rs2506843

Homo sapiens
C>G
PERP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0492 (14730/29918,GnomAD)
G=0495 (14424/29118,TOPMED)
G=0374 (1871/5008,1000G)
C==0440 (1697/3854,ALSPAC)
C==0462 (1713/3708,TWINSUK)
chr6:138095943 (GRCh38.p7) (6q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.138095943C>G
GRCh37.p13 chr 6NC_000006.11:g.138417080C>G

Gene: PERP, PERP, TP53 apoptosis effector(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PERP transcriptNM_022121.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.456G=0.544
1000GenomesAmericanSub694C=0.640G=0.360
1000GenomesEast AsianSub1008C=0.916G=0.084
1000GenomesEuropeSub1006C=0.473G=0.527
1000GenomesGlobalStudy-wide5008C=0.626G=0.374
1000GenomesSouth AsianSub978C=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.440G=0.560
The Genome Aggregation DatabaseAfricanSub8710C=0.473G=0.527
The Genome Aggregation DatabaseAmericanSub838C=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1620C=0.944G=0.056
The Genome Aggregation DatabaseEuropeSub18448C=0.454G=0.545
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.492G=0.507
The Genome Aggregation DatabaseOtherSub302C=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.504G=0.495
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.462G=0.538
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
rs25068430.000306alcohol dependence21314694

eQTL of rs2506843 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 rs2506843 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 )
chr6138450428138450748E06833348
chr6138450930138450980E06833850
chr6138429838138429980E07112758
chr6138432548138432598E08115468
chr6138432830138432890E08115750
chr6138433580138433665E08116500
chr6138434170138434240E08117090
chr6138434292138434342E08117212
chr6138435577138435617E08118497
chr6138435626138435676E08118546
chr6138435678138435759E08118598
chr6138435943138436001E08118863
chr6138436096138436148E08119016
chr6138436440138437456E08119360
chr6138439223138439424E08122143
chr6138432830138432890E08215750
chr6138436440138437456E08219360




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6138425744138429806E0678664
chr6138425744138429806E0688664
chr6138425744138429806E0738664
chr6138425744138429806E0828664