rs2280390

Homo sapiens
T>G
DNAJB11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0497 (14889/29928,GnomAD)
G=0437 (12728/29118,TOPMED)
T==0491 (2458/5008,1000G)
T==0332 (1280/3854,ALSPAC)
T==0344 (1276/3708,TWINSUK)
chr3:186576031 (GRCh38.p7) (3q27.3)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.186576031T>G
GRCh37.p13 chr 3NC_000003.11:g.186293820T>G
DNAJB11 RefSeqGeneNG_034024.1:g.10356T>G

Gene: DNAJB11, DnaJ heat shock protein family (Hsp40) member B11(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAJB11 transcriptNM_016306.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.969G=0.031
1000GenomesAmericanSub694T=0.370G=0.630
1000GenomesEast AsianSub1008T=0.212G=0.788
1000GenomesEuropeSub1006T=0.346G=0.654
1000GenomesGlobalStudy-wide5008T=0.491G=0.509
1000GenomesSouth AsianSub978T=0.370G=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.332G=0.668
The Genome Aggregation DatabaseAfricanSub8712T=0.876G=0.124
The Genome Aggregation DatabaseAmericanSub836T=0.360G=0.640
The Genome Aggregation DatabaseEast AsianSub1614T=0.209G=0.791
The Genome Aggregation DatabaseEuropeSub18464T=0.360G=0.639
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.502G=0.497
The Genome Aggregation DatabaseOtherSub302T=0.340G=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.562G=0.437
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.344G=0.656
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
rs22803900.000533alcohol dependence21314694

eQTL of rs2280390 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 rs2280390 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 )
chr3186250353186250481E067-43339
chr3186258038186259015E067-34805
chr3186332272186333101E06738452
chr3186258038186259015E068-34805
chr3186332272186333101E06838452
chr3186255125186255389E069-38431
chr3186258038186259015E069-34805
chr3186280469186280785E069-13035
chr3186280186186280240E070-13580
chr3186280303186280362E070-13458
chr3186280469186280785E070-13035
chr3186286229186286272E070-7548
chr3186258038186259015E071-34805
chr3186332272186333101E07138452
chr3186258038186259015E072-34805
chr3186332272186333101E07238452
chr3186246627186247446E073-46374
chr3186247510186247618E073-46202
chr3186258038186259015E074-34805
chr3186270890186271086E074-22734
chr3186286229186286272E074-7548
chr3186332272186333101E07438452
chr3186280186186280240E081-13580
chr3186280303186280362E081-13458
chr3186280469186280785E081-13035
chr3186282222186282328E081-11492
chr3186282377186282711E081-11109
chr3186293132186293265E081-555
chr3186332272186333101E08138452
chr3186280469186280785E082-13035
chr3186282222186282328E082-11492
chr3186282377186282711E082-11109










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3186284162186285783E067-8037
chr3186287511186289128E067-4692
chr3186289268186289437E067-4383
chr3186284162186285783E068-8037
chr3186287511186289128E068-4692
chr3186289268186289437E068-4383
chr3186284162186285783E069-8037
chr3186287511186289128E069-4692
chr3186289268186289437E069-4383
chr3186284162186285783E070-8037
chr3186287511186289128E070-4692
chr3186289268186289437E070-4383
chr3186284162186285783E071-8037
chr3186287511186289128E071-4692
chr3186289268186289437E071-4383
chr3186284162186285783E072-8037
chr3186287511186289128E072-4692
chr3186289268186289437E072-4383
chr3186284162186285783E073-8037
chr3186287511186289128E073-4692
chr3186289268186289437E073-4383
chr3186284162186285783E074-8037
chr3186287511186289128E074-4692
chr3186289268186289437E074-4383
chr3186284162186285783E081-8037
chr3186287511186289128E081-4692
chr3186289268186289437E081-4383
chr3186284162186285783E082-8037
chr3186287511186289128E082-4692
chr3186289268186289437E082-4383