rs1886712

Homo sapiens
C>G
GPR139 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0014 (445/29984,GnomAD)
G=0024 (702/29118,TOPMED)
G=0022 (111/5008,1000G)
G=0001 (4/3854,ALSPAC)
G=0001 (4/3708,TWINSUK)
chr16:20072371 (GRCh38.p7) (16p12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.20072371C>G
GRCh37.p13 chr 16NC_000016.9:g.20083693C>G

Gene: GPR139, G protein-coupled receptor 139(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GPR139 transcript variant 1NM_001002911.3:c.N/AIntron Variant
GPR139 transcript variant 2NM_001318483.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.922G=0.078
1000GenomesAmericanSub694C=0.990G=0.010
1000GenomesEast AsianSub1008C=1.000G=0.000
1000GenomesEuropeSub1006C=0.996G=0.004
1000GenomesGlobalStudy-wide5008C=0.978G=0.022
1000GenomesSouth AsianSub978C=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999G=0.001
The Genome Aggregation DatabaseAfricanSub8726C=0.952G=0.048
The Genome Aggregation DatabaseAmericanSub838C=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622C=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18496C=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29984C=0.985G=0.014
The Genome Aggregation DatabaseOtherSub302C=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.975G=0.024
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999G=0.001
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
rs18867120.000561alcohol dependence21314694

eQTL of rs1886712 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 rs1886712 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 )
chr162006126220061444E068-22249
chr162006150620061666E068-22027
chr162003708820037177E070-46516
chr162003743320038135E070-45558
chr162003817820038292E070-45401
chr162003838920038439E070-45254
chr162003845720038497E070-45196
chr162013154720131654E07047854
chr162013184120132013E07048148
chr162013207720132127E07048384
chr162013339020133677E07049697
chr162005698820057074E081-26619
chr162005711820057168E081-26525
chr162006446220064518E081-19175
chr162006453020064614E081-19079
chr162006469220065010E081-18683
chr162006523820065288E081-18405
chr162006612620066176E081-17517
chr162007644020076529E081-7164
chr162008353620083849E0810
chr162008624420086349E0812551
chr162008644720086511E0812754
chr162013154720131654E08147854
chr162013184120132013E08148148
chr162013207720132127E08148384
chr162004106120041228E082-42465
chr162004138320041443E082-42250
chr162004176920041819E082-41874
chr162005698820057074E082-26619
chr162005711820057168E082-26525
chr162005728820057656E082-26037
chr162006453020064614E082-19079
chr162006469220065010E082-18683
chr162013154720131654E08247854
chr162013184120132013E08248148
chr162013207720132127E08248384
chr162013229920132360E08248606
chr162013245420132494E08248761
chr162013252020132615E08248827
chr162013339020133677E08249697




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr162008389720084508E068204
chr162008457820084676E068885
chr162008470720084849E0681014
chr162008490020085812E0681207
chr162008583620086145E0682143
chr162008490020085812E0701207
chr162008583620086145E0702143
chr162008490020085812E0711207
chr162008490020085812E0721207
chr162008470720084849E0731014
chr162008490020085812E0731207
chr162008490020085812E0821207
chr162008583620086145E0822143