rs11066280

Homo sapiens
T>A
HECTD4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0016 (483/29542,GnomAD)
A=0001 (33/29118,TOPMED)
A=0045 (225/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr12:112379979 (GRCh38.p7) (12q24.13)
AD
GWASdb2
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.112379979T>A
GRCh37.p13 chr 12NC_000012.11:g.112817783T>A

Gene: HECTD4, HECT domain E3 ubiquitin protein ligase 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HECTD4 transcriptNM_001109662.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.999A=0.001
1000GenomesAmericanSub694T=1.000A=0.000
1000GenomesEast AsianSub1008T=0.784A=0.216
1000GenomesEuropeSub1006T=1.000A=0.000
1000GenomesGlobalStudy-wide5008T=0.955A=0.045
1000GenomesSouth AsianSub978T=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8694T=0.999A=0.001
The Genome Aggregation DatabaseAmericanSub816T=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1606T=0.707A=0.293
The Genome Aggregation DatabaseEuropeSub18126T=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29542T=0.983A=0.016
The Genome Aggregation DatabaseOtherSub300T=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.998A=0.001
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000A=0.000
PMID Title Author Journal
27437086Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.Eom SYToxicol Res
23629646Epidemiology of esophageal cancer in Japan and China.Lin YJ Epidemiol
27181629Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.Sakiyama MSci Rep
25133033Epidemiological studies of esophageal cancer in the era of genome-wide association studies.Wang AHWorld J Gastrointest Pathophysiol
24142389Male-specific genetic effect on hypertension and metabolic disorders.Heo SGHum Genet
26770579Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population.Jia XInt J Clin Exp Med
26891264No 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 JPLoS One
22507220Epidemiologic differences in esophageal cancer between Asian and Western populations.Zhang HZChin J Cancer
26675016A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans.Cha SPLoS One
21367945Genome-wide association studies of alcohol intake--a promising cocktail?Agrawal AAm J Clin Nutr
22865593Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.Bye HCarcinogenesis
25464127On the analysis of a repeated measure design in genome-wide association analysis.Lee YInt J Environ Res Public Health
28212632Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population.Eom SYEnviron Health
23364009Common variants at 12q24 are associated with drinking behavior in Han Chinese.Yang XAm J Clin Nutr
21572416Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.Kato NNat Genet
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet
28424424Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population.Fang QOncotarget

P-Value

SNP ID p-value Traits Study
rs110662802.94E-76alcohol (ever vs. never)23555315
rs110662802.76E-09alcohol consumption23555315

