rs60243676

Homo sapiens
C>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0127 (3816/29950,GnomAD)
G=0140 (4095/29118,TOPMED)
G=0175 (876/5008,1000G)
G=0060 (231/3854,ALSPAC)
G=0048 (179/3708,TWINSUK)
chr8:100797285 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100797285C>G
GRCh37.p13 chr 8NC_000008.10:g.101809513C>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.756G=0.244
1000GenomesAmericanSub694C=0.800G=0.200
1000GenomesEast AsianSub1008C=0.711G=0.289
1000GenomesEuropeSub1006C=0.948G=0.052
1000GenomesGlobalStudy-wide5008C=0.825G=0.175
1000GenomesSouth AsianSub978C=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940G=0.060
The Genome Aggregation DatabaseAfricanSub8710C=0.762G=0.238
The Genome Aggregation DatabaseAmericanSub834C=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1614C=0.687G=0.313
The Genome Aggregation DatabaseEuropeSub18490C=0.942G=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.872G=0.127
The Genome Aggregation DatabaseOtherSub302C=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.859G=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.952G=0.048
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
rs602436763.43E-05alcohol consumption23743675

eQTL of rs60243676 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 rs60243676 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 )
chr8101773554101775046E068-34467
chr8101847470101848214E06837957
chr8101762717101763214E071-46299
chr8101764400101764498E071-45015
chr8101764560101764751E071-44762
chr8101764770101764823E071-44690
chr8101803597101803661E072-5852
chr8101803758101804338E074-5175
chr8101804391101804510E074-5003
chr8101847470101848214E07437957
chr8101848259101848339E07438746
chr8101859230101859295E07449717
chr8101775773101775823E081-33690
chr8101775832101775882E081-33631
chr8101775951101776079E081-33434
chr8101803597101803661E081-5852
chr8101803758101804338E081-5175
chr8101804391101804510E081-5003
chr8101851627101851825E08142114
chr8101851845101851917E08142332
chr8101775334101775644E082-33869