rs2866688

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0209 (6272/29952,GnomAD)
G==0256 (7453/29118,TOPMED)
G==0240 (1202/5008,1000G)
G==0146 (562/3854,ALSPAC)
G==0141 (521/3708,TWINSUK)
chr4:77827888 (GRCh38.p7) (4q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
41 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.77827888G>A
GRCh37.p13 chr 4NC_000004.11:g.78749042G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.407A=0.593
1000GenomesAmericanSub694G=0.130A=0.870
1000GenomesEast AsianSub1008G=0.194A=0.806
1000GenomesEuropeSub1006G=0.129A=0.871
1000GenomesGlobalStudy-wide5008G=0.240A=0.760
1000GenomesSouth AsianSub978G=0.260A=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.146A=0.854
The Genome Aggregation DatabaseAfricanSub8708G=0.374A=0.626
The Genome Aggregation DatabaseAmericanSub836G=0.140A=0.860
The Genome Aggregation DatabaseEast AsianSub1618G=0.162A=0.838
The Genome Aggregation DatabaseEuropeSub18488G=0.140A=0.859
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.209A=0.790
The Genome Aggregation DatabaseOtherSub302G=0.140A=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.256A=0.744
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.141A=0.859
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
rs28666889.99E-05alcohol consumption23743675

eQTL of rs2866688 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:78749042CNOT6LENSG00000138767.8G>A4.5600e-158273Cerebellum
Chr4:78749042CNOT6LENSG00000138767.8G>A7.2038e-48273Frontal_Cortex_BA9
Chr4:78749042CNOT6LENSG00000138767.8G>A3.3539e-68273Cortex
Chr4:78749042CNOT6LENSG00000138767.8G>A8.9878e-88273Cerebellar_Hemisphere
Chr4:78749042CNOT6LENSG00000138767.8G>A3.2735e-58273Caudate_basal_ganglia
Chr4:78749042CNOT6LENSG00000138767.8G>A7.4447e-48273Brain_Spinal_cord_cervical
Chr4:78749042CNOT6LENSG00000138767.8G>A8.5293e-88273Putamen_basal_ganglia
Chr4:78749042CNOT6LENSG00000138767.8G>A5.2792e-58273Nucleus_accumbens_basal_ganglia

meQTL of rs2866688 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 )
chr47870295378703053E067-45989
chr47870336278703527E067-45515
chr47872203578722202E067-26840
chr47872225678722380E067-26662
chr47872240478722470E067-26572
chr47872248378722656E067-26386
chr47873662578736683E067-12359
chr47873687978737073E067-11969
chr47874280178743329E067-5713
chr47874334778743599E067-5443
chr47872203578722202E068-26840
chr47872225678722380E068-26662
chr47872240478722470E068-26572
chr47872248378722656E068-26386
chr47873662578736683E068-12359
chr47873687978737073E068-11969
chr47873805378738138E068-10904
chr47874280178743329E068-5713
chr47870444878704571E069-44471
chr47872203578722202E069-26840
chr47872225678722380E069-26662
chr47872240478722470E069-26572
chr47872248378722656E069-26386
chr47873662578736683E069-12359
chr47873687978737073E069-11969
chr47874280178743329E069-5713
chr47874334778743599E069-5443
chr47870295378703053E070-45989
chr47870336278703527E070-45515
chr47870444878704571E070-44471
chr47873662578736683E070-12359
chr47878216078782214E07033118
chr47878243278782632E07033390
chr47870295378703053E071-45989
chr47870336278703527E071-45515
chr47871118878711723E071-37319
chr47872203578722202E071-26840
chr47872225678722380E071-26662
chr47872240478722470E071-26572
chr47872248378722656E071-26386
chr47873662578736683E071-12359
chr47873687978737073E071-11969
chr47874280178743329E071-5713
chr47878243278782632E07133390
chr47870295378703053E072-45989
chr47870336278703527E072-45515
chr47871851978718632E072-30410
chr47874280178743329E072-5713
chr47870295378703053E073-45989
chr47872052378720573E073-28469
chr47873687978737073E073-11969
chr47874280178743329E073-5713
chr47874334778743599E073-5443
chr47879848578798550E07349443
chr47872174478721795E074-27247
chr47872203578722202E074-26840
chr47872225678722380E074-26662
chr47872240478722470E074-26572
chr47872248378722656E074-26386
chr47872415078724243E074-24799
chr47874280178743329E074-5713
chr47878243278782632E07433390
chr47871118878711723E081-37319
chr47878243278782632E08133390
chr47873662578736683E082-12359
chr47873687978737073E082-11969
chr47878243278782632E08233390
chr47878525978785299E08236217










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47873862378740807E067-8235
chr47874081078742783E067-6259
chr47878267178784705E06733629
chr47878480978784882E06735767
chr47878491878785151E06735876
chr47873862378740807E068-8235
chr47874081078742783E068-6259
chr47878267178784705E06833629
chr47878480978784882E06835767
chr47878491878785151E06835876
chr47873862378740807E069-8235
chr47874081078742783E069-6259
chr47878267178784705E06933629
chr47878480978784882E06935767
chr47878491878785151E06935876
chr47873862378740807E070-8235
chr47874081078742783E070-6259
chr47878267178784705E07033629
chr47878480978784882E07035767
chr47878491878785151E07035876
chr47873862378740807E071-8235
chr47874081078742783E071-6259
chr47878267178784705E07133629
chr47878480978784882E07135767
chr47878491878785151E07135876
chr47873862378740807E072-8235
chr47874081078742783E072-6259
chr47878267178784705E07233629
chr47873862378740807E073-8235
chr47874081078742783E073-6259
chr47878267178784705E07333629
chr47873862378740807E074-8235
chr47874081078742783E074-6259
chr47878267178784705E07433629
chr47873862378740807E081-8235
chr47878267178784705E08133629
chr47873862378740807E082-8235
chr47874081078742783E082-6259
chr47878267178784705E08233629
chr47878480978784882E08235767
chr47878491878785151E08235876