rs4761378

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0385 (11551/29936,GnomAD)
T==0376 (10953/29118,TOPMED)
T==0389 (1946/5008,1000G)
T==0425 (1639/3854,ALSPAC)
T==0428 (1588/3708,TWINSUK)
chr12:77412906 (GRCh38.p7) (12q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.77412906T>C
GRCh37.p13 chr 12NC_000012.11:g.77806686T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.243C=0.757
1000GenomesAmericanSub694T=0.430C=0.570
1000GenomesEast AsianSub1008T=0.534C=0.466
1000GenomesEuropeSub1006T=0.433C=0.567
1000GenomesGlobalStudy-wide5008T=0.389C=0.611
1000GenomesSouth AsianSub978T=0.360C=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.425C=0.575
The Genome Aggregation DatabaseAfricanSub8718T=0.276C=0.724
The Genome Aggregation DatabaseAmericanSub836T=0.430C=0.570
The Genome Aggregation DatabaseEast AsianSub1614T=0.553C=0.447
The Genome Aggregation DatabaseEuropeSub18468T=0.420C=0.580
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.385C=0.614
The Genome Aggregation DatabaseOtherSub300T=0.480C=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.376C=0.623
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.428C=0.572
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
rs47613783.3E-05alcoholism (heaviness of drinking)21529783

eQTL of rs4761378 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 rs4761378 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 )
chr127775825277758457E067-48229
chr127775856577758743E067-47943
chr127775882377758928E067-47758
chr127775899977759070E067-47616
chr127775907777759127E067-47559
chr127775825277758457E069-48229
chr127775965377759744E069-46942
chr127775979277759852E069-46834
chr127775677677756923E070-49763
chr127775825277758457E070-48229
chr127775856577758743E070-47943
chr127775882377758928E070-47758
chr127775899977759070E070-47616
chr127775979277759852E070-46834
chr127776057977760637E070-46049
chr127776467377764960E070-41726
chr127776857977768816E070-37870
chr127776998477770051E070-36635
chr127777378577773883E070-32803
chr127777771277777859E070-28827
chr127777792177778030E070-28656
chr127777817877778259E070-28427
chr127777830477778407E070-28279
chr127778106277781251E070-25435
chr127778131177781367E070-25319
chr127778147277781698E070-24988
chr127778183777781891E070-24795
chr127778237277782545E070-24141
chr127778616377786213E070-20473
chr127778799377788043E070-18643
chr127779491677795137E070-11549
chr127779801477798064E070-8622
chr127779903877799173E070-7513
chr127779967577799803E070-6883
chr127780002677800372E070-6314
chr127782695277827028E07020266
chr127782708877827138E07020402
chr127782722077827449E07020534
chr127779967577799803E071-6883
chr127780002677800372E071-6314
chr127776467377764960E081-41726
chr127776831977768535E081-38151
chr127778106277781251E081-25435
chr127778131177781367E081-25319
chr127778147277781698E081-24988
chr127778616377786213E081-20473
chr127775677677756923E082-49763
chr127775825277758457E082-48229
chr127775856577758743E082-47943
chr127776429177764615E082-42071
chr127776467377764960E082-41726
chr127776666477766704E082-39982
chr127778147277781698E082-24988
chr127778183777781891E082-24795
chr127782679977826850E08220113
chr127782695277827028E08220266
chr127782708877827138E08220402
chr127782722077827449E08220534
chr127782763277827712E08220946
chr127782776477827898E08221078
chr127783103677831362E08224350
chr127783143277831540E08224746
chr127783171977831778E08225033
chr127783182477831903E08225138