rs6705087

Homo sapiens
T>C
LOC102723730 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0305 (9132/29916,GnomAD)
T==0295 (8597/29116,TOPMED)
T==0305 (1528/5008,1000G)
T==0347 (1339/3854,ALSPAC)
T==0344 (1275/3708,TWINSUK)
chr2:1546537 (GRCh38.p7) (2p25.3)
ND
GWASdb2
2   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.1546537T>C
GRCh37.p13 chr 2NC_000002.11:g.1550309T>C

Gene: LOC102723730, uncharacterized LOC102723730(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC102723730 transcriptXM_017005455.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.179C=0.821
1000GenomesAmericanSub694T=0.330C=0.670
1000GenomesEast AsianSub1008T=0.324C=0.676
1000GenomesEuropeSub1006T=0.353C=0.647
1000GenomesGlobalStudy-wide5008T=0.305C=0.695
1000GenomesSouth AsianSub978T=0.390C=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.347C=0.653
The Genome Aggregation DatabaseAfricanSub8702T=0.214C=0.786
The Genome Aggregation DatabaseAmericanSub838T=0.400C=0.600
The Genome Aggregation DatabaseEast AsianSub1616T=0.340C=0.660
The Genome Aggregation DatabaseEuropeSub18458T=0.341C=0.658
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.305C=0.694
The Genome Aggregation DatabaseOtherSub302T=0.300C=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.295C=0.704
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.344C=0.656
PMID Title Author Journal
22536871Convergence of genetic influences in comorbidity.McEachin RCBMC Bioinformatics
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
rs67050874.8E-06alcohol and nictotine co-dependence20158304

eQTL of rs6705087 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 rs6705087 in Fetal Brain

Probe ID Position Gene beta p-value
cg08025464chr2:1484593TPO0.04621311119463974.3857e-10

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 )
chr215497471550298E067-11
chr215495921549654E068-655
chr215497471550298E068-11
chr215495921549654E069-655
chr215497471550298E069-11
chr215544211554484E0714112
chr215545311555021E0714222
chr215495921549654E072-655
chr215497471550298E072-11
chr215482341548464E073-1845
chr215485341548711E073-1598
chr215495921549654E073-655
chr215497471550298E073-11
chr215973431598186E07347034
chr215495921549654E074-655
chr215497471550298E074-11
chr215566211556752E0746312
chr215569411557027E0746632
chr215495921549654E081-655
chr215497471550298E081-11
chr215544211554484E0814112
chr215834221584131E08133113
chr215950511596527E08144742
chr215973431598186E08147034
chr215983131598517E08148004
chr215446461544841E082-5468
chr215457011545954E082-4355
chr215460011546109E082-4200
chr215462261546276E082-4033
chr215462911546367E082-3942
chr215463901546516E082-3793
chr215544211554484E0824112
chr215545311555021E0824222
chr215834221584131E08233113