| chr12 | 112778881 | 112779121 | E068 | -38662 |
| chr12 | 112779194 | 112779579 | E068 | -38204 |
| chr12 | 112785383 | 112785831 | E068 | -31952 |
| chr12 | 112787249 | 112787665 | E068 | -30118 |
| chr12 | 112787826 | 112788027 | E068 | -29756 |
| chr12 | 112788107 | 112788446 | E068 | -29337 |
| chr12 | 112788530 | 112788671 | E068 | -29112 |
| chr12 | 112788780 | 112789267 | E068 | -28516 |
| chr12 | 112794991 | 112795041 | E068 | -22742 |
| chr12 | 112795116 | 112795362 | E068 | -22421 |
| chr12 | 112817623 | 112817729 | E068 | -54 |
| chr12 | 112817742 | 112817832 | E068 | 0 |
| chr12 | 112824472 | 112824937 | E068 | 6689 |
| chr12 | 112824974 | 112825470 | E068 | 7191 |
| chr12 | 112846000 | 112846050 | E068 | 28217 |
| chr12 | 112846100 | 112846231 | E068 | 28317 |
| chr12 | 112858211 | 112858261 | E068 | 40428 |
| chr12 | 112861924 | 112861968 | E068 | 44141 |
| chr12 | 112862199 | 112862287 | E068 | 44416 |
| chr12 | 112862406 | 112862502 | E068 | 44623 |
| chr12 | 112862576 | 112862651 | E068 | 44793 |
| chr12 | 112862897 | 112862951 | E068 | 45114 |
| chr12 | 112863641 | 112863691 | E068 | 45858 |
| chr12 | 112778881 | 112779121 | E069 | -38662 |
| chr12 | 112779194 | 112779579 | E069 | -38204 |
| chr12 | 112785383 | 112785831 | E069 | -31952 |
| chr12 | 112788530 | 112788671 | E069 | -29112 |
| chr12 | 112788780 | 112789267 | E069 | -28516 |
| chr12 | 112806750 | 112806962 | E069 | -10821 |
| chr12 | 112845790 | 112845832 | E069 | 28007 |
| chr12 | 112846000 | 112846050 | E069 | 28217 |
| chr12 | 112846100 | 112846231 | E069 | 28317 |
| chr12 | 112858211 | 112858261 | E069 | 40428 |
| chr12 | 112858451 | 112858548 | E069 | 40668 |
| chr12 | 112858554 | 112858777 | E069 | 40771 |
| chr12 | 112858875 | 112858942 | E069 | 41092 |
| chr12 | 112860204 | 112860850 | E069 | 42421 |
| chr12 | 112860940 | 112860996 | E069 | 43157 |
| chr12 | 112861924 | 112861968 | E069 | 44141 |
| chr12 | 112862199 | 112862287 | E069 | 44416 |
| chr12 | 112862406 | 112862502 | E069 | 44623 |
| chr12 | 112862576 | 112862651 | E069 | 44793 |
| chr12 | 112806750 | 112806962 | E070 | -10821 |
| chr12 | 112844991 | 112845078 | E070 | 27208 |
| chr12 | 112845100 | 112845156 | E070 | 27317 |
| chr12 | 112845313 | 112845353 | E070 | 27530 |
| chr12 | 112858554 | 112858777 | E070 | 40771 |
| chr12 | 112779194 | 112779579 | E071 | -38204 |
| chr12 | 112788530 | 112788671 | E071 | -29112 |
| chr12 | 112788780 | 112789267 | E071 | -28516 |
| chr12 | 112806750 | 112806962 | E071 | -10821 |
| chr12 | 112844927 | 112844977 | E071 | 27144 |
| chr12 | 112844991 | 112845078 | E071 | 27208 |
| chr12 | 112845100 | 112845156 | E071 | 27317 |
| chr12 | 112845313 | 112845353 | E071 | 27530 |
