rs7721001

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0463 (13863/29904,GnomAD)
C==0393 (11464/29118,TOPMED)
C==0412 (2064/5008,1000G)
T=0454 (1750/3854,ALSPAC)
T=0461 (1711/3708,TWINSUK)
chr5:159223806 (GRCh38.p7) (5q33.3)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.159223806C>T
GRCh37.p13 chr 5NC_000005.9:g.158650814C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.192T=0.808
1000GenomesAmericanSub694C=0.410T=0.590
1000GenomesEast AsianSub1008C=0.551T=0.449
1000GenomesEuropeSub1006C=0.564T=0.436
1000GenomesGlobalStudy-wide5008C=0.412T=0.588
1000GenomesSouth AsianSub978C=0.410T=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.546T=0.454
The Genome Aggregation DatabaseAfricanSub8700C=0.244T=0.756
The Genome Aggregation DatabaseAmericanSub834C=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1606C=0.588T=0.412
The Genome Aggregation DatabaseEuropeSub18462C=0.556T=0.443
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.463T=0.536
The Genome Aggregation DatabaseOtherSub302C=0.530T=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.393T=0.606
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.539T=0.461
PMID Title Author Journal
17236132A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.Cargill MAm J Hum Genet
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs77210010.000676alcohol dependence24277619

eQTL of rs7721001 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 rs7721001 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 )
chr5158691749158691799E06740935
chr5158601873158602051E068-48763
chr5158602300158602373E068-48441
chr5158602601158602899E068-47915
chr5158611064158611137E068-39677
chr5158632035158632085E068-18729
chr5158631376158631426E069-19388
chr5158631376158631426E070-19388
chr5158632035158632085E070-18729
chr5158663079158663121E07012265
chr5158609717158610203E071-40611
chr5158610393158610505E071-40309
chr5158631376158631426E071-19388
chr5158631376158631426E072-19388
chr5158691749158691799E07340935
chr5158632035158632085E082-18729








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5158634362158638281E067-12533
chr5158689449158690909E06738635
chr5158634362158638281E068-12533
chr5158689449158690909E06838635
chr5158634362158638281E069-12533
chr5158689449158690909E06938635
chr5158634362158638281E070-12533
chr5158689449158690909E07038635
chr5158634362158638281E071-12533
chr5158689449158690909E07138635
chr5158634362158638281E072-12533
chr5158689449158690909E07238635
chr5158634362158638281E073-12533
chr5158689449158690909E07338635
chr5158634362158638281E074-12533
chr5158689449158690909E07438635
chr5158634362158638281E081-12533
chr5158634362158638281E082-12533
chr5158689449158690909E08238635