rs263548

Homo sapiens
C>A
LOC105375983 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0397 (11785/29678,GnomAD)
A=0404 (11783/29118,TOPMED)
A=0433 (2169/5008,1000G)
A=0340 (1309/3854,ALSPAC)
A=0360 (1334/3708,TWINSUK)
chr9:17028237 (GRCh38.p7) (9p22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.17028237C>A
GRCh37.p13 chr 9NC_000009.11:g.17028235C>A

Gene: LOC105375983, uncharacterized LOC105375983(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375983 transcript variant X1XR_001746628.1:n.N/AIntron Variant
LOC105375983 transcript variant X2XR_001746629.1:n.N/AIntron Variant
LOC105375983 transcript variant X3XR_001746630.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.563A=0.437
1000GenomesAmericanSub694C=0.530A=0.470
1000GenomesEast AsianSub1008C=0.496A=0.504
1000GenomesEuropeSub1006C=0.648A=0.352
1000GenomesGlobalStudy-wide5008C=0.567A=0.433
1000GenomesSouth AsianSub978C=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.660A=0.340
The Genome Aggregation DatabaseAfricanSub8688C=0.549A=0.451
The Genome Aggregation DatabaseAmericanSub832C=0.520A=0.480
The Genome Aggregation DatabaseEast AsianSub1614C=0.489A=0.511
The Genome Aggregation DatabaseEuropeSub18242C=0.641A=0.358
The Genome Aggregation DatabaseGlobalStudy-wide29678C=0.602A=0.397
The Genome Aggregation DatabaseOtherSub302C=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.595A=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.640A=0.360
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs2635485.32E-05nicotine dependence (smoking)22377092

eQTL of rs263548 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 rs263548 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 )
chr91701769717019032E070-9203
chr91698570216985811E081-42424
chr91698593416986427E081-41808
chr91698655616987474E081-40761
chr91698749116987639E081-40596