rs2707653

Homo sapiens
C>T
LOC107985945 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0358 (10749/29948,GnomAD)
T=0278 (8101/29118,TOPMED)
T=0355 (1777/5008,1000G)
T=0410 (1580/3854,ALSPAC)
T=0414 (1535/3708,TWINSUK)
chr2:129805369 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129805369C>T
GRCh37.p13 chr 2NC_000002.11:g.130562942C>T

Gene: LOC107985945, uncharacterized LOC107985945(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985945 transcriptXR_001739711.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.979T=0.021
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.443T=0.557
1000GenomesEuropeSub1006C=0.548T=0.452
1000GenomesGlobalStudy-wide5008C=0.645T=0.355
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.590T=0.410
The Genome Aggregation DatabaseAfricanSub8728C=0.916T=0.084
The Genome Aggregation DatabaseAmericanSub836C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1612C=0.492T=0.508
The Genome Aggregation DatabaseEuropeSub18470C=0.527T=0.472
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.641T=0.358
The Genome Aggregation DatabaseOtherSub302C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.721T=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.586T=0.414
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs27076536.09E-05alcohol dependence21703634

eQTL of rs2707653 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 rs2707653 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 )
chr2130515443130516325E069-46617
chr2130514385130514525E070-48417
chr2130515443130516325E070-46617
chr2130551002130551500E070-11442
chr2130551711130551908E070-11034
chr2130552014130552074E070-10868
chr2130560809130560923E070-2019
chr2130564612130564708E0701670
chr2130564745130564827E0701803
chr2130584827130584924E07021885
chr2130586417130586702E07023475
chr2130523139130523179E073-39763
chr2130523295130523397E073-39545
chr2130515443130516325E081-46617
chr2130538574130538722E081-24220
chr2130539541130539591E081-23351
chr2130539699130539767E081-23175
chr2130549450130549573E081-13369
chr2130551002130551500E081-11442
chr2130551711130551908E081-11034
chr2130552014130552074E081-10868
chr2130577251130577386E08114309
chr2130578656130578729E08115714
chr2130579066130579412E08116124
chr2130579715130579843E08116773
chr2130579959130580074E08117017
chr2130515443130516325E082-46617
chr2130551002130551500E082-11442
chr2130551711130551908E082-11034
chr2130552014130552074E082-10868
chr2130564612130564708E0821670
chr2130564745130564827E0821803