rs2074356

Homo sapiens
G>A
HECTD4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0009 (280/29976,GnomAD)
A=0000 (4/29118,TOPMED)
A=0026 (131/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr12:112207597 (GRCh38.p7) (12q24.13)
AD
GWASdb2
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.112207597G>A
GRCh37.p13 chr 12NC_000012.11:g.112645401G>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
1000GenomesAfricanSub1322G=1.000A=0.000
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=0.871A=0.129
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.974A=0.026
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8714G=1.000A=0.000
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1616G=0.828A=0.172
The Genome Aggregation DatabaseEuropeSub18506G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29976G=0.990A=0.009
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.999A=0.000
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
27923415Association of body mass index-related single nucleotide polymorphisms with psychiatric disease and memory performance in a Japanese population.Ninomiya-Baba MActa Neuropsychiatr
22865593Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.Bye HCarcinogenesis
21367945Genome-wide association studies of alcohol intake--a promising cocktail?Agrawal AAm J Clin Nutr
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
27480026Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension.Liu XSci Rep
21466928Genetics and epigenetics of obesity.Herrera BMMaturitas
26675016A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans.Cha SPLoS One
25464127On the analysis of a repeated measure design in genome-wide association analysis.Lee YInt J Environ Res Public Health
22043165Genetics of Obesity: What have we Learned?Choquet HCurr Genomics
26972231Associations Between Alcohol Consumption and Leukocyte Telomere Length Modified by a Common Polymorphism of ALDH2.Shin CAlcohol Clin Exp Res
26480920Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.Sung YJInt J Obes (Lond)
25133033Epidemiological studies of esophageal cancer in the era of genome-wide association studies.Wang AHWorld J Gastrointest Pathophysiol
25774817Genetics of type 2 diabetes-pitfalls and possibilities.Prasad RBGenes (Basel)
19396169A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.Cho YSNat Genet
22507220Epidemiologic differences in esophageal cancer between Asian and Western populations.Zhang HZChin J Cancer
27159875Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus.Kautzky-Willer AEndocr Rev
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
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
28339009Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.Yamada YInt J Mol Med
21270382Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.Baik IAm J Clin Nutr

P-Value

SNP ID p-value Traits Study
rs20743561.19E-75alcohol (ever vs. never)23555315
rs20743569.00E-59alcohol consumption21270382
rs20743566.42E-08alcohol consumption23555315

