rs10819563

Homo sapiens
A>G
PTGES : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0069 (2088/29906,GnomAD)
G=0070 (2039/29118,TOPMED)
G=0103 (518/5008,1000G)
G=0071 (272/3854,ALSPAC)
G=0079 (292/3708,TWINSUK)
chr9:129742923 (GRCh38.p7) (9q34.11)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.129742923A>G
GRCh37.p13 chr 9NC_000009.11:g.132505202A>G

Gene: PTGES, prostaglandin E synthase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PTGES transcriptNM_004878.4:c.N/AIntron Variant
PTGES transcript variant X1XM_011519210.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.964G=0.036
1000GenomesAmericanSub694A=0.900G=0.100
1000GenomesEast AsianSub1008A=0.806G=0.194
1000GenomesEuropeSub1006A=0.938G=0.062
1000GenomesGlobalStudy-wide5008A=0.897G=0.103
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.929G=0.071
The Genome Aggregation DatabaseAfricanSub8722A=0.958G=0.042
The Genome Aggregation DatabaseAmericanSub834A=0.880G=0.120
The Genome Aggregation DatabaseEast AsianSub1614A=0.821G=0.179
The Genome Aggregation DatabaseEuropeSub18434A=0.929G=0.071
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.930G=0.069
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.930G=0.070
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.921G=0.079
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs108195630.000342nicotine dependence17158188

eQTL of rs10819563 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 rs10819563 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 )
chr9132474008132475874E067-29328
chr9132488086132489417E067-15785
chr9132464704132465856E068-39346
chr9132465974132466616E068-38586
chr9132477400132477527E068-27675
chr9132499257132499325E068-5877
chr9132499397132499603E068-5599
chr9132499653132499703E068-5499
chr9132538822132540233E06833620
chr9132476717132477382E069-27820
chr9132477400132477527E069-27675
chr9132488086132489417E069-15785
chr9132499653132499703E069-5499
chr9132538822132540233E06933620
chr9132545974132546470E06940772
chr9132474008132475874E070-29328
chr9132477400132477527E070-27675
chr9132487692132488006E070-17196
chr9132488086132489417E070-15785
chr9132489487132489579E070-15623
chr9132489680132489756E070-15446
chr9132464704132465856E071-39346
chr9132474008132475874E071-29328
chr9132488086132489417E071-15785
chr9132474008132475874E072-29328
chr9132488086132489417E072-15785
chr9132499257132499325E072-5877
chr9132499397132499603E072-5599
chr9132499653132499703E072-5499
chr9132538822132540233E07233620
chr9132476717132477382E073-27820
chr9132488086132489417E073-15785
chr9132499397132499603E073-5599
chr9132499653132499703E073-5499
chr9132464704132465856E074-39346
chr9132474008132475874E074-29328
chr9132476717132477382E074-27820
chr9132477400132477527E074-27675
chr9132477984132478303E074-26899
chr9132478506132478638E074-26564
chr9132488086132489417E074-15785
chr9132538822132540233E07433620
chr9132474008132475874E081-29328









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9132458895132461084E067-44118