rs2041692

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0237 (7113/29954,GnomAD)
C=0223 (6493/29118,TOPMED)
C=0300 (1503/5008,1000G)
C=0221 (852/3854,ALSPAC)
C=0217 (806/3708,TWINSUK)
chr3:172497847 (GRCh38.p7) (3q26.31)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.172497847T>C
GRCh37.p13 chr 3NC_000003.11:g.172215637T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.824C=0.176
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.488C=0.512
1000GenomesEuropeSub1006T=0.794C=0.206
1000GenomesGlobalStudy-wide5008T=0.700C=0.300
1000GenomesSouth AsianSub978T=0.610C=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.779C=0.221
The Genome Aggregation DatabaseAfricanSub8714T=0.816C=0.184
The Genome Aggregation DatabaseAmericanSub838T=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1616T=0.530C=0.470
The Genome Aggregation DatabaseEuropeSub18484T=0.756C=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.762C=0.237
The Genome Aggregation DatabaseOtherSub302T=0.810C=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.777C=0.223
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.783C=0.217
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20416920.000767alcohol dependence20201924

eQTL of rs2041692 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 rs2041692 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 )
chr3172195474172195538E067-20099
chr3172195474172195538E069-20099
chr3172194261172194499E071-21138
chr3172194261172194499E072-21138
chr3172234097172235163E07318460
chr3172194261172194499E074-21138
chr3172241727172241887E07426090






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3172194673172194713E067-20924
chr3172194888172195422E067-20215
chr3172240026172240427E06724389
chr3172240451172240499E06724814
chr3172240564172240717E06724927
chr3172194673172194713E068-20924
chr3172194888172195422E068-20215
chr3172240026172240427E06824389
chr3172240451172240499E06824814
chr3172240564172240717E06824927
chr3172240774172241613E06825137
chr3172194888172195422E069-20215
chr3172240026172240427E06924389
chr3172240451172240499E06924814
chr3172240564172240717E06924927
chr3172240774172241613E06925137
chr3172194888172195422E071-20215
chr3172240026172240427E07124389
chr3172240451172240499E07124814
chr3172240564172240717E07124927
chr3172240774172241613E07125137
chr3172194673172194713E072-20924
chr3172194888172195422E072-20215
chr3172240564172240717E07224927
chr3172240774172241613E07225137
chr3172194888172195422E073-20215
chr3172240026172240427E07324389
chr3172240451172240499E07324814
chr3172240564172240717E07324927
chr3172240774172241613E07325137
chr3172194673172194713E074-20924
chr3172194888172195422E074-20215
chr3172240026172240427E07424389
chr3172240451172240499E07424814
chr3172240564172240717E07424927
chr3172240564172240717E08224927