rs1321686

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0386 (11568/29912,GnomAD)
T=0350 (10192/29118,TOPMED)
T=0279 (1396/5008,1000G)
C==0495 (1909/3854,ALSPAC)
C==0489 (1813/3708,TWINSUK)
chr1:86508432 (GRCh38.p7) (1p22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.86508432C>T
GRCh37.p13 chr 1NC_000001.10:g.86974115C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.908T=0.092
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.843T=0.157
1000GenomesEuropeSub1006C=0.513T=0.487
1000GenomesGlobalStudy-wide5008C=0.721T=0.279
1000GenomesSouth AsianSub978C=0.650T=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.495T=0.505
The Genome Aggregation DatabaseAfricanSub8704C=0.834T=0.166
The Genome Aggregation DatabaseAmericanSub838C=0.550T=0.450
The Genome Aggregation DatabaseEast AsianSub1620C=0.851T=0.149
The Genome Aggregation DatabaseEuropeSub18448C=0.490T=0.509
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.613T=0.386
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.650T=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.489T=0.511
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs13216860.000972nicotine dependence17158188

eQTL of rs1321686 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 rs1321686 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 )
chr18695235786953713E067-20402
chr18696679286966896E067-7219
chr18697042386970632E067-3483
chr18697068386971396E067-2719
chr18695235786953713E068-20402
chr18697042386970632E068-3483
chr18697068386971396E068-2719
chr18701448087015091E06840365
chr18694109086941147E069-32968
chr18697042386970632E069-3483
chr18697068386971396E069-2719
chr18701448087015091E06940365
chr18697068386971396E070-2719
chr18695235786953713E071-20402
chr18697005586970139E071-3976
chr18697042386970632E071-3483
chr18697068386971396E071-2719
chr18697068386971396E072-2719
chr18701448087015091E07240365
chr18694109086941147E074-32968
chr18697005586970139E074-3976
chr18697042386970632E074-3483
chr18697068386971396E074-2719
chr18701448087015091E07440365
chr18697042386970632E082-3483
chr18697068386971396E082-2719








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr18696786986968323E068-5792
chr18696786986968323E072-5792