rs270184

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0208 (6253/29934,GnomAD)
C==0207 (6041/29118,TOPMED)
C==0275 (1379/5008,1000G)
C==0152 (585/3854,ALSPAC)
C==0156 (580/3708,TWINSUK)
chr5:5124466 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5124466C>T
GRCh37.p13 chr 5NC_000005.9:g.5124579C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.288T=0.712
1000GenomesAmericanSub694C=0.200T=0.800
1000GenomesEast AsianSub1008C=0.567T=0.433
1000GenomesEuropeSub1006C=0.166T=0.834
1000GenomesGlobalStudy-wide5008C=0.275T=0.725
1000GenomesSouth AsianSub978C=0.120T=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.152T=0.848
The Genome Aggregation DatabaseAfricanSub8694C=0.271T=0.729
The Genome Aggregation DatabaseAmericanSub838C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1614C=0.512T=0.488
The Genome Aggregation DatabaseEuropeSub18486C=0.150T=0.849
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.208T=0.791
The Genome Aggregation DatabaseOtherSub302C=0.240T=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.207T=0.792
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.156T=0.844
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs2701840.000108alcohol consumption23743675

eQTL of rs270184 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 rs270184 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 )
chr551423025142348E08217723
chr551423585142522E08217779

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr551397345141096E06715155
chr551411475141237E06716568
chr551412925141449E06716713
chr551414815141534E06716902
chr551397345141096E06815155
chr551411475141237E06816568
chr551412925141449E06816713
chr551414815141534E06816902
chr551394135139564E06914834
chr551397345141096E06915155
chr551411475141237E06916568
chr551412925141449E06916713
chr551397345141096E07115155
chr551412925141449E07116713
chr551414815141534E07116902
chr551397345141096E07215155
chr551411475141237E07216568
chr551412925141449E07216713
chr551397345141096E07315155
chr551411475141237E07416568
chr551412925141449E07416713
chr551412925141449E08116713
chr551414815141534E08116902
chr551397345141096E08215155