rs4705371

Homo sapiens
C>A
PPARGC1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0338 (10134/29912,GnomAD)
A=0291 (8488/29118,TOPMED)
A=0291 (1459/5008,1000G)
A=0391 (1508/3854,ALSPAC)
A=0384 (1425/3708,TWINSUK)
chr5:149758061 (GRCh38.p7) (5q32)
AD
GWASdb2
1   publication(s)
See rs on genome
177 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.149758061C>A
GRCh37.p13 chr 5NC_000005.9:g.149137624C>A
PPARGC1B RefSeqGeneNG_016747.1:g.32810C>A

Gene: PPARGC1B, PPARG coactivator 1 beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPARGC1B transcript variant 2NM_001172698.1:c.N/AIntron Variant
PPARGC1B transcript variant 1NM_133263.3:c.N/AIntron Variant
PPARGC1B transcript variant 3NM_001172699.1:c.N/AGenic Upstream Transcript Variant
PPARGC1B transcript variant X1XM_011537553.2:c.N/AIntron Variant
PPARGC1B transcript variant X3XM_011537555.2:c.N/AIntron Variant
PPARGC1B transcript variant X6XM_011537557.1:c.N/AIntron Variant
PPARGC1B transcript variant X4XM_005268372.4:c.N/AGenic Upstream Transcript Variant
PPARGC1B transcript variant X2XM_011537554.2:c.N/AGenic Upstream Transcript Variant
PPARGC1B transcript variant X5XM_011537556.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.827A=0.173
1000GenomesAmericanSub694C=0.700A=0.300
1000GenomesEast AsianSub1008C=0.732A=0.268
1000GenomesEuropeSub1006C=0.607A=0.393
1000GenomesGlobalStudy-wide5008C=0.709A=0.291
1000GenomesSouth AsianSub978C=0.630A=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.609A=0.391
The Genome Aggregation DatabaseAfricanSub8704C=0.794A=0.206
The Genome Aggregation DatabaseAmericanSub834C=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1622C=0.747A=0.253
The Genome Aggregation DatabaseEuropeSub18452C=0.591A=0.408
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.661A=0.338
The Genome Aggregation DatabaseOtherSub300C=0.590A=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.708A=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.616A=0.384
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
rs47053710.000546alcohol dependence20201924

eQTL of rs4705371 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 rs4705371 in Fetal Brain

Probe ID Position Gene beta p-value
cg15809858chr5:149111017PPARGC1B0.02087574486358041.1464e-18