eQTL of rs11066280 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs11066280 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr12112778099112778255E067-39528
chr12112778272112778366E067-39417
chr12112778438112778488E067-39295
chr12112778881112779121E067-38662
chr12112779194112779579E067-38204
chr12112794991112795041E067-22742
chr12112795116112795362E067-22421
chr12112817087112817147E067-636
chr12112820933112821032E0673150
chr12112824472112824937E0676689
chr12112824974112825470E0677191
chr12112860204112860850E06742421
chr12112860940112860996E06743157
chr12112861924112861968E06744141
chr12112862199112862287E06744416
chr12112862406112862502E06744623
chr12112862576112862651E06744793
chr12112862897112862951E06745114
chr12112778099112778255E068-39528
chr12112778272112778366E068-39417
chr12112778438112778488E068-39295
chr12112778881112779121E068-38662
chr12112779194112779579E068-38204
chr12112785383112785831E068-31952
chr12112787249112787665E068-30118
chr12112787826112788027E068-29756
chr12112788107112788446E068-29337
chr12112788530112788671E068-29112
chr12112788780112789267E068-28516
chr12112794991112795041E068-22742
chr12112795116112795362E068-22421
chr12112817623112817729E068-54
chr12112817742112817832E0680
chr12112824472112824937E0686689
chr12112824974112825470E0687191
chr12112846000112846050E06828217
chr12112846100112846231E06828317
chr12112858211112858261E06840428
chr12112861924112861968E06844141
chr12112862199112862287E06844416
chr12112862406112862502E06844623
chr12112862576112862651E06844793
chr12112862897112862951E06845114
chr12112863641112863691E06845858
chr12112778881112779121E069-38662
chr12112779194112779579E069-38204
chr12112785383112785831E069-31952
chr12112788530112788671E069-29112
chr12112788780112789267E069-28516
chr12112806750112806962E069-10821
chr12112845790112845832E06928007
chr12112846000112846050E06928217
chr12112846100112846231E06928317
chr12112858211112858261E06940428
chr12112858451112858548E06940668
chr12112858554112858777E06940771
chr12112858875112858942E06941092
chr12112860204112860850E06942421
chr12112860940112860996E06943157
chr12112861924112861968E06944141
chr12112862199112862287E06944416
chr12112862406112862502E06944623
chr12112862576112862651E06944793
chr12112806750112806962E070-10821
chr12112844991112845078E07027208
chr12112845100112845156E07027317
chr12112845313112845353E07027530
chr12112858554112858777E07040771
chr12112779194112779579E071-38204
chr12112788530112788671E071-29112
chr12112788780112789267E071-28516
chr12112806750112806962E071-10821
chr12112844927112844977E07127144
chr12112844991112845078E07127208
chr12112845100112845156E07127317
chr12112845313112845353E07127530
chr12112845790112845832E07128007
chr12112846000112846050E07128217
chr12112846100112846231E07128317
chr12112849092112849654E07131309
chr12112858211112858261E07140428
chr12112858451112858548E07140668
chr12112858554112858777E07140771
chr12112858875112858942E07141092
chr12112861924112861968E07144141
chr12112862199112862287E07144416
chr12112862406112862502E07144623
chr12112862576112862651E07144793
chr12112778099112778255E072-39528
chr12112778272112778366E072-39417
chr12112778438112778488E072-39295
chr12112778881112779121E072-38662
chr12112779194112779579E072-38204
chr12112785383112785831E072-31952
chr12112806750112806962E072-10821
chr12112824472112824937E0726689
chr12112824974112825470E0727191
chr12112858211112858261E07240428
chr12112858451112858548E07240668
chr12112858554112858777E07240771
chr12112858875112858942E07241092
chr12112861924112861968E07244141
chr12112862199112862287E07244416
chr12112862406112862502E07244623
chr12112862576112862651E07244793
chr12112862897112862951E07245114
chr12112778099112778255E073-39528
chr12112778272112778366E073-39417
chr12112778438112778488E073-39295
chr12112778881112779121E073-38662
chr12112811740112812349E073-5434
chr12112845313112845353E07327530
chr12112858554112858777E07340771
chr12112858875112858942E07341092
chr12112861924112861968E07344141
chr12112862199112862287E07344416
chr12112862406112862502E07344623
chr12112862576112862651E07344793
chr12112779194112779579E074-38204
chr12112788530112788671E074-29112
chr12112788780112789267E074-28516
chr12112806750112806962E074-10821
chr12112846000112846050E07428217
chr12112846100112846231E07428317
chr12112849092112849654E07431309
chr12112858211112858261E07440428
chr12112858451112858548E07440668
chr12112858554112858777E07440771
chr12112858875112858942E07441092
chr12112860204112860850E07442421
chr12112860940112860996E07443157
chr12112861924112861968E07444141
chr12112862199112862287E07444416
chr12112862406112862502E07444623
chr12112862576112862651E07444793
chr12112768367112768503E081-49280
chr12112769800112769959E081-47824
chr12112778099112778255E081-39528
chr12112778272112778366E081-39417
chr12112778438112778488E081-39295
chr12112778881112779121E081-38662
chr12112779194112779579E081-38204
chr12112780033112780093E081-37690
chr12112780494112780665E081-37118
chr12112781179112781233E081-36550
chr12112781315112781430E081-36353
chr12112784324112784430E081-33353
chr12112784510112784618E081-33165
chr12112784713112784849E081-32934
chr12112784859112784919E081-32864
chr12112784992112785098E081-32685
chr12112785312112785375E081-32408
chr12112785383112785831E081-31952
chr12112786310112786378E081-31405
chr12112786412112786521E081-31262
chr12112786887112786937E081-30846
chr12112787249112787665E081-30118
chr12112787826112788027E081-29756
chr12112788107112788446E081-29337
chr12112788530112788671E081-29112
chr12112788780112789267E081-28516
chr12112808863112808913E081-8870
chr12112809055112809118E081-8665
chr12112824974112825470E0817191
chr12112844991112845078E08127208
chr12112845100112845156E08127317
chr12112845313112845353E08127530
chr12112845790112845832E08128007
chr12112846000112846050E08128217
chr12112846100112846231E08128317
chr12112855681112855742E08137898
chr12112858211112858261E08140428
chr12112858451112858548E08140668
chr12112858554112858777E08140771
chr12112768367112768503E082-49280
chr12112768510112768560E082-49223
chr12112768656112768858E082-48925
chr12112769181112769257E082-48526
chr12112769552112769612E082-48171
chr12112776713112776788E082-40995
chr12112777482112777532E082-40251
chr12112778881112779121E082-38662
chr12112779194112779579E082-38204
chr12112780033112780093E082-37690
chr12112780494112780665E082-37118
chr12112781179112781233E082-36550
chr12112783756112783806E082-33977
chr12112783856112784293E082-33490
chr12112784324112784430E082-33353
chr12112784510112784618E082-33165
chr12112784713112784849E082-32934
chr12112784859112784919E082-32864
chr12112784992112785098E082-32685
chr12112785312112785375E082-32408
chr12112785383112785831E082-31952
chr12112786310112786378E082-31405
chr12112786412112786521E082-31262
chr12112786887112786937E082-30846
chr12112788530112788671E082-29112
chr12112788780112789267E082-28516
chr12112789451112789558E082-28225
chr12112807859112808311E082-9472
chr12112808363112808454E082-9329
chr12112808863112808913E082-8870
chr12112816980112817050E082-733
chr12112817087112817147E082-636
chr12112858211112858261E08240428
chr12112858451112858548E08240668
chr12112858554112858777E08240771
chr12112860204112860850E08242421










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12112818421112820794E067638
chr12112846489112847797E06728706
chr12112856062112857928E06738279
chr12112818421112820794E068638
chr12112825508112825609E0687725
chr12112825682112825762E0687899
chr12112846489112847797E06828706
chr12112856062112857928E06838279
chr12112818421112820794E069638
chr12112846489112847797E06928706
chr12112856062112857928E06938279
chr12112818421112820794E070638
chr12112846489112847797E07028706
chr12112856062112857928E07038279
chr12112818421112820794E071638
chr12112846489112847797E07128706
chr12112856062112857928E07138279
chr12112818421112820794E072638
chr12112825508112825609E0727725
chr12112846489112847797E07228706
chr12112856062112857928E07238279
chr12112818421112820794E073638
chr12112846489112847797E07328706
chr12112856062112857928E07338279
chr12112818421112820794E074638
chr12112846489112847797E07428706
chr12112856062112857928E07438279
chr12112818421112820794E081638
chr12112856062112857928E08138279
chr12112818421112820794E082638
chr12112846489112847797E08228706
chr12112856062112857928E08238279