rs12634193

Homo sapiens
T>C
LOC102724479 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0225 (6756/29950,GnomAD)
T==0203 (5911/29118,TOPMED)
T==0229 (1149/5008,1000G)
T==0244 (940/3854,ALSPAC)
T==0261 (967/3708,TWINSUK)
chr3:171462896 (GRCh38.p7) (3q26.31)
ND
GWASdb2
1   publication(s)
See rs on genome
223 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.171462896T>C
GRCh37.p13 chr 3NC_000003.11:g.171180685T>C

Gene: LOC102724479, uncharacterized LOC102724479(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102724479 transcript variant X1XR_001740531.1:n.N/AIntron Variant
LOC102724479 transcript variant X2XR_924707.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.144C=0.856
1000GenomesAmericanSub694T=0.270C=0.730
1000GenomesEast AsianSub1008T=0.241C=0.759
1000GenomesEuropeSub1006T=0.246C=0.754
1000GenomesGlobalStudy-wide5008T=0.229C=0.771
1000GenomesSouth AsianSub978T=0.290C=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.244C=0.756
The Genome Aggregation DatabaseAfricanSub8724T=0.159C=0.841
The Genome Aggregation DatabaseAmericanSub836T=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1618T=0.239C=0.761
The Genome Aggregation DatabaseEuropeSub18470T=0.253C=0.747
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.225C=0.774
The Genome Aggregation DatabaseOtherSub302T=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.203C=0.797
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.261C=0.739
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs126341936.05E-05alcohol and nictotine co-dependence20158304

