rs7215300

Homo sapiens
T>C
PELP1 : 2KB Upstream Variant
LOC101559451 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0340 (10189/29944,GnomAD)
T==0403 (11760/29118,TOPMED)
T==0305 (1526/5008,1000G)
T==0288 (1110/3854,ALSPAC)
T==0303 (1125/3708,TWINSUK)
chr17:4705327 (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.4705327T>C
GRCh37.p13 chr 17NC_000017.10:g.4608622T>C
RPS12P29 pseudogeneNG_010933.1:g.73A>G

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.270T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.515C=0.485
1000GenomesAmericanSub694T=0.280C=0.720
1000GenomesEast AsianSub1008T=0.172C=0.828
1000GenomesEuropeSub1006T=0.303C=0.697
1000GenomesGlobalStudy-wide5008T=0.305C=0.695
1000GenomesSouth AsianSub978T=0.180C=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.288C=0.712
The Genome Aggregation DatabaseAfricanSub8710T=0.497C=0.503
The Genome Aggregation DatabaseAmericanSub838T=0.250C=0.750
The Genome Aggregation DatabaseEast AsianSub1618T=0.200C=0.800
The Genome Aggregation DatabaseEuropeSub18476T=0.283C=0.716
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.340C=0.659
The Genome Aggregation DatabaseOtherSub302T=0.310C=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.403C=0.596
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.303C=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
rs72153000.000588alcohol dependence20201924

eQTL of rs7215300 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4608622ALOX15ENSG00000161905.8T>C3.7844e-963033Cerebellum
Chr17:4608622ALOX15ENSG00000161905.8T>C9.8439e-763033Hypothalamus
Chr17:4608622ALOX15ENSG00000161905.8T>C7.5914e-1063033Cortex
Chr17:4608622ALOX15ENSG00000161905.8T>C1.3738e-863033Anterior_cingulate_cortex

meQTL of rs7215300 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 )
chr1746059934606164E067-2458
chr1746082854608402E068-220
chr1746359094636292E06827287
chr1746363644636551E06827742
chr1745944044594444E069-14178
chr1745945494594602E069-14020
chr1746057114605824E069-2798
chr1746058384605906E069-2716
chr1746059934606164E069-2458
chr1746048844604940E070-3682
chr1746049744605024E070-3598
chr1746050374605148E070-3474
chr1746052594605327E070-3295
chr1746057114605824E070-2798
chr1746058384605906E070-2716
chr1746059934606164E070-2458
chr1746050374605148E071-3474
chr1746057114605824E071-2798
chr1746058384605906E071-2716
chr1746059934606164E071-2458
chr1746190994619198E07110477
chr1746439234643973E07135301
chr1746059934606164E072-2458
chr1746082854608402E072-220
chr1746082854608402E073-220
chr1746356944635744E07427072
chr1746359094636292E07427287
chr1745710024571411E081-37211
chr1746059934606164E081-2458
chr1746082854608402E081-220
chr1746057114605824E082-2798
chr1746058384605906E082-2716










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E067-834
chr1746078194607923E067-699
chr1746336904635395E06725068
chr1746414924643765E06732870
chr1746067034607788E068-834
chr1746078194607923E068-699
chr1746336904635395E06825068
chr1746414924643765E06832870
chr1746067034607788E069-834
chr1746078194607923E069-699
chr1746080624608164E069-458
chr1746336904635395E06925068
chr1746414924643765E06932870
chr1746067034607788E070-834
chr1746078194607923E070-699
chr1746080624608164E070-458
chr1746336904635395E07025068
chr1746067034607788E071-834
chr1746078194607923E071-699
chr1746080624608164E071-458
chr1746336904635395E07125068
chr1746414924643765E07132870
chr1746067034607788E072-834
chr1746078194607923E072-699
chr1746080624608164E072-458
chr1746336904635395E07225068
chr1746414924643765E07232870
chr1746067034607788E073-834
chr1746078194607923E073-699
chr1746080624608164E073-458
chr1746336904635395E07325068
chr1746414924643765E07332870
chr1746067034607788E074-834
chr1746078194607923E074-699
chr1746336904635395E07425068
chr1746414924643765E07432870
chr1746483894649039E07439767
chr1746067034607788E081-834
chr1746336904635395E08125068
chr1746067034607788E082-834
chr1746078194607923E082-699
chr1746080624608164E082-458
chr1746336904635395E08225068