rs2703126

Homo sapiens
T>C
SOWAHB : 2KB Upstream Variant
LOC107986291 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0324 (9694/29918,GnomAD)
C=0298 (8689/29118,TOPMED)
C=0309 (1545/5008,1000G)
C=0296 (1142/3854,ALSPAC)
C=0277 (1028/3708,TWINSUK)
chr4:76898689 (GRCh38.p7) (4q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.76898689T>C
GRCh37.p13 chr 4NC_000004.11:g.77819842T>C

Gene: SOWAHB, sosondowah ankyrin repeat domain family member B(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
SOWAHB transcriptNM_001029870.1:c.N/AUpstream Transcript Variant

Gene: LOC107986291, uncharacterized LOC107986291(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986291 transcriptXR_001741737.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.607C=0.393
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.773C=0.227
1000GenomesEuropeSub1006T=0.665C=0.335
1000GenomesGlobalStudy-wide5008T=0.691C=0.309
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.704C=0.296
The Genome Aggregation DatabaseAfricanSub8706T=0.639C=0.361
The Genome Aggregation DatabaseAmericanSub838T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1616T=0.788C=0.212
The Genome Aggregation DatabaseEuropeSub18456T=0.679C=0.320
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.676C=0.324
The Genome Aggregation DatabaseOtherSub302T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.701C=0.298
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.723C=0.277
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
rs27031263E-05nicotine dependence (smoking)22377092

eQTL of rs2703126 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 rs2703126 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 )
chr47777689377778716E070-41126
chr47777965377779715E070-40127
chr47777973777779777E070-40065
chr47781550177815635E070-4207
chr47781576277816386E070-3456
chr47786845577868572E07048613
chr47781689077817039E072-2803
chr47777689377778716E073-41126
chr47781550177815635E081-4207
chr47781576277816386E081-3456
chr47781689077817039E081-2803
chr47782353477823997E0813692
chr47786845577868572E08148613
chr47777689377778716E082-41126
chr47781550177815635E082-4207
chr47781689077817039E082-2803





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47781776777817850E067-1992
chr47781785877818092E067-1750
chr47781816977818697E067-1145
chr47781871577819699E067-143
chr47781816977818697E068-1145
chr47781871577819699E068-143
chr47781776777817850E069-1992
chr47781785877818092E069-1750
chr47781816977818697E069-1145
chr47781871577819699E069-143
chr47781816977818697E070-1145
chr47781871577819699E070-143
chr47781816977818697E071-1145
chr47781871577819699E071-143
chr47781776777817850E072-1992
chr47781785877818092E072-1750
chr47781816977818697E072-1145
chr47781871577819699E072-143
chr47781776777817850E073-1992
chr47781785877818092E073-1750
chr47781816977818697E073-1145
chr47781871577819699E073-143
chr47781816977818697E074-1145
chr47781871577819699E074-143
chr47781776777817850E082-1992
chr47781785877818092E082-1750
chr47781816977818697E082-1145
chr47781871577819699E082-143