rs7111814

Homo sapiens
C>T
P2RY2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0447 (13394/29904,GnomAD)
T=0467 (13599/29118,TOPMED)
C==0448 (2245/5008,1000G)
C==0306 (1179/3854,ALSPAC)
C==0297 (1101/3708,TWINSUK)
chr11:73224780 (GRCh38.p7) (11q13.4)
AD
GWASdb2
2   publication(s)
See rs on genome
83 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.73224780C>T
GRCh37.p13 chr 11NC_000011.9:g.72935825C>T

Gene: P2RY2, purinergic receptor P2Y2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
P2RY2 transcript variant 2NM_002564.3:c.N/AIntron Variant
P2RY2 transcript variant 3NM_176071.2:c.N/AIntron Variant
P2RY2 transcript variant 1NM_176072.2:c.N/AIntron Variant
P2RY2 transcript variant X2XM_005274019.4:c.N/AIntron Variant
P2RY2 transcript variant X4XM_005274020.4:c.N/AIntron Variant
P2RY2 transcript variant X3XM_005274021.4:c.N/AIntron Variant
P2RY2 transcript variant X5XM_011545074.2:c.N/AIntron Variant
P2RY2 transcript variant X1XM_017017839.1:c.N/AIntron Variant
P2RY2 transcript variant X6XR_001747890.1:n.N/AIntron Variant
P2RY2 transcript variant X7XR_001747891.1:n.N/AIntron Variant
P2RY2 transcript variant X8XR_001747892.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.943T=0.057
1000GenomesAmericanSub694C=0.300T=0.700
1000GenomesEast AsianSub1008C=0.222T=0.778
1000GenomesEuropeSub1006C=0.290T=0.710
1000GenomesGlobalStudy-wide5008C=0.448T=0.552
1000GenomesSouth AsianSub978C=0.280T=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.306T=0.694
The Genome Aggregation DatabaseAfricanSub8712C=0.845T=0.155
The Genome Aggregation DatabaseAmericanSub836C=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1612C=0.243T=0.757
The Genome Aggregation DatabaseEuropeSub18442C=0.288T=0.711
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.447T=0.552
The Genome Aggregation DatabaseOtherSub302C=0.340T=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.533T=0.467
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.297T=0.703
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
27533928A pilot exome-wide association study of age-related cataract in Koreans.Eom SYJ Biomed Res

P-Value

SNP ID p-value Traits Study
rs71118147.27E-05alcohol dependence21314694

eQTL of rs7111814 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 rs7111814 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 )
chr117288821572889561E067-46264
chr117292796072928103E067-7722
chr117292812272928201E067-7624
chr117288658372886918E068-48907
chr117288693172887716E068-48109
chr117288772372888160E068-47665
chr117288821572889561E068-46264
chr117289607272896759E068-39066
chr117291127072911715E068-24110
chr117291172772911980E068-23845
chr117291230972912586E068-23239
chr117291260072912668E068-23157
chr117291271372913178E068-22647
chr117292443172924610E068-11215
chr117292475072924896E068-10929
chr117292494172925013E068-10812
chr117292508372925153E068-10672
chr117295196572952099E06816140
chr117295321372954219E06817388
chr117288821572889561E069-46264
chr117289607272896759E069-39066
chr117295112072951672E06915295
chr117295168372951898E06915858
chr117296931772969392E06933492
chr117288821572889561E070-46264
chr117295321372954219E07017388
chr117295559372955664E07019768
chr117295571972956301E07019894
chr117295632572956909E07020500
chr117295696172957130E07021136
chr117288821572889561E071-46264
chr117290439472904633E071-31192
chr117290464672904734E071-31091
chr117290483872905397E071-30428
chr117291172772911980E071-23845
chr117292443172924610E071-11215
chr117292475072924896E071-10929
chr117292494172925013E071-10812
chr117292508372925153E071-10672
chr117292538472926037E071-9788
chr117292812272928201E071-7624
chr117295168372951898E07115858
chr117295196572952099E07116140
chr117296931772969392E07133492
chr117296942172969530E07133596
chr117296961272969662E07133787
chr117288821572889561E072-46264
chr117289967272899949E072-35876
chr117291260072912668E072-23157
chr117291271372913178E072-22647
chr117292475072924896E072-10929
chr117292494172925013E072-10812
chr117292508372925153E072-10672
chr117292538472926037E072-9788
chr117292796072928103E072-7722
chr117292812272928201E072-7624
chr117296931772969392E07233492
chr117296942172969530E07233596
chr117288821572889561E073-46264
chr117295112072951672E07315295
chr117295168372951898E07315858
chr117298271372983652E07346888
chr117288772372888160E074-47665
chr117288821572889561E074-46264
chr117290439472904633E074-31192
chr117290464672904734E074-31091
chr117291260072912668E074-23157
chr117291271372913178E074-22647
chr117292422372924387E074-11438
chr117292443172924610E074-11215
chr117292475072924896E074-10929
chr117292494172925013E074-10812
chr117292508372925153E074-10672
chr117292796072928103E074-7722
chr117292812272928201E074-7624
chr117295321372954219E07417388
chr117296834572969315E07432520
chr117296931772969392E07433492
chr117296942172969530E07433596
chr117288821572889561E081-46264
chr117295321372954219E08117388
chr117298410972984669E08148284
chr117288821572889561E082-46264










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr117292820372930127E068-5698
chr117292820372930127E069-5698
chr117298391772983981E07148092
chr117292820372930127E073-5698