rs7016480

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0128 (3838/29952,GnomAD)
T=0141 (4120/29118,TOPMED)
T=0175 (878/5008,1000G)
T=0060 (232/3854,ALSPAC)
T=0048 (179/3708,TWINSUK)
chr8:100799162 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100799162C>T
GRCh37.p13 chr 8NC_000008.10:g.101811390C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.755T=0.245
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.711T=0.289
1000GenomesEuropeSub1006C=0.947T=0.053
1000GenomesGlobalStudy-wide5008C=0.825T=0.175
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8710C=0.761T=0.239
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1614C=0.686T=0.314
The Genome Aggregation DatabaseEuropeSub18488C=0.942T=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.871T=0.128
The Genome Aggregation DatabaseOtherSub302C=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.858T=0.141
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.952T=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
rs70164804.48E-05alcohol consumption23743675

eQTL of rs7016480 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 rs7016480 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 )
chr8101773554101775046E068-36344
chr8101847470101848214E06836080
chr8101762717101763214E071-48176
chr8101764400101764498E071-46892
chr8101764560101764751E071-46639
chr8101764770101764823E071-46567
chr8101803597101803661E072-7729
chr8101803758101804338E074-7052
chr8101804391101804510E074-6880
chr8101847470101848214E07436080
chr8101848259101848339E07436869
chr8101859230101859295E07447840
chr8101775773101775823E081-35567
chr8101775832101775882E081-35508
chr8101775951101776079E081-35311
chr8101803597101803661E081-7729
chr8101803758101804338E081-7052
chr8101804391101804510E081-6880
chr8101851627101851825E08140237
chr8101851845101851917E08140455
chr8101775334101775644E082-35746