| chr12 | 112845790 | 112845832 | E071 | 28007 |
| chr12 | 112846000 | 112846050 | E071 | 28217 |
| chr12 | 112846100 | 112846231 | E071 | 28317 |
| chr12 | 112849092 | 112849654 | E071 | 31309 |
| chr12 | 112858211 | 112858261 | E071 | 40428 |
| chr12 | 112858451 | 112858548 | E071 | 40668 |
| chr12 | 112858554 | 112858777 | E071 | 40771 |
| chr12 | 112858875 | 112858942 | E071 | 41092 |
| chr12 | 112861924 | 112861968 | E071 | 44141 |
| chr12 | 112862199 | 112862287 | E071 | 44416 |
| chr12 | 112862406 | 112862502 | E071 | 44623 |
| chr12 | 112862576 | 112862651 | E071 | 44793 |
| chr12 | 112778099 | 112778255 | E072 | -39528 |
| chr12 | 112778272 | 112778366 | E072 | -39417 |
| chr12 | 112778438 | 112778488 | E072 | -39295 |
| chr12 | 112778881 | 112779121 | E072 | -38662 |
| chr12 | 112779194 | 112779579 | E072 | -38204 |
| chr12 | 112785383 | 112785831 | E072 | -31952 |
| chr12 | 112806750 | 112806962 | E072 | -10821 |
| chr12 | 112824472 | 112824937 | E072 | 6689 |
| chr12 | 112824974 | 112825470 | E072 | 7191 |
| chr12 | 112858211 | 112858261 | E072 | 40428 |
| chr12 | 112858451 | 112858548 | E072 | 40668 |
| chr12 | 112858554 | 112858777 | E072 | 40771 |
| chr12 | 112858875 | 112858942 | E072 | 41092 |
| chr12 | 112861924 | 112861968 | E072 | 44141 |
| chr12 | 112862199 | 112862287 | E072 | 44416 |
| chr12 | 112862406 | 112862502 | E072 | 44623 |
| chr12 | 112862576 | 112862651 | E072 | 44793 |
| chr12 | 112862897 | 112862951 | E072 | 45114 |
| chr12 | 112778099 | 112778255 | E073 | -39528 |
| chr12 | 112778272 | 112778366 | E073 | -39417 |
| chr12 | 112778438 | 112778488 | E073 | -39295 |
| chr12 | 112778881 | 112779121 | E073 | -38662 |
| chr12 | 112811740 | 112812349 | E073 | -5434 |
| chr12 | 112845313 | 112845353 | E073 | 27530 |
| chr12 | 112858554 | 112858777 | E073 | 40771 |
| chr12 | 112858875 | 112858942 | E073 | 41092 |
| chr12 | 112861924 | 112861968 | E073 | 44141 |
| chr12 | 112862199 | 112862287 | E073 | 44416 |
| chr12 | 112862406 | 112862502 | E073 | 44623 |
| chr12 | 112862576 | 112862651 | E073 | 44793 |
| chr12 | 112779194 | 112779579 | E074 | -38204 |
| chr12 | 112788530 | 112788671 | E074 | -29112 |
| chr12 | 112788780 | 112789267 | E074 | -28516 |
| chr12 | 112806750 | 112806962 | E074 | -10821 |
| chr12 | 112846000 | 112846050 | E074 | 28217 |
| chr12 | 112846100 | 112846231 | E074 | 28317 |
| chr12 | 112849092 | 112849654 | E074 | 31309 |
| chr12 | 112858211 | 112858261 | E074 | 40428 |
| chr12 | 112858451 | 112858548 | E074 | 40668 |
| chr12 | 112858554 | 112858777 | E074 | 40771 |
| chr12 | 112858875 | 112858942 | E074 | 41092 |
| chr12 | 112860204 | 112860850 | E074 | 42421 |
| chr12 | 112860940 | 112860996 | E074 | 43157 |
| chr12 | 112861924 | 112861968 | E074 | 44141 |
