rs4526378

Homo sapiens
G>T
CNBD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0413 (12347/29876,GnomAD)
T=0333 (9720/29118,TOPMED)
T=0433 (2168/5008,1000G)
G==0471 (1816/3854,ALSPAC)
G==0477 (1768/3708,TWINSUK)
chr8:86922204 (GRCh38.p7) (8q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.86922204G>T
GRCh37.p13 chr 8NC_000008.10:g.87934432G>T

Gene: CNBD1, cyclic nucleotide binding domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CNBD1 transcriptNM_173538.2:c.N/AIntron Variant
CNBD1 transcript variant X2XM_017013149.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.961T=0.039
1000GenomesAmericanSub694G=0.420T=0.580
1000GenomesEast AsianSub1008G=0.425T=0.575
1000GenomesEuropeSub1006G=0.465T=0.535
1000GenomesGlobalStudy-wide5008G=0.567T=0.433
1000GenomesSouth AsianSub978G=0.390T=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.471T=0.529
The Genome Aggregation DatabaseAfricanSub8710G=0.895T=0.105
The Genome Aggregation DatabaseAmericanSub836G=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1580G=0.453T=0.547
The Genome Aggregation DatabaseEuropeSub18450G=0.461T=0.538
The Genome Aggregation DatabaseGlobalStudy-wide29876G=0.586T=0.413
The Genome Aggregation DatabaseOtherSub300G=0.470T=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.666T=0.333
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.477T=0.523
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs45263780.000466alcohol dependence21314694

eQTL of rs4526378 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:87934432CPNE3ENSG00000085719.7G>T1.2849e-7407776Cerebellum

meQTL of rs4526378 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 )
chr88792527187926147E067-8285
chr88795740787957756E06922975
chr88792527187926147E071-8285
chr88792619687926276E071-8156
chr88795740787957756E07122975
chr88792527187926147E074-8285




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr88790099387901058E071-33374
chr88790099387901058E074-33374