eQTL of rs12634193 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 rs12634193 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 )
chr3171134040171134149E067-46536
chr3171135105171135247E067-45438
chr3171135415171136036E067-44649
chr3171137109171137757E067-42928
chr3171138634171138721E067-41964
chr3171139217171139311E067-41374
chr3171146048171146637E067-34048
chr3171146835171146940E067-33745
chr3171147344171147404E067-33281
chr3171147485171147798E067-32887
chr3171155247171155304E067-25381
chr3171155369171155467E067-25218
chr3171155522171155588E067-25097
chr3171155631171155760E067-24925
chr3171159986171160247E067-20438
chr3171160487171160548E067-20137
chr3171160599171161336E067-19349
chr3171161363171161403E067-19282
chr3171165136171165550E067-15135
chr3171169863171169955E067-10730
chr3171170116171170500E067-10185
chr3171170939171170983E067-9702
chr3171171042171171331E067-9354
chr3171171342171171539E067-9146
chr3171171570171171828E067-8857
chr3171171912171172440E067-8245
chr3171174309171174492E067-6193
chr3171131227171131331E068-49354
chr3171131630171131680E068-49005
chr3171132320171132419E068-48266
chr3171132997171133555E068-47130
chr3171134040171134149E068-46536
chr3171135105171135247E068-45438
chr3171135415171136036E068-44649
chr3171136086171136186E068-44499
chr3171136949171137030E068-43655
chr3171137109171137757E068-42928
chr3171138634171138721E068-41964
chr3171139217171139311E068-41374
chr3171140739171140907E068-39778
chr3171145011171145133E068-35552
chr3171145572171145629E068-35056
chr3171145653171145788E068-34897
chr3171145844171146036E068-34649
chr3171146048171146637E068-34048
chr3171146835171146940E068-33745
chr3171147344171147404E068-33281
chr3171147485171147798E068-32887
chr3171149986171150090E068-30595
chr3171150191171150386E068-30299
chr3171150466171150589E068-30096
chr3171155247171155304E068-25381
chr3171155369171155467E068-25218
chr3171155522171155588E068-25097
chr3171155631171155760E068-24925
chr3171156193171156243E068-24442
chr3171159986171160247E068-20438
chr3171160487171160548E068-20137
chr3171161363171161403E068-19282
chr3171163238171163331E068-17354
chr3171163374171163454E068-17231
chr3171163755171163833E068-16852
chr3171164111171164161E068-16524
chr3171165136171165550E068-15135
chr3171166001171166070E068-14615
chr3171166137171166536E068-14149
chr3171169863171169955E068-10730
chr3171170116171170500E068-10185
chr3171170939171170983E068-9702
chr3171171570171171828E068-8857
chr3171171912171172440E068-8245
chr3171173516171173631E068-7054
chr3171131227171131331E069-49354
chr3171131630171131680E069-49005
chr3171134040171134149E069-46536
chr3171135105171135247E069-45438
chr3171135415171136036E069-44649
chr3171136949171137030E069-43655
chr3171137109171137757E069-42928
chr3171138634171138721E069-41964
chr3171139217171139311E069-41374
chr3171145572171145629E069-35056
chr3171145653171145788E069-34897
chr3171145844171146036E069-34649
chr3171146048171146637E069-34048
chr3171146835171146940E069-33745
chr3171147344171147404E069-33281
chr3171147485171147798E069-32887
chr3171155247171155304E069-25381
chr3171155369171155467E069-25218
chr3171155522171155588E069-25097
chr3171159986171160247E069-20438
chr3171160487171160548E069-20137
chr3171169863171169955E069-10730
chr3171170116171170500E069-10185
chr3171170939171170983E069-9702
chr3171171042171171331E069-9354
chr3171171342171171539E069-9146
chr3171171570171171828E069-8857
chr3171171912171172440E069-8245
chr3171173901171174013E069-6672
chr3171174080171174164E069-6521
chr3171174309171174492E069-6193
chr3171160599171161336E070-19349
chr3171135105171135247E071-45438
chr3171135415171136036E071-44649
chr3171136949171137030E071-43655
chr3171137109171137757E071-42928
chr3171138634171138721E071-41964
chr3171146048171146637E071-34048
chr3171146835171146940E071-33745
chr3171159986171160247E071-20438
chr3171160487171160548E071-20137
chr3171160599171161336E071-19349
chr3171161363171161403E071-19282
chr3171163755171163833E071-16852
chr3171164111171164161E071-16524
chr3171165136171165550E071-15135
chr3171169863171169955E071-10730
chr3171170116171170500E071-10185
chr3171170939171170983E071-9702
chr3171171342171171539E071-9146
chr3171171570171171828E071-8857
chr3171171912171172440E071-8245
chr3171173516171173631E071-7054
chr3171173685171173739E071-6946
chr3171173901171174013E071-6672
chr3171174080171174164E071-6521
chr3171174309171174492E071-6193
chr3171131227171131331E072-49354
chr3171132997171133555E072-47130
chr3171134040171134149E072-46536
chr3171135415171136036E072-44649
chr3171136949171137030E072-43655
chr3171137109171137757E072-42928
chr3171138634171138721E072-41964
chr3171139217171139311E072-41374
chr3171145572171145629E072-35056
chr3171145653171145788E072-34897
chr3171145844171146036E072-34649
chr3171146048171146637E072-34048
chr3171146835171146940E072-33745
chr3171147344171147404E072-33281
chr3171147485171147798E072-32887
chr3171150191171150386E072-30299
chr3171150466171150589E072-30096
chr3171155247171155304E072-25381
chr3171155369171155467E072-25218
chr3171159986171160247E072-20438
chr3171160487171160548E072-20137
chr3171163374171163454E072-17231
chr3171163755171163833E072-16852
chr3171169863171169955E072-10730
chr3171170116171170500E072-10185
chr3171170939171170983E072-9702
chr3171171042171171331E072-9354
chr3171171342171171539E072-9146
chr3171171570171171828E072-8857
chr3171173516171173631E072-7054
chr3171173685171173739E072-6946
chr3171173901171174013E072-6672
chr3171174080171174164E072-6521
chr3171174309171174492E072-6193
chr3171140739171140907E073-39778
chr3171145844171146036E073-34649
chr3171146048171146637E073-34048
chr3171146835171146940E073-33745
chr3171147344171147404E073-33281
chr3171147485171147798E073-32887
chr3171155247171155304E073-25381
chr3171155369171155467E073-25218
chr3171160487171160548E073-20137
chr3171160599171161336E073-19349
chr3171163374171163454E073-17231
chr3171163755171163833E073-16852
chr3171171042171171331E073-9354
chr3171171342171171539E073-9146
chr3171171570171171828E073-8857
chr3171174309171174492E073-6193
chr3171135415171136036E074-44649
chr3171136086171136186E074-44499
chr3171136949171137030E074-43655
chr3171137109171137757E074-42928
chr3171138634171138721E074-41964
chr3171139217171139311E074-41374
chr3171145844171146036E074-34649
chr3171146048171146637E074-34048
chr3171155247171155304E074-25381
chr3171155369171155467E074-25218
chr3171157938171158103E074-22582
chr3171160487171160548E074-20137
chr3171163374171163454E074-17231
chr3171163755171163833E074-16852
chr3171169863171169955E074-10730
chr3171170116171170500E074-10185
chr3171170939171170983E074-9702
chr3171171042171171331E074-9354
chr3171171342171171539E074-9146
chr3171171570171171828E074-8857
chr3171171912171172440E074-8245
chr3171173516171173631E074-7054
chr3171173685171173739E074-6946
chr3171173901171174013E074-6672
chr3171174080171174164E074-6521
chr3171174309171174492E074-6193
chr3171131227171131331E081-49354
chr3171159986171160247E081-20438
chr3171160487171160548E081-20137
chr3171160599171161336E081-19349
chr3171161363171161403E081-19282
chr3171170939171170983E081-9702
chr3171171042171171331E081-9354
chr3171171342171171539E081-9146
chr3171171570171171828E081-8857
chr3171171912171172440E081-8245
chr3171173516171173631E081-7054
chr3171173685171173739E081-6946
chr3171173901171174013E081-6672
chr3171174080171174164E081-6521
chr3171171042171171331E082-9354
chr3171171342171171539E082-9146
chr3171171570171171828E082-8857
chr3171171912171172440E082-8245










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3171175810171179639E067-1046
chr3171175810171179639E068-1046
chr3171175810171179639E069-1046
chr3171175810171179639E070-1046
chr3171175810171179639E071-1046
chr3171175810171179639E072-1046
chr3171175810171179639E073-1046
chr3171175810171179639E074-1046
chr3171175810171179639E081-1046
chr3171175810171179639E082-1046