rs17002824

Homo sapiens
G>A / G>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0209 (6261/29830,GnomAD)
C=0255 (7449/29118,TOPMED)
C=0241 (1205/5008,1000G)
C=0145 (559/3854,ALSPAC)
C=0140 (518/3708,TWINSUK)
chr4:77837872 (GRCh38.p7) (4q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.77837872G>A
GRCh38.p7 chr 4NC_000004.12:g.77837872G>C
GRCh37.p13 chr 4NC_000004.11:g.78759026G>A
GRCh37.p13 chr 4NC_000004.11:g.78759026G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.592C=0.408
1000GenomesAmericanSub694G=0.870C=0.130
1000GenomesEast AsianSub1008G=0.806C=0.194
1000GenomesEuropeSub1006G=0.871C=0.129
1000GenomesGlobalStudy-wide5008G=0.759C=0.241
1000GenomesSouth AsianSub978G=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.855C=0.145
The Genome Aggregation DatabaseAfricanSub8694G=0.626C=0.374
The Genome Aggregation DatabaseAmericanSub830G=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1616G=0.839C=0.161
The Genome Aggregation DatabaseEuropeSub18388G=0.859C=0.140
The Genome Aggregation DatabaseGlobalStudy-wide29830G=0.790C=0.209
The Genome Aggregation DatabaseOtherSub302G=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.744C=0.255
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.860C=0.140
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs170028240.000105alcohol consumption23743675

eQTL of rs17002824 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:78759026CNOT6LENSG00000138767.8G>C4.5600e-1518257Cerebellum
Chr4:78759026CNOT6LENSG00000138767.8G>C7.2038e-418257Frontal_Cortex_BA9
Chr4:78759026CNOT6LENSG00000138767.8G>C3.3539e-618257Cortex
Chr4:78759026CNOT6LENSG00000138767.8G>C8.9878e-818257Cerebellar_Hemisphere
Chr4:78759026CNOT6LENSG00000138767.8G>C3.2735e-518257Caudate_basal_ganglia
Chr4:78759026CNOT6LENSG00000138767.8G>C7.4447e-418257Brain_Spinal_cord_cervical
Chr4:78759026CNOT6LENSG00000138767.8G>C8.5293e-818257Putamen_basal_ganglia
Chr4:78759026CNOT6LENSG00000138767.8G>C5.2792e-518257Nucleus_accumbens_basal_ganglia

meQTL of rs17002824 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 )
chr4121844832121845020E069-7511
chr4121839851121839907E074-12624
chr4121839931121840013E074-12518
chr4121840067121840263E074-12268
chr4121840288121840421E074-12110
chr4121840426121840566E074-11965


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4121842658121844829E067-7702
chr4121842658121844829E068-7702
chr4121842658121844829E069-7702
chr4121842658121844829E070-7702
chr4121842658121844829E071-7702
chr4121842658121844829E072-7702
chr4121842658121844829E073-7702
chr4121842658121844829E074-7702
chr4121842658121844829E081-7702
chr4121842658121844829E082-7702