rs237899

Homo sapiens
G>A / G>C
OXTR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0330 (9861/29862,GnomAD)
A=0367 (10708/29118,TOPMED)
A=0304 (1522/5008,1000G)
A=0375 (1447/3854,ALSPAC)
A=0364 (1350/3708,TWINSUK)
chr3:8766829 (GRCh38.p7) (3p25.3)
AD
GWASCatalog | GWASdb2
5   publication(s)
See rs on genome
71 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.8766829G>A
GRCh38.p7 chr 3NC_000003.12:g.8766829G>C
GRCh37.p13 chr 3NC_000003.11:g.8808515G>A
GRCh37.p13 chr 3NC_000003.11:g.8808515G>C
CAV3 RefSeqGene LRG_329
CAV3 RefSeqGene LRG_329

Gene: OXTR, oxytocin receptor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OXTR transcript variant 1NM_000916.3:c.N/AIntron Variant
OXTR transcript variant X1XM_011533762.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.662A=0.338
1000GenomesAmericanSub694G=0.690A=0.310
1000GenomesEast AsianSub1008G=0.861A=0.139
1000GenomesEuropeSub1006G=0.627A=0.373
1000GenomesGlobalStudy-wide5008G=0.696A=0.304
1000GenomesSouth AsianSub978G=0.650A=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.625A=0.375
The Genome Aggregation DatabaseAfricanSub8684G=0.642A=0.358
The Genome Aggregation DatabaseAmericanSub836G=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1618G=0.906A=0.094
The Genome Aggregation DatabaseEuropeSub18422G=0.661A=0.338
The Genome Aggregation DatabaseGlobalStudy-wide29862G=0.669A=0.330
The Genome Aggregation DatabaseOtherSub302G=0.540A=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.632A=0.367
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.636A=0.364
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20196918Schizophrenia severity and clozapine treatment outcome association with oxytocinergic genes.Souza RPInt J Neuropsychopharmacol
22064162Genome-wide association study of comorbid depressive syndrome and alcohol dependence.Edwards ACPsychiatr Genet
24916666Association between the oxytocin receptor (OXTR) gene and children's social cognition at 18 months.Wade MGenes Brain Behav
23284802Association between oxytocin receptor gene polymorphisms and self-rated 'empathic concern' in schizophrenia.Montag CPLoS One

P-Value

SNP ID p-value Traits Study
rs2378992.00E-06alcohol dependence22064162
rs2378990.00022alcohol dependence20201924

eQTL of rs237899 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 rs237899 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 )
chr33072646330726640E067-49630
chr33072675130727131E067-49139
chr33073146230731560E067-44710
chr33073358930733648E067-42622
chr33073379230733836E067-42434
chr33072646330726640E068-49630
chr33073039830731159E068-45111
chr33073289930733062E068-43208
chr33073310230733264E068-43006
chr33073358930733648E068-42622
chr33073379230733836E068-42434
chr33073408830734337E068-41933
chr33073475930734858E068-41412
chr33073838530738451E068-37819
chr33073850730738629E068-37641
chr33081190230812226E06835632
chr33072646330726640E069-49630
chr33072675130727131E069-49139
chr33073010130730192E069-46078
chr33073029030730372E069-45898
chr33073039830731159E069-45111
chr33073289930733062E069-43208
chr33073358930733648E069-42622
chr33073379230733836E069-42434
chr33073408830734337E069-41933
chr33073475930734858E069-41412
chr33073496230735376E069-40894
chr33073039830731159E070-45111
chr33073790630738265E070-38005
chr33073838530738451E070-37819
chr33073850730738629E070-37641
chr33072646330726640E071-49630
chr33072990030729950E071-46320
chr33073010130730192E071-46078
chr33073029030730372E071-45898
chr33073039830731159E071-45111
chr33073146230731560E071-44710
chr33073289930733062E071-43208
chr33073310230733264E071-43006
chr33073358930733648E071-42622
chr33073379230733836E071-42434
chr33073408830734337E071-41933
chr33073475930734858E071-41412
chr33073039830731159E072-45111
chr33072646330726640E073-49630
chr33072675130727131E073-49139
chr33073039830731159E073-45111
chr33073289930733062E073-43208
chr33073310230733264E073-43006
chr33073358930733648E073-42622
chr33073379230733836E073-42434
chr33072646330726640E074-49630
chr33072675130727131E074-49139
chr33073010130730192E074-46078
chr33073029030730372E074-45898
chr33073039830731159E074-45111
chr33073146230731560E074-44710
chr33073289930733062E074-43208
chr33073310230733264E074-43006
chr33073358930733648E074-42622
chr33073379230733836E074-42434
chr33073408830734337E074-41933
chr33073475930734858E074-41412
chr33073496230735376E074-40894
chr33081190230812226E07435632
chr33073039830731159E081-45111
chr33077118630771292E081-4978
chr33077250830772579E081-3691
chr33077427530774347E081-1923
chr33077442130774519E081-1751
chr33077474630775058E081-1212