rs1882331

Homo sapiens
T>C
ENPP6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0323 (9704/29964,GnomAD)
C=0352 (10265/29118,TOPMED)
C=0463 (2318/5008,1000G)
C=0252 (973/3854,ALSPAC)
C=0264 (979/3708,TWINSUK)
chr4:184202613 (GRCh38.p7) (4q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
73 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.184202613T>C
GRCh37.p13 chr 4NC_000004.11:g.185123766T>C

Gene: ENPP6, ectonucleotide pyrophosphatase/phosphodiesterase 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ENPP6 transcriptNM_153343.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.546C=0.454
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.220C=0.780
1000GenomesEuropeSub1006T=0.773C=0.227
1000GenomesGlobalStudy-wide5008T=0.537C=0.463
1000GenomesSouth AsianSub978T=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.748C=0.252
The Genome Aggregation DatabaseAfricanSub8712T=0.598C=0.402
The Genome Aggregation DatabaseAmericanSub838T=0.620C=0.380
The Genome Aggregation DatabaseEast AsianSub1620T=0.206C=0.794
The Genome Aggregation DatabaseEuropeSub18492T=0.755C=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.676C=0.323
The Genome Aggregation DatabaseOtherSub302T=0.760C=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.647C=0.352
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.736C=0.264
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs18823311.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1882331 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 rs1882331 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 )
chr4185075087185075154E067-48612
chr4185076687185076735E067-47031
chr4185076799185076897E067-46869
chr4185077325185077721E067-46045
chr4185118948185119204E067-4562
chr4185119218185119332E067-4434
chr4185119364185119431E067-4335
chr4185136918185137151E06713152
chr4185110538185110876E068-12890
chr4185110895185110955E068-12811
chr4185111819185112101E068-11665
chr4185158717185158856E06834951
chr4185158912185159029E06835146
chr4185076687185076735E069-47031
chr4185076799185076897E069-46869
chr4185077325185077721E069-46045
chr4185111819185112101E069-11665
chr4185118948185119204E069-4562
chr4185119218185119332E069-4434
chr4185119364185119431E069-4335
chr4185136620185136745E06912854
chr4185158717185158856E06934951
chr4185158912185159029E06935146
chr4185136139185136551E07012373
chr4185136620185136745E07012854
chr4185136918185137151E07013152
chr4185076687185076735E071-47031
chr4185076799185076897E071-46869
chr4185088708185089365E071-34401
chr4185110538185110876E071-12890
chr4185110895185110955E071-12811
chr4185111138185111481E071-12285
chr4185111819185112101E071-11665
chr4185118948185119204E071-4562
chr4185119218185119332E071-4434
chr4185119364185119431E071-4335
chr4185136620185136745E07112854
chr4185158717185158856E07134951
chr4185158912185159029E07135146
chr4185076687185076735E072-47031
chr4185076799185076897E072-46869
chr4185077325185077721E072-46045
chr4185111819185112101E072-11665
chr4185119218185119332E072-4434
chr4185119364185119431E072-4335
chr4185136620185136745E07212854
chr4185076687185076735E073-47031
chr4185076799185076897E073-46869
chr4185077325185077721E073-46045
chr4185110895185110955E073-12811
chr4185111138185111481E073-12285
chr4185111819185112101E073-11665
chr4185077325185077721E074-46045
chr4185090232185090448E074-33318
chr4185110053185110113E074-13653
chr4185110538185110876E074-12890
chr4185110895185110955E074-12811
chr4185111138185111481E074-12285
chr4185111819185112101E074-11665
chr4185118734185118824E074-4942
chr4185118948185119204E074-4562
chr4185119218185119332E074-4434
chr4185119364185119431E074-4335
chr4185136139185136551E07412373
chr4185136620185136745E07412854
chr4185139463185139533E07415697
chr4185158717185158856E07434951
chr4185158912185159029E07435146
chr4185074720185074812E081-48954
chr4185075087185075154E081-48612
chr4185075197185075327E081-48439
chr4185075087185075154E082-48612
chr4185075197185075327E082-48439










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4185137165185137496E06713399
chr4185137729185138007E06713963
chr4185138351185138495E06714585
chr4185138797185138935E06715031
chr4185139007185139161E06715241
chr4185114636185114712E068-9054
chr4185137165185137496E06813399
chr4185137729185138007E06813963
chr4185138351185138495E06814585
chr4185138797185138935E06815031
chr4185139007185139161E06815241
chr4185137165185137496E06913399
chr4185137729185138007E06913963
chr4185138351185138495E06914585
chr4185138797185138935E06915031
chr4185139007185139161E06915241
chr4185137165185137496E07113399
chr4185137729185138007E07113963
chr4185138351185138495E07114585
chr4185138797185138935E07115031
chr4185139007185139161E07115241
chr4185137165185137496E07213399
chr4185137729185138007E07213963
chr4185138351185138495E07214585
chr4185138797185138935E07215031
chr4185137165185137496E07313399
chr4185137729185138007E07313963
chr4185138351185138495E07314585
chr4185138797185138935E07315031
chr4185137165185137496E07413399
chr4185137729185138007E07413963
chr4185138351185138495E07414585
chr4185138797185138935E07415031
chr4185139007185139161E07415241