rs2102116

Homo sapiens
C>T
CNOT6L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0209 (6276/29940,GnomAD)
C==0256 (7469/29118,TOPMED)
C==0239 (1198/5008,1000G)
C==0147 (568/3854,ALSPAC)
C==0142 (526/3708,TWINSUK)
chr4:77751014 (GRCh38.p7) (4q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.77751014C>T
GRCh37.p13 chr 4NC_000004.11:g.78672168C>T

Gene: CNOT6L, CCR4-NOT transcription complex subunit 6 like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CNOT6L transcript variant 1NM_001286790.1:c.N/AIntron Variant
CNOT6L transcript variant 2NM_144571.2:c.N/AIntron Variant
CNOT6L transcript variant X1XM_011531806.2:c.N/AIntron Variant
CNOT6L transcript variant X2XM_011531807.2:c.N/AIntron Variant
CNOT6L transcript variant X3XM_011531808.2:c.N/AIntron Variant
CNOT6L transcript variant X4XM_011531809.1:c.N/AIntron Variant
CNOT6L transcript variant X5XM_011531810.1:c.N/AIntron Variant
CNOT6L transcript variant X6XM_017007956.1:c.N/AIntron Variant
CNOT6L transcript variant X7XM_017007957.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.411T=0.589
1000GenomesAmericanSub694C=0.130T=0.870
1000GenomesEast AsianSub1008C=0.184T=0.816
1000GenomesEuropeSub1006C=0.129T=0.871
1000GenomesGlobalStudy-wide5008C=0.239T=0.761
1000GenomesSouth AsianSub978C=0.260T=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.147T=0.853
The Genome Aggregation DatabaseAfricanSub8698C=0.374T=0.626
The Genome Aggregation DatabaseAmericanSub838C=0.140T=0.860
The Genome Aggregation DatabaseEast AsianSub1618C=0.163T=0.837
The Genome Aggregation DatabaseEuropeSub18484C=0.141T=0.859
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.209T=0.790
The Genome Aggregation DatabaseOtherSub302C=0.140T=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.256T=0.743
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.142T=0.858
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
rs21021160.000109alcohol consumption23743675

eQTL of rs2102116 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:78672168CNOT6LENSG00000138767.8C>T4.5600e-15-68601Cerebellum
Chr4:78672168CNOT6LENSG00000138767.8C>T7.2038e-4-68601Frontal_Cortex_BA9
Chr4:78672168CNOT6LENSG00000138767.8C>T3.3539e-6-68601Cortex
Chr4:78672168CNOT6LENSG00000138767.8C>T8.9878e-8-68601Cerebellar_Hemisphere
Chr4:78672168CNOT6LENSG00000138767.8C>T3.2735e-5-68601Caudate_basal_ganglia
Chr4:78672168CNOT6LENSG00000138767.8C>T7.4447e-4-68601Brain_Spinal_cord_cervical
Chr4:78672168CNOT6LENSG00000138767.8C>T8.5293e-8-68601Putamen_basal_ganglia
Chr4:78672168CNOT6LENSG00000138767.8C>T5.2792e-5-68601Nucleus_accumbens_basal_ganglia

meQTL of rs2102116 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 )
chr47869771678698154E06725548
chr47869818778698228E06726019
chr47869832378698543E06726155
chr47869854478698655E06726376
chr47869870078698795E06726532
chr47870295378703053E06730785
chr47870336278703527E06731194
chr47869818778698228E06826019
chr47869832378698543E06826155
chr47869854478698655E06826376
chr47869870078698795E06826532
chr47869870078698795E06926532
chr47870444878704571E06932280
chr47869259578692757E07020427
chr47869771678698154E07025548
chr47869870078698795E07026532
chr47870295378703053E07030785
chr47870336278703527E07031194
chr47870444878704571E07032280
chr47869771678698154E07125548
chr47869818778698228E07126019
chr47869832378698543E07126155
chr47869854478698655E07126376
chr47869870078698795E07126532
chr47870295378703053E07130785
chr47870336278703527E07131194
chr47871118878711723E07139020
chr47869818778698228E07226019
chr47869832378698543E07226155
chr47869854478698655E07226376
chr47869870078698795E07226532
chr47870295378703053E07230785
chr47870336278703527E07231194
chr47871851978718632E07246351
chr47869832378698543E07326155
chr47869854478698655E07326376
chr47869870078698795E07326532
chr47870295378703053E07330785
chr47872052378720573E07348355
chr47869440178694560E07422233
chr47869771678698154E07425548
chr47869818778698228E07426019
chr47869832378698543E07426155
chr47869854478698655E07426376
chr47869870078698795E07426532
chr47872174478721795E07449576
chr47871118878711723E08139020
chr47869771678698154E08225548
chr47869818778698228E08226019
chr47869832378698543E08226155
chr47869854478698655E08226376