rs17112202

Homo sapiens
T>C
CUTC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0020 (623/29960,GnomAD)
C=0032 (953/29118,TOPMED)
C=0018 (90/5008,1000G)
C=0000 (1/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr10:99735234 (GRCh38.p7) (10q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.99735234T>C
GRCh37.p13 chr 10NC_000010.10:g.101494991T>C
COX15 RefSeqGene LRG_406

Gene: CUTC, cutC copper transporter(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CUTC transcriptNM_015960.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.936C=0.064
1000GenomesAmericanSub694T=0.990C=0.010
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.982C=0.018
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8720T=0.929C=0.071
The Genome Aggregation DatabaseAmericanSub836T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18480T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.979C=0.020
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.967C=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs171122020.0000874alcoholismpha002891
rs171122020.0000874alcohol dependence20201924

eQTL of rs17112202 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 rs17112202 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 )
chr10101493116101493166E067-1825
chr10101493225101493771E068-1220
chr10101493225101493771E069-1220
chr10101493116101493166E071-1825
chr10101493225101493771E071-1220
chr10101490296101490386E072-4605
chr10101490393101490441E072-4550
chr10101493225101493771E073-1220
chr10101493116101493166E074-1825







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10101490910101492850E067-2141
chr10101490910101492850E068-2141
chr10101490910101492850E069-2141
chr10101490910101492850E070-2141
chr10101490910101492850E071-2141
chr10101490910101492850E072-2141
chr10101490910101492850E073-2141
chr10101490910101492850E074-2141
chr10101490910101492850E081-2141
chr10101490910101492850E082-2141