eQTL of rs2074356 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 rs2074356 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 )
chr12112600252112600346E067-45055
chr12112600519112600616E067-44785
chr12112600688112600759E067-44642
chr12112600858112600963E067-44438
chr12112620232112621765E067-23636
chr12112621832112621920E067-23481
chr12112622100112622189E067-23212
chr12112622404112622461E067-22940
chr12112622531112622663E067-22738
chr12112628888112629488E067-15913
chr12112629655112629829E067-15572
chr12112629851112630182E067-15219
chr12112630242112630363E067-15038
chr12112630815112630962E067-14439
chr12112630981112631035E067-14366
chr12112631044112631112E067-14289
chr12112631237112631323E067-14078
chr12112631407112631530E067-13871
chr12112631553112631607E067-13794
chr12112599686112599751E068-45650
chr12112600252112600346E068-45055
chr12112600519112600616E068-44785
chr12112600688112600759E068-44642
chr12112600858112600963E068-44438
chr12112614269112614424E068-30977
chr12112620232112621765E068-23636
chr12112621832112621920E068-23481
chr12112622100112622189E068-23212
chr12112622404112622461E068-22940
chr12112622531112622663E068-22738
chr12112623264112623569E068-21832
chr12112623672112623726E068-21675
chr12112629655112629829E068-15572
chr12112629851112630182E068-15219
chr12112599686112599751E069-45650
chr12112600252112600346E069-45055
chr12112600519112600616E069-44785
chr12112600688112600759E069-44642
chr12112600858112600963E069-44438
chr12112619426112619476E069-25925
chr12112620232112621765E069-23636
chr12112621832112621920E069-23481
chr12112622100112622189E069-23212
chr12112622404112622461E069-22940
chr12112622531112622663E069-22738
chr12112623264112623569E069-21832
chr12112623672112623726E069-21675
chr12112628436112628831E069-16570
chr12112628888112629488E069-15913
chr12112629655112629829E069-15572
chr12112629851112630182E069-15219
chr12112630242112630363E069-15038
chr12112630815112630962E069-14439
chr12112630981112631035E069-14366
chr12112631044112631112E069-14289
chr12112631237112631323E069-14078
chr12112631407112631530E069-13871
chr12112631553112631607E069-13794
chr12112620232112621765E070-23636
chr12112621832112621920E070-23481
chr12112622100112622189E070-23212
chr12112622404112622461E070-22940
chr12112622531112622663E070-22738
chr12112623264112623569E070-21832
chr12112623672112623726E070-21675
chr12112599289112599362E071-46039
chr12112599373112599496E071-45905
chr12112599543112599597E071-45804
chr12112599686112599751E071-45650
chr12112600252112600346E071-45055
chr12112600519112600616E071-44785
chr12112600688112600759E071-44642
chr12112600858112600963E071-44438
chr12112620232112621765E071-23636
chr12112621832112621920E071-23481
chr12112622100112622189E071-23212
chr12112622404112622461E071-22940
chr12112622531112622663E071-22738
chr12112623264112623569E071-21832
chr12112623672112623726E071-21675
chr12112629655112629829E071-15572
chr12112629851112630182E071-15219
chr12112630242112630363E071-15038
chr12112630815112630962E071-14439
chr12112630981112631035E071-14366
chr12112631044112631112E071-14289
chr12112631237112631323E071-14078
chr12112631407112631530E071-13871
chr12112631553112631607E071-13794
chr12112599289112599362E072-46039
chr12112599373112599496E072-45905
chr12112599543112599597E072-45804
chr12112599686112599751E072-45650
chr12112600252112600346E072-45055
chr12112600519112600616E072-44785
chr12112600688112600759E072-44642
chr12112600858112600963E072-44438
chr12112601321112601371E072-44030
chr12112620232112621765E072-23636
chr12112621832112621920E072-23481
chr12112622100112622189E072-23212
chr12112622404112622461E072-22940
chr12112622531112622663E072-22738
chr12112623264112623569E072-21832
chr12112623672112623726E072-21675
chr12112635994112636401E072-9000
chr12112636491112636551E072-8850
chr12112599373112599496E073-45905
chr12112599543112599597E073-45804
chr12112599686112599751E073-45650
chr12112620232112621765E073-23636
chr12112621832112621920E073-23481
chr12112622100112622189E073-23212
chr12112622404112622461E073-22940
chr12112622531112622663E073-22738
chr12112623264112623569E073-21832
chr12112623672112623726E073-21675
chr12112599686112599751E074-45650
chr12112600252112600346E074-45055
chr12112600519112600616E074-44785
chr12112600688112600759E074-44642
chr12112600858112600963E074-44438
chr12112601321112601371E074-44030
chr12112601425112601522E074-43879
chr12112601631112601681E074-43720
chr12112620232112621765E074-23636
chr12112621832112621920E074-23481
chr12112622100112622189E074-23212
chr12112622404112622461E074-22940
chr12112622531112622663E074-22738
chr12112623264112623569E074-21832
chr12112628888112629488E074-15913
chr12112629655112629829E074-15572
chr12112629851112630182E074-15219
chr12112630242112630363E074-15038
chr12112630815112630962E074-14439
chr12112630981112631035E074-14366
chr12112631044112631112E074-14289
chr12112631237112631323E074-14078
chr12112631407112631530E074-13871
chr12112631553112631607E074-13794
chr12112631869112631919E074-13482
chr12112623264112623569E081-21832