rs4961216

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0098 (2941/29946,GnomAD)
C=0117 (3434/29118,TOPMED)
C=0123 (615/5008,1000G)
C=0053 (203/3854,ALSPAC)
C=0047 (175/3708,TWINSUK)
chr8:86748779 (GRCh38.p7) (8q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.86748779A>C
GRCh37.p13 chr 8NC_000008.10:g.87761007A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.763C=0.237
1000GenomesAmericanSub694A=0.890C=0.110
1000GenomesEast AsianSub1008A=0.885C=0.115
1000GenomesEuropeSub1006A=0.927C=0.073
1000GenomesGlobalStudy-wide5008A=0.877C=0.123
1000GenomesSouth AsianSub978A=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.947C=0.053
The Genome Aggregation DatabaseAfricanSub8720A=0.821C=0.179
The Genome Aggregation DatabaseAmericanSub834A=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1618A=0.865C=0.135
The Genome Aggregation DatabaseEuropeSub18472A=0.942C=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.901C=0.098
The Genome Aggregation DatabaseOtherSub302A=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.882C=0.117
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.953C=0.047
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
rs49612162.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs4961216 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 rs4961216 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 )
chr88773405987734246E067-26761
chr88773429487734461E067-26546
chr88771545487715548E068-45459
chr88779751187797921E06836504
chr88774187487742211E069-18796
chr88771604887716223E070-44784
chr88771625587716406E070-44601
chr88771645587716622E070-44385
chr88771678087716885E070-44122
chr88771691687716980E070-44027
chr88773405987734246E071-26761
chr88773429487734461E071-26546
chr88774187487742211E071-18796
chr88774242987742479E071-18528
chr88774249987742599E071-18408
chr88775717987757663E071-3344
chr88773405987734246E072-26761
chr88773429487734461E072-26546
chr88773405987734246E074-26761
chr88773429487734461E074-26546
chr88771325787713501E081-47506
chr88774461487744872E081-16135
chr88771625587716406E082-44601
chr88771848087719073E082-41934
chr88774187487742211E082-18796