rs2484066

Homo sapiens
T>G
PERP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0489 (14652/29910,GnomAD)
T==0496 (14451/29118,TOPMED)
G=0370 (1855/5008,1000G)
T==0430 (1656/3854,ALSPAC)
T==0446 (1653/3708,TWINSUK)
chr6:138095981 (GRCh38.p7) (6q23.3)
AD
GWASdb2
2   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.138095981T>G
GRCh37.p13 chr 6NC_000006.11:g.138417118T>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
1000GenomesAfricanSub1322T=0.455G=0.545
1000GenomesAmericanSub694T=0.650G=0.350
1000GenomesEast AsianSub1008T=0.916G=0.084
1000GenomesEuropeSub1006T=0.479G=0.521
1000GenomesGlobalStudy-wide5008T=0.630G=0.370
1000GenomesSouth AsianSub978T=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.430G=0.570
The Genome Aggregation DatabaseAfricanSub8704T=0.471G=0.529
The Genome Aggregation DatabaseAmericanSub838T=0.690G=0.310
The Genome Aggregation DatabaseEast AsianSub1620T=0.946G=0.054
The Genome Aggregation DatabaseEuropeSub18446T=0.450G=0.549
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.489G=0.510
The Genome Aggregation DatabaseOtherSub302T=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.496G=0.503
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.446G=0.554
PMID Title Author Journal
19165919Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.Musone SLNat Genet
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs24840661.5E-05alcohol dependence24277619

eQTL of rs2484066 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 rs2484066 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 )
chr6138450428138450748E06833310
chr6138450930138450980E06833812
chr6138429838138429980E07112720
chr6138432548138432598E08115430
chr6138432830138432890E08115712
chr6138433580138433665E08116462
chr6138434170138434240E08117052
chr6138434292138434342E08117174
chr6138435577138435617E08118459
chr6138435626138435676E08118508
chr6138435678138435759E08118560
chr6138435943138436001E08118825
chr6138436096138436148E08118978
chr6138436440138437456E08119322
chr6138439223138439424E08122105
chr6138432830138432890E08215712
chr6138436440138437456E08219322




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6138425744138429806E0678626
chr6138425744138429806E0688626
chr6138425744138429806E0738626
chr6138425744138429806E0828626