rs7225717

Homo sapiens
A>G
PELP1 : 2KB Upstream Variant
LOC101559451 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0340 (10165/29886,GnomAD)
A==0403 (11757/29118,TOPMED)
A==0305 (1527/5008,1000G)
A==0288 (1110/3854,ALSPAC)
A==0303 (1125/3708,TWINSUK)
chr17:4704757 (GRCh38.p7) (17p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4704757A>G
GRCh37.p13 chr 17NC_000017.10:g.4608052A>G
RPS12P29 pseudogeneNG_010933.1:g.643T>C

Gene: PELP1, proline, glutamate and leucine rich protein 1(minus strand): 2KB Upstream Variant

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

Gene: LOC101559451, uncharacterized LOC101559451(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101559451 transcriptNR_103482.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.516G=0.484
1000GenomesAmericanSub694A=0.280G=0.720
1000GenomesEast AsianSub1008A=0.172G=0.828
1000GenomesEuropeSub1006A=0.303G=0.697
1000GenomesGlobalStudy-wide5008A=0.305G=0.695
1000GenomesSouth AsianSub978A=0.180G=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.288G=0.712
The Genome Aggregation DatabaseAfricanSub8690A=0.498G=0.502
The Genome Aggregation DatabaseAmericanSub834A=0.250G=0.750
The Genome Aggregation DatabaseEast AsianSub1614A=0.201G=0.799
The Genome Aggregation DatabaseEuropeSub18446A=0.282G=0.717
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.340G=0.659
The Genome Aggregation DatabaseOtherSub302A=0.310G=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.403G=0.596
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.303G=0.697
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
rs72257170.000414alcohol dependence20201924

eQTL of rs7225717 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4608052ALOX15ENSG00000161905.8A>G3.7844e-962463Cerebellum
Chr17:4608052ALOX15ENSG00000161905.8A>G9.8439e-762463Hypothalamus
Chr17:4608052ALOX15ENSG00000161905.8A>G7.5914e-1062463Cortex
Chr17:4608052ALOX15ENSG00000161905.8A>G1.3738e-862463Anterior_cingulate_cortex

meQTL of rs7225717 in Fetal Brain

Probe ID Position Gene beta p-value
cg24831541chr17:4613045ARRB2-0.04178749762237032.0806e-9

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 )
chr1746059934606164E067-1888
chr1746082854608402E068233
chr1746359094636292E06827857
chr1746363644636551E06828312
chr1745944044594444E069-13608
chr1745945494594602E069-13450
chr1746057114605824E069-2228
chr1746058384605906E069-2146
chr1746059934606164E069-1888
chr1746048844604940E070-3112
chr1746049744605024E070-3028
chr1746050374605148E070-2904
chr1746052594605327E070-2725
chr1746057114605824E070-2228
chr1746058384605906E070-2146
chr1746059934606164E070-1888
chr1746050374605148E071-2904
chr1746057114605824E071-2228
chr1746058384605906E071-2146
chr1746059934606164E071-1888
chr1746190994619198E07111047
chr1746439234643973E07135871
chr1746059934606164E072-1888
chr1746082854608402E072233
chr1746082854608402E073233
chr1746356944635744E07427642
chr1746359094636292E07427857
chr1745710024571411E081-36641
chr1746059934606164E081-1888
chr1746082854608402E081233
chr1746057114605824E082-2228
chr1746058384605906E082-2146










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E067-264
chr1746078194607923E067-129
chr1746336904635395E06725638
chr1746414924643765E06733440
chr1746067034607788E068-264
chr1746078194607923E068-129
chr1746336904635395E06825638
chr1746414924643765E06833440
chr1746067034607788E069-264
chr1746078194607923E069-129
chr1746080624608164E06910
chr1746336904635395E06925638
chr1746414924643765E06933440
chr1746067034607788E070-264
chr1746078194607923E070-129
chr1746080624608164E07010
chr1746336904635395E07025638
chr1746067034607788E071-264
chr1746078194607923E071-129
chr1746080624608164E07110
chr1746336904635395E07125638
chr1746414924643765E07133440
chr1746067034607788E072-264
chr1746078194607923E072-129
chr1746080624608164E07210
chr1746336904635395E07225638
chr1746414924643765E07233440
chr1746067034607788E073-264
chr1746078194607923E073-129
chr1746080624608164E07310
chr1746336904635395E07325638
chr1746414924643765E07333440
chr1746067034607788E074-264
chr1746078194607923E074-129
chr1746336904635395E07425638
chr1746414924643765E07433440
chr1746483894649039E07440337
chr1746067034607788E081-264
chr1746336904635395E08125638
chr1746067034607788E082-264
chr1746078194607923E082-129
chr1746080624608164E08210
chr1746336904635395E08225638