rs187954

Homo sapiens
C>A / C>G
LOC107984934 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0447 (13374/29870,GnomAD)
A=0462 (13454/29118,TOPMED)
C==0489 (2451/5008,1000G)
A=0454 (1749/3854,ALSPAC)
A=0454 (1683/3708,TWINSUK)
chr1:29661757 (GRCh38.p7) (1p35.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.29661757C>A
GRCh38.p7 chr 1NC_000001.11:g.29661757C>G
GRCh37.p13 chr 1NC_000001.10:g.30134604C>A
GRCh37.p13 chr 1NC_000001.10:g.30134604C>G

Gene: LOC107984934, uncharacterized LOC107984934(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984934 transcript variant X1XR_001737956.1:n.N/AIntron Variant
LOC107984934 transcript variant X2XR_001737957.1:n.N/AIntron Variant
LOC107984934 transcript variant X3XR_001737958.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.551A=0.449
1000GenomesAmericanSub694C=0.480A=0.520
1000GenomesEast AsianSub1008C=0.383A=0.617
1000GenomesEuropeSub1006C=0.566A=0.434
1000GenomesGlobalStudy-wide5008C=0.489A=0.511
1000GenomesSouth AsianSub978C=0.440A=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.546A=0.454
The Genome Aggregation DatabaseAfricanSub8690C=0.551A=0.449
The Genome Aggregation DatabaseAmericanSub836C=0.470A=0.53,
The Genome Aggregation DatabaseEast AsianSub1612C=0.370A=0.630
The Genome Aggregation DatabaseEuropeSub18430C=0.571A=0.428
The Genome Aggregation DatabaseGlobalStudy-wide29870C=0.552A=0.447
The Genome Aggregation DatabaseOtherSub302C=0.640A=0.36,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.537A=0.462
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.546A=0.454
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
rs1879548.65E-06alcohol and nictotine co-dependence20158304

eQTL of rs187954 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 rs187954 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 )
chr1155296008155296088E067-9016
chr1155348031155348195E06742927
chr1155348909155349103E06743805
chr1155349250155349910E06744146
chr1155280466155280524E069-24580
chr1155280591155280654E069-24450
chr1155295538155295939E069-9165
chr1155348031155348195E06942927
chr1155348909155349103E06943805
chr1155349250155349910E06944146
chr1155289427155289477E070-15627
chr1155289725155289775E070-15329
chr1155296358155296428E070-8676
chr1155283091155283479E071-21625
chr1155289810155290051E071-15053
chr1155348031155348195E07142927
chr1155348909155349103E07143805
chr1155349250155349910E07144146
chr1155348031155348195E07242927
chr1155348909155349103E07243805
chr1155349250155349910E07244146
chr1155283091155283479E073-21625
chr1155289725155289775E073-15329
chr1155295538155295939E073-9165
chr1155280466155280524E074-24580
chr1155280591155280654E074-24450
chr1155348909155349103E07443805
chr1155349250155349910E07444146
chr1155280466155280524E081-24580
chr1155280591155280654E081-24450
chr1155289810155290051E081-15053
chr1155295538155295939E081-9165
chr1155296008155296088E081-9016
chr1155296122155296232E081-8872
chr1155280466155280524E082-24580
chr1155280591155280654E082-24450
chr1155295538155295939E082-9165
chr1155296008155296088E082-9016
chr1155296122155296232E082-8872
chr1155296358155296428E082-8676









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1155264992155265218E067-39886
chr1155265300155265447E067-39657
chr1155265519155265691E067-39413
chr1155278116155279667E067-25437
chr1155291965155295537E067-9567
chr1155264992155265218E068-39886
chr1155278116155279667E068-25437
chr1155291965155295537E068-9567
chr1155264992155265218E069-39886
chr1155265300155265447E069-39657
chr1155265519155265691E069-39413
chr1155278116155279667E069-25437
chr1155291965155295537E069-9567
chr1155278116155279667E070-25437
chr1155291965155295537E070-9567
chr1155278116155279667E071-25437
chr1155291965155295537E071-9567
chr1155264992155265218E072-39886
chr1155265300155265447E072-39657
chr1155277771155278009E072-27095
chr1155278116155279667E072-25437
chr1155291965155295537E072-9567
chr1155277771155278009E073-27095
chr1155278116155279667E073-25437
chr1155291965155295537E073-9567
chr1155278116155279667E074-25437
chr1155291965155295537E074-9567
chr1155278116155279667E081-25437
chr1155278116155279667E082-25437
chr1155291965155295537E082-9567