rs906453

Homo sapiens
C>T
PELP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0366 (10952/29900,GnomAD)
C==0444 (12937/29118,TOPMED)
C==0338 (1695/5008,1000G)
C==0289 (1114/3854,ALSPAC)
C==0304 (1128/3708,TWINSUK)
chr17:4691670 (GRCh38.p7) (17p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4691670C>T
GRCh37.p13 chr 17NC_000017.10:g.4594965C>T

Gene: PELP1, proline, glutamate and leucine rich protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PELP1 transcript variant 2NM_001278241.1:c.N/AIntron Variant
PELP1 transcript variant 1NM_014389.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.637T=0.363
1000GenomesAmericanSub694C=0.280T=0.720
1000GenomesEast AsianSub1008C=0.170T=0.830
1000GenomesEuropeSub1006C=0.305T=0.695
1000GenomesGlobalStudy-wide5008C=0.338T=0.662
1000GenomesSouth AsianSub978C=0.180T=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.289T=0.711
The Genome Aggregation DatabaseAfricanSub8698C=0.586T=0.414
The Genome Aggregation DatabaseAmericanSub838C=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1612C=0.199T=0.801
The Genome Aggregation DatabaseEuropeSub18450C=0.283T=0.716
The Genome Aggregation DatabaseGlobalStudy-wide29900C=0.366T=0.633
The Genome Aggregation DatabaseOtherSub302C=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.444T=0.555
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.304T=0.696
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs9064530.0000201alcoholismpha002891
rs9064530.0000201alcohol dependence20201924

eQTL of rs906453 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4594965ALOX15ENSG00000161905.8C>T3.7844e-949376Cerebellum
Chr17:4594965ALOX15ENSG00000161905.8C>T9.8439e-749376Hypothalamus
Chr17:4594965ALOX15ENSG00000161905.8C>T7.5914e-1049376Cortex
Chr17:4594965ALOX15ENSG00000161905.8C>T1.3738e-849376Anterior_cingulate_cortex

meQTL of rs906453 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 )
chr1746059934606164E06711028
chr1745517544551814E068-43151
chr1745519874552673E068-42292
chr1746082854608402E06813320
chr1746359094636292E06840944
chr1746363644636551E06841399
chr1745514394551679E069-43286
chr1745517544551814E069-43151
chr1745519874552673E069-42292
chr1745944044594444E069-521
chr1745945494594602E069-363
chr1746057114605824E06910746
chr1746058384605906E06910873
chr1746059934606164E06911028
chr1746048844604940E0709919
chr1746049744605024E07010009
chr1746050374605148E07010072
chr1746052594605327E07010294
chr1746057114605824E07010746
chr1746058384605906E07010873
chr1746059934606164E07011028
chr1745519874552673E071-42292
chr1746050374605148E07110072
chr1746057114605824E07110746
chr1746058384605906E07110873
chr1746059934606164E07111028
chr1746190994619198E07124134
chr1746439234643973E07148958
chr1745519874552673E072-42292
chr1746059934606164E07211028
chr1746082854608402E07213320
chr1746082854608402E07313320
chr1745519874552673E074-42292
chr1746356944635744E07440729
chr1746359094636292E07440944
chr1745710024571411E081-23554
chr1746059934606164E08111028
chr1746082854608402E08113320
chr1746057114605824E08210746
chr1746058384605906E08210873










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E06711738
chr1746078194607923E06712854
chr1746336904635395E06738725
chr1746414924643765E06746527
chr1746067034607788E06811738
chr1746078194607923E06812854
chr1746336904635395E06838725
chr1746414924643765E06846527
chr1746067034607788E06911738
chr1746078194607923E06912854
chr1746080624608164E06913097
chr1746336904635395E06938725
chr1746414924643765E06946527
chr1746067034607788E07011738
chr1746078194607923E07012854
chr1746080624608164E07013097
chr1746336904635395E07038725
chr1746067034607788E07111738
chr1746078194607923E07112854
chr1746080624608164E07113097
chr1746336904635395E07138725
chr1746414924643765E07146527
chr1746067034607788E07211738
chr1746078194607923E07212854
chr1746080624608164E07213097
chr1746336904635395E07238725
chr1746414924643765E07246527
chr1746067034607788E07311738
chr1746078194607923E07312854
chr1746080624608164E07313097
chr1746336904635395E07338725
chr1746414924643765E07346527
chr1746067034607788E07411738
chr1746078194607923E07412854
chr1746336904635395E07438725
chr1746414924643765E07446527
chr1746067034607788E08111738
chr1746336904635395E08138725
chr1746067034607788E08211738
chr1746078194607923E08212854
chr1746080624608164E08213097
chr1746336904635395E08238725