| chr12 | 112862199 | 112862287 | E074 | 44416 |
| chr12 | 112862406 | 112862502 | E074 | 44623 |
| chr12 | 112862576 | 112862651 | E074 | 44793 |
| chr12 | 112768367 | 112768503 | E081 | -49280 |
| chr12 | 112769800 | 112769959 | E081 | -47824 |
| chr12 | 112778099 | 112778255 | E081 | -39528 |
| chr12 | 112778272 | 112778366 | E081 | -39417 |
| chr12 | 112778438 | 112778488 | E081 | -39295 |
| chr12 | 112778881 | 112779121 | E081 | -38662 |
| chr12 | 112779194 | 112779579 | E081 | -38204 |
| chr12 | 112780033 | 112780093 | E081 | -37690 |
| chr12 | 112780494 | 112780665 | E081 | -37118 |
| chr12 | 112781179 | 112781233 | E081 | -36550 |
| chr12 | 112781315 | 112781430 | E081 | -36353 |
| chr12 | 112784324 | 112784430 | E081 | -33353 |
| chr12 | 112784510 | 112784618 | E081 | -33165 |
| chr12 | 112784713 | 112784849 | E081 | -32934 |
| chr12 | 112784859 | 112784919 | E081 | -32864 |
| chr12 | 112784992 | 112785098 | E081 | -32685 |
| chr12 | 112785312 | 112785375 | E081 | -32408 |
| chr12 | 112785383 | 112785831 | E081 | -31952 |
| chr12 | 112786310 | 112786378 | E081 | -31405 |
| chr12 | 112786412 | 112786521 | E081 | -31262 |
| chr12 | 112786887 | 112786937 | E081 | -30846 |
| chr12 | 112787249 | 112787665 | E081 | -30118 |
| chr12 | 112787826 | 112788027 | E081 | -29756 |
| chr12 | 112788107 | 112788446 | E081 | -29337 |
| chr12 | 112788530 | 112788671 | E081 | -29112 |
| chr12 | 112788780 | 112789267 | E081 | -28516 |
| chr12 | 112808863 | 112808913 | E081 | -8870 |
| chr12 | 112809055 | 112809118 | E081 | -8665 |
| chr12 | 112824974 | 112825470 | E081 | 7191 |
| chr12 | 112844991 | 112845078 | E081 | 27208 |
| chr12 | 112845100 | 112845156 | E081 | 27317 |
| chr12 | 112845313 | 112845353 | E081 | 27530 |
| chr12 | 112845790 | 112845832 | E081 | 28007 |
| chr12 | 112846000 | 112846050 | E081 | 28217 |
| chr12 | 112846100 | 112846231 | E081 | 28317 |
| chr12 | 112855681 | 112855742 | E081 | 37898 |
| chr12 | 112858211 | 112858261 | E081 | 40428 |
| chr12 | 112858451 | 112858548 | E081 | 40668 |
| chr12 | 112858554 | 112858777 | E081 | 40771 |
| chr12 | 112768367 | 112768503 | E082 | -49280 |
| chr12 | 112768510 | 112768560 | E082 | -49223 |
| chr12 | 112768656 | 112768858 | E082 | -48925 |
| chr12 | 112769181 | 112769257 | E082 | -48526 |
| chr12 | 112769552 | 112769612 | E082 | -48171 |
| chr12 | 112776713 | 112776788 | E082 | -40995 |
| chr12 | 112777482 | 112777532 | E082 | -40251 |
| chr12 | 112778881 | 112779121 | E082 | -38662 |
| chr12 | 112779194 | 112779579 | E082 | -38204 |
| chr12 | 112780033 | 112780093 | E082 | -37690 |
| chr12 | 112780494 | 112780665 | E082 | -37118 |
| chr12 | 112781179 | 112781233 | E082 | -36550 |
| chr12 | 112783756 | 112783806 | E082 | -33977 |