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 )
chr5149114700149115042E067-22582
chr5149115074149115142E067-22482
chr5149115147149115308E067-22316
chr5149120030149120232E067-17392
chr5149139620149139891E0671996
chr5149146623149147166E0678999
chr5149147208149147317E0679584
chr5149156168149156223E06718544
chr5149156328149156707E06718704
chr5149156881149156969E06719257
chr5149161292149161535E06723668
chr5149161626149162702E06724002
chr5149172835149172965E06735211
chr5149173160149173225E06735536
chr5149173653149173848E06736029
chr5149173864149174441E06736240
chr5149174504149174644E06736880
chr5149174724149174776E06737100
chr5149174996149175076E06737372
chr5149180992149181086E06743368
chr5149185223149186153E06747599
chr5149114700149115042E068-22582
chr5149139620149139891E0681996
chr5149140199149140587E0682575
chr5149146623149147166E0688999
chr5149147208149147317E0689584
chr5149151231149151402E06813607
chr5149152647149152709E06815023
chr5149152754149152812E06815130
chr5149152906149153005E06815282
chr5149153097149153184E06815473
chr5149156168149156223E06818544
chr5149156328149156707E06818704
chr5149156881149156969E06819257
chr5149159262149159442E06821638
chr5149159498149159620E06821874
chr5149159736149159963E06822112
chr5149160075149160159E06822451
chr5149160213149160557E06822589
chr5149160794149161105E06823170
chr5149161292149161535E06823668
chr5149161626149162702E06824002
chr5149169329149169394E06831705
chr5149169541149169648E06831917
chr5149169688149169732E06832064
chr5149169950149170159E06832326
chr5149172835149172965E06835211
chr5149173160149173225E06835536
chr5149173653149173848E06836029
chr5149173864149174441E06836240
chr5149180992149181086E06843368
chr5149181264149181924E06843640
chr5149182141149182279E06844517
chr5149185223149186153E06847599
chr5149120030149120232E069-17392
chr5149120688149120956E069-16668
chr5149121564149121651E069-15973
chr5149161626149162702E06924002
chr5149173864149174441E06936240
chr5149174504149174644E06936880
chr5149174724149174776E06937100
chr5149174996149175076E06937372
chr5149185223149186153E06947599
chr5149156168149156223E07118544
chr5149161626149162702E07124002
chr5149172835149172965E07135211
chr5149173160149173225E07135536
chr5149173653149173848E07136029
chr5149173864149174441E07136240
chr5149174504149174644E07136880
chr5149179999149180052E07142375
chr5149180198149180291E07142574
chr5149180389149180559E07142765
chr5149185223149186153E07147599
chr5149120030149120232E072-17392
chr5149120688149120956E072-16668
chr5149121564149121651E072-15973
chr5149121990149122172E072-15452
chr5149125576149125693E072-11931
chr5149131848149131950E072-5674
chr5149159262149159442E07221638
chr5149159498149159620E07221874
chr5149159736149159963E07222112
chr5149172835149172965E07235211
chr5149173160149173225E07235536
chr5149173864149174441E07236240
chr5149174504149174644E07236880
chr5149174724149174776E07237100
chr5149174996149175076E07237372
chr5149175140149175247E07237516
chr5149175383149175470E07237759
chr5149175600149175964E07237976
chr5149176193149176548E07238569
chr5149176622149176835E07238998
chr5149178574149179205E07240950
chr5149180992149181086E07243368
chr5149185223149186153E07247599
chr5149119031149119087E073-18537
chr5149120030149120232E073-17392
chr5149120688149120956E073-16668
chr5149121564149121651E073-15973
chr5149139620149139891E0731996
chr5149140199149140587E0732575
chr5149160794149161105E07323170
chr5149161292149161535E07323668
chr5149161626149162702E07324002
chr5149171508149171790E07333884
chr5149173160149173225E07335536
chr5149173653149173848E07336029
chr5149173864149174441E07336240
chr5149174504149174644E07336880
chr5149174724149174776E07337100
chr5149174996149175076E07337372
chr5149175140149175247E07337516
chr5149175383149175470E07337759
chr5149175600149175964E07337976
chr5149176193149176548E07338569
chr5149176622149176835E07338998
chr5149178067149178387E07340443
chr5149178444149178534E07340820
chr5149178574149179205E07340950
chr5149180198149180291E07342574
chr5149180389149180559E07342765
chr5149180815149180884E07343191
chr5149180992149181086E07343368
chr5149181264149181924E07343640
chr5149182141149182279E07344517
chr5149183156149183228E07345532
chr5149183300149183894E07345676
chr5149184160149184335E07346536
chr5149184416149184776E07346792
chr5149185223149186153E07347599
chr5149174504149174644E07436880
chr5149174724149174776E07437100
chr5149174996149175076E07437372
chr5149185223149186153E07447599
chr5149120030149120232E081-17392
chr5149120688149120956E081-16668
chr5149156881149156969E08119257
chr5149157027149157344E08119403
chr5149157409149157541E08119785
chr5149157546149157617E08119922
chr5149157641149157862E08120017
chr5149171508149171790E08133884
chr5149172835149172965E08135211
chr5149173160149173225E08135536
chr5149173653149173848E08136029
chr5149173864149174441E08136240
chr5149174504149174644E08136880
chr5149174724149174776E08137100
chr5149174996149175076E08137372
chr5149175140149175247E08137516
chr5149175383149175470E08137759
chr5149175600149175964E08137976
chr5149176193149176548E08138569
chr5149176622149176835E08138998
chr5149179749149179799E08142125
chr5149179824149179885E08142200
chr5149179999149180052E08142375
chr5149180198149180291E08142574
chr5149180389149180559E08142765
chr5149180815149180884E08143191
chr5149180992149181086E08143368
chr5149181264149181924E08143640
chr5149182141149182279E08144517
chr5149157903149157955E08220279
chr5149173160149173225E08235536
chr5149173653149173848E08236029
chr5149173864149174441E08236240
chr5149174504149174644E08236880
chr5149174724149174776E08237100
chr5149174996149175076E08237372
chr5149175140149175247E08237516
chr5149176193149176548E08238569
chr5149179999149180052E08242375
chr5149180198149180291E08242574
chr5149180389149180559E08242765









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5149109450149112492E067-25132
chr5149109450149112492E068-25132
chr5149109450149112492E069-25132
chr5149109450149112492E070-25132
chr5149109450149112492E071-25132
chr5149109450149112492E072-25132
chr5149109450149112492E073-25132
chr5149109450149112492E074-25132