rs750379

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0194 (5832/29942,GnomAD)
T==0167 (4864/29118,TOPMED)
T==0131 (657/5008,1000G)
T==0249 (958/3854,ALSPAC)
T==0245 (909/3708,TWINSUK)
chr3:54077850 (GRCh38.p7) (3p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
68 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.54077850T>C
GRCh37.p13 chr 3NC_000003.11:g.54111877T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.020C=0.980
1000GenomesAmericanSub694T=0.250C=0.750
1000GenomesEast AsianSub1008T=0.080C=0.920
1000GenomesEuropeSub1006T=0.245C=0.755
1000GenomesGlobalStudy-wide5008T=0.131C=0.869
1000GenomesSouth AsianSub978T=0.140C=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.249C=0.751
The Genome Aggregation DatabaseAfricanSub8726T=0.053C=0.947
The Genome Aggregation DatabaseAmericanSub836T=0.310C=0.690
The Genome Aggregation DatabaseEast AsianSub1622T=0.088C=0.912
The Genome Aggregation DatabaseEuropeSub18456T=0.264C=0.735
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.194C=0.805
The Genome Aggregation DatabaseOtherSub302T=0.300C=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.167C=0.833
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.245C=0.755
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs7503793.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs750379 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 rs750379 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 )
chr35408727554087339E068-24538
chr35408734054087542E068-24335
chr35407873854078799E069-33078
chr35411338354113824E0811506
chr35411338354113824E0821506
chr35411386954114105E0821992
chr35411434454114569E0822467




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35415480754154968E06742930
chr35415497354155521E06743096
chr35415558354155776E06743706
chr35415581554156885E06743938
chr35415694754157293E06745070
chr35415743754157585E06745560
chr35415761154157962E06745734
chr35415800354158383E06746126
chr35415480754154968E06842930
chr35415497354155521E06843096
chr35415558354155776E06843706
chr35415581554156885E06843938
chr35415694754157293E06845070
chr35415743754157585E06845560
chr35415761154157962E06845734
chr35415800354158383E06846126
chr35415856054158672E06846683
chr35415897954159051E06847102
chr35415558354155776E06943706
chr35415581554156885E06943938
chr35415694754157293E06945070
chr35415743754157585E06945560
chr35415761154157962E06945734
chr35415800354158383E06946126
chr35415558354155776E07043706
chr35415581554156885E07043938
chr35415694754157293E07045070
chr35415581554156885E07143938
chr35415694754157293E07145070
chr35415743754157585E07145560
chr35415761154157962E07145734
chr35415480754154968E07242930
chr35415497354155521E07243096
chr35415558354155776E07243706
chr35415581554156885E07243938
chr35415694754157293E07245070
chr35415743754157585E07245560
chr35415761154157962E07245734
chr35415800354158383E07246126
chr35415856054158672E07246683
chr35415897954159051E07247102
chr35412155554122346E0739678
chr35415480754154968E07342930
chr35415497354155521E07343096
chr35415558354155776E07343706
chr35415581554156885E07343938
chr35415694754157293E07345070
chr35415743754157585E07345560
chr35415761154157962E07345734
chr35415800354158383E07346126
chr35415856054158672E07346683
chr35415897954159051E07347102
chr35415480754154968E07442930
chr35415497354155521E07443096
chr35415558354155776E07443706
chr35415581554156885E07443938
chr35415694754157293E07445070
chr35415743754157585E07445560
chr35415761154157962E07445734
chr35412155554122346E0829678
chr35415497354155521E08243096
chr35415558354155776E08243706
chr35415581554156885E08243938
chr35415694754157293E08245070
chr35415743754157585E08245560
chr35415761154157962E08245734
chr35415800354158383E08246126
chr35415856054158672E08246683