| chr12 | 112783856 | 112784293 | E082 | -33490 |
| chr12 | 112784324 | 112784430 | E082 | -33353 |
| chr12 | 112784510 | 112784618 | E082 | -33165 |
| chr12 | 112784713 | 112784849 | E082 | -32934 |
| chr12 | 112784859 | 112784919 | E082 | -32864 |
| chr12 | 112784992 | 112785098 | E082 | -32685 |
| chr12 | 112785312 | 112785375 | E082 | -32408 |
| chr12 | 112785383 | 112785831 | E082 | -31952 |
| chr12 | 112786310 | 112786378 | E082 | -31405 |
| chr12 | 112786412 | 112786521 | E082 | -31262 |
| chr12 | 112786887 | 112786937 | E082 | -30846 |
| chr12 | 112788530 | 112788671 | E082 | -29112 |
| chr12 | 112788780 | 112789267 | E082 | -28516 |
| chr12 | 112789451 | 112789558 | E082 | -28225 |
| chr12 | 112807859 | 112808311 | E082 | -9472 |
| chr12 | 112808363 | 112808454 | E082 | -9329 |
| chr12 | 112808863 | 112808913 | E082 | -8870 |
| chr12 | 112816980 | 112817050 | E082 | -733 |
| chr12 | 112817087 | 112817147 | E082 | -636 |
| chr12 | 112858211 | 112858261 | E082 | 40428 |
| chr12 | 112858451 | 112858548 | E082 | 40668 |
| chr12 | 112858554 | 112858777 | E082 | 40771 |
| chr12 | 112860204 | 112860850 | E082 | 42421 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 112818421 | 112820794 | E067 | 638 |
| chr12 | 112846489 | 112847797 | E067 | 28706 |
| chr12 | 112856062 | 112857928 | E067 | 38279 |
| chr12 | 112818421 | 112820794 | E068 | 638 |
| chr12 | 112825508 | 112825609 | E068 | 7725 |
| chr12 | 112825682 | 112825762 | E068 | 7899 |
| chr12 | 112846489 | 112847797 | E068 | 28706 |
| chr12 | 112856062 | 112857928 | E068 | 38279 |
| chr12 | 112818421 | 112820794 | E069 | 638 |
| chr12 | 112846489 | 112847797 | E069 | 28706 |
| chr12 | 112856062 | 112857928 | E069 | 38279 |
| chr12 | 112818421 | 112820794 | E070 | 638 |
| chr12 | 112846489 | 112847797 | E070 | 28706 |
| chr12 | 112856062 | 112857928 | E070 | 38279 |
| chr12 | 112818421 | 112820794 | E071 | 638 |
| chr12 | 112846489 | 112847797 | E071 | 28706 |
| chr12 | 112856062 | 112857928 | E071 | 38279 |
| chr12 | 112818421 | 112820794 | E072 | 638 |
| chr12 | 112825508 | 112825609 | E072 | 7725 |
| chr12 | 112846489 | 112847797 | E072 | 28706 |
| chr12 | 112856062 | 112857928 | E072 | 38279 |
| chr12 | 112818421 | 112820794 | E073 | 638 |
| chr12 | 112846489 | 112847797 | E073 | 28706 |
| chr12 | 112856062 | 112857928 | E073 | 38279 |
| chr12 | 112818421 | 112820794 | E074 | 638 |
| chr12 | 112846489 | 112847797 | E074 | 28706 |
| chr12 | 112856062 | 112857928 | E074 | 38279 |
| chr12 | 112818421 | 112820794 | E081 | 638 |
| chr12 | 112856062 | 112857928 | E081 | 38279 |
| chr12 | 112818421 | 112820794 | E082 | 638 |
| chr12 | 112846489 | 112847797 | E082 | 28706 |
| chr12 | 112856062 | 112857928 | E082 | 38279 |