rs3740169

Homo sapiens
G>A / G>T
CUBN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0281 (8414/29946,GnomAD)
A=0335 (9754/29118,TOPMED)
A=0326 (1633/5008,1000G)
A=0201 (776/3854,ALSPAC)
A=0215 (799/3708,TWINSUK)
chr10:16831548 (GRCh38.p7) (10p13)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.16831548G>A
GRCh38.p7 chr 10NC_000010.11:g.16831548G>T
GRCh37.p13 chr 10NC_000010.10:g.16873547G>A
GRCh37.p13 chr 10NC_000010.10:g.16873547G>T
CUBN RefSeqGene LRG_540
CUBN RefSeqGene LRG_540

Gene: CUBN, cubilin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CUBN transcriptNM_001081.3:c.N/AIntron Variant
CUBN transcript variant X2XM_011519709.2:c.N/AIntron Variant
CUBN transcript variant X3XM_011519710.2:c.N/AIntron Variant
CUBN transcript variant X4XM_011519711.2:c.N/AIntron Variant
CUBN transcript variant X1XM_011519708.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.500A=0.500
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.628A=0.372
1000GenomesEuropeSub1006G=0.805A=0.195
1000GenomesGlobalStudy-wide5008G=0.674A=0.326
1000GenomesSouth AsianSub978G=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.799A=0.201
The Genome Aggregation DatabaseAfricanSub8702G=0.549A=0.451
The Genome Aggregation DatabaseAmericanSub838G=0.770A=0.23,
The Genome Aggregation DatabaseEast AsianSub1612G=0.639A=0.361
The Genome Aggregation DatabaseEuropeSub18492G=0.803A=0.197
The Genome Aggregation DatabaseGlobalStudy-wide29946G=0.719A=0.281
The Genome Aggregation DatabaseOtherSub302G=0.760A=0.24,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.665A=0.335
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.785A=0.215
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
rs37401690.000513alcohol dependence21314694

eQTL of rs3740169 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 rs3740169 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 )
chr102358178423581895E0672044
chr102358178423581895E0682044
chr102357032023570596E070-9144
chr102358178423581895E0712044
chr102358263323582697E0712893
chr102358276023582830E0713020
chr102358263323582697E0722893
chr102358276023582830E0723020
chr102358062623580888E073886
chr102358017223580264E074432
chr102358062623580888E074886
chr102358062623580888E081886
chr102358263323582697E0812893
chr102358263323582697E0822893
chr102358276023582830E0823020
chr102358283823582899E0823098
chr102358304323583227E0823303









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102358047723580624E067737
chr102358047723580624E069737
chr102358047723580624E071737
chr102358047723580624E072737