rs12451741

Homo sapiens
G>T
PELP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0342 (10029/29292,GnomAD)
G==0404 (11790/29118,TOPMED)
G==0306 (1532/5008,1000G)
G==0289 (1113/3854,ALSPAC)
G==0305 (1130/3708,TWINSUK)
chr17:4700735 (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.4700735G>T
GRCh37.p13 chr 17NC_000017.10:g.4604030G>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
1000GenomesAfricanSub1322G=0.519T=0.481
1000GenomesAmericanSub694G=0.280T=0.720
1000GenomesEast AsianSub1008G=0.170T=0.830
1000GenomesEuropeSub1006G=0.305T=0.695
1000GenomesGlobalStudy-wide5008G=0.306T=0.694
1000GenomesSouth AsianSub978G=0.180T=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.289T=0.711
The Genome Aggregation DatabaseAfricanSub8588G=0.499T=0.501
The Genome Aggregation DatabaseAmericanSub832G=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1600G=0.200T=0.800
The Genome Aggregation DatabaseEuropeSub17972G=0.285T=0.714
The Genome Aggregation DatabaseGlobalStudy-wide29292G=0.342T=0.657
The Genome Aggregation DatabaseOtherSub300G=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.404T=0.595
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.305T=0.695
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
rs124517410.000788alcohol dependence20201924

eQTL of rs12451741 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4604030ALOX15ENSG00000161905.8G>T3.7844e-958441Cerebellum
Chr17:4604030ALOX15ENSG00000161905.8G>T9.8439e-758441Hypothalamus
Chr17:4604030ALOX15ENSG00000161905.8G>T7.5914e-1058441Cortex
Chr17:4604030ALOX15ENSG00000161905.8G>T1.3738e-858441Anterior_cingulate_cortex

meQTL of rs12451741 in Fetal Brain

Probe ID Position Gene beta p-value
cg24831541chr17:4613045ARRB2-0.04079010250539385.7938e-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 )
chr1746059934606164E0671963
chr1746082854608402E0684255
chr1746359094636292E06831879
chr1746363644636551E06832334
chr1745944044594444E069-9586
chr1745945494594602E069-9428
chr1746057114605824E0691681
chr1746058384605906E0691808
chr1746059934606164E0691963
chr1746048844604940E070854
chr1746049744605024E070944
chr1746050374605148E0701007
chr1746052594605327E0701229
chr1746057114605824E0701681
chr1746058384605906E0701808
chr1746059934606164E0701963
chr1746050374605148E0711007
chr1746057114605824E0711681
chr1746058384605906E0711808
chr1746059934606164E0711963
chr1746190994619198E07115069
chr1746439234643973E07139893
chr1746059934606164E0721963
chr1746082854608402E0724255
chr1746082854608402E0734255
chr1746356944635744E07431664
chr1746359094636292E07431879
chr1745710024571411E081-32619
chr1746059934606164E0811963
chr1746082854608402E0814255
chr1746057114605824E0821681
chr1746058384605906E0821808










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E0672673
chr1746078194607923E0673789
chr1746336904635395E06729660
chr1746414924643765E06737462
chr1746067034607788E0682673
chr1746078194607923E0683789
chr1746336904635395E06829660
chr1746414924643765E06837462
chr1746067034607788E0692673
chr1746078194607923E0693789
chr1746080624608164E0694032
chr1746336904635395E06929660
chr1746414924643765E06937462
chr1746067034607788E0702673
chr1746078194607923E0703789
chr1746080624608164E0704032
chr1746336904635395E07029660
chr1746067034607788E0712673
chr1746078194607923E0713789
chr1746080624608164E0714032
chr1746336904635395E07129660
chr1746414924643765E07137462
chr1746067034607788E0722673
chr1746078194607923E0723789
chr1746080624608164E0724032
chr1746336904635395E07229660
chr1746414924643765E07237462
chr1746067034607788E0732673
chr1746078194607923E0733789
chr1746080624608164E0734032
chr1746336904635395E07329660
chr1746414924643765E07337462
chr1746067034607788E0742673
chr1746078194607923E0743789
chr1746336904635395E07429660
chr1746414924643765E07437462
chr1746483894649039E07444359
chr1746067034607788E0812673
chr1746336904635395E08129660
chr1746067034607788E0822673
chr1746078194607923E0823789
chr1746080624608164E0824032
chr1746336904635395E08229660