rs4705088

Homo sapiens
T>G
PPARGC1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0452 (13530/29886,GnomAD)
G=0410 (11938/29118,TOPMED)
G=0445 (2227/5008,1000G)
T==0489 (1885/3854,ALSPAC)
T==0500 (1854/3708,TWINSUK)
G=0500 (1854/3708,TWINSUK)
chr5:149757069 (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.149757069T>G
GRCh37.p13 chr 5NC_000005.9:g.149136632T>G
PPARGC1B RefSeqGeneNG_016747.1:g.31818T>G

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
1000GenomesAfricanSub1322T=0.694G=0.306
1000GenomesAmericanSub694T=0.570G=0.430
1000GenomesEast AsianSub1008T=0.495G=0.505
1000GenomesEuropeSub1006T=0.514G=0.486
1000GenomesGlobalStudy-wide5008T=0.555G=0.445
1000GenomesSouth AsianSub978T=0.460G=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.489G=0.511
The Genome Aggregation DatabaseAfricanSub8682T=0.672G=0.328
The Genome Aggregation DatabaseAmericanSub838T=0.550G=0.450
The Genome Aggregation DatabaseEast AsianSub1612T=0.520G=0.480
The Genome Aggregation DatabaseEuropeSub18454T=0.491G=0.508
The Genome Aggregation DatabaseGlobalStudy-wide29886T=0.547G=0.452
The Genome Aggregation DatabaseOtherSub300T=0.510G=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.590G=0.410
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.500G=0.500
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47050880.000201alcohol dependence21314694

eQTL of rs4705088 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 rs4705088 in Fetal Brain

Probe ID Position Gene beta p-value
cg15809858chr5:149111017PPARGC1B0.01444125056813354.1728e-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 )
chr5149114700149115042E067-21590
chr5149115074149115142E067-21490
chr5149115147149115308E067-21324
chr5149120030149120232E067-16400
chr5149139620149139891E0672988
chr5149146623149147166E0679991
chr5149147208149147317E06710576
chr5149156168149156223E06719536
chr5149156328149156707E06719696
chr5149156881149156969E06720249
chr5149161292149161535E06724660
chr5149161626149162702E06724994
chr5149172835149172965E06736203
chr5149173160149173225E06736528
chr5149173653149173848E06737021
chr5149173864149174441E06737232
chr5149174504149174644E06737872
chr5149174724149174776E06738092
chr5149174996149175076E06738364
chr5149180992149181086E06744360
chr5149185223149186153E06748591
chr5149114700149115042E068-21590
chr5149139620149139891E0682988
chr5149140199149140587E0683567
chr5149146623149147166E0689991
chr5149147208149147317E06810576
chr5149151231149151402E06814599
chr5149152647149152709E06816015
chr5149152754149152812E06816122
chr5149152906149153005E06816274
chr5149153097149153184E06816465
chr5149156168149156223E06819536
chr5149156328149156707E06819696
chr5149156881149156969E06820249
chr5149159262149159442E06822630
chr5149159498149159620E06822866
chr5149159736149159963E06823104
chr5149160075149160159E06823443
chr5149160213149160557E06823581
chr5149160794149161105E06824162
chr5149161292149161535E06824660
chr5149161626149162702E06824994
chr5149169329149169394E06832697
chr5149169541149169648E06832909
chr5149169688149169732E06833056
chr5149169950149170159E06833318
chr5149172835149172965E06836203
chr5149173160149173225E06836528
chr5149173653149173848E06837021
chr5149173864149174441E06837232
chr5149180992149181086E06844360
chr5149181264149181924E06844632
chr5149182141149182279E06845509
chr5149185223149186153E06848591
chr5149120030149120232E069-16400
chr5149120688149120956E069-15676
chr5149121564149121651E069-14981
chr5149161626149162702E06924994
chr5149173864149174441E06937232
chr5149174504149174644E06937872
chr5149174724149174776E06938092
chr5149174996149175076E06938364
chr5149185223149186153E06948591
chr5149156168149156223E07119536
chr5149161626149162702E07124994
chr5149172835149172965E07136203
chr5149173160149173225E07136528
chr5149173653149173848E07137021
chr5149173864149174441E07137232
chr5149174504149174644E07137872
chr5149179999149180052E07143367
chr5149180198149180291E07143566
chr5149180389149180559E07143757
chr5149185223149186153E07148591
chr5149120030149120232E072-16400
chr5149120688149120956E072-15676
chr5149121564149121651E072-14981
chr5149121990149122172E072-14460
chr5149125576149125693E072-10939
chr5149131848149131950E072-4682
chr5149159262149159442E07222630
chr5149159498149159620E07222866
chr5149159736149159963E07223104
chr5149172835149172965E07236203
chr5149173160149173225E07236528
chr5149173864149174441E07237232
chr5149174504149174644E07237872
chr5149174724149174776E07238092
chr5149174996149175076E07238364
chr5149175140149175247E07238508
chr5149175383149175470E07238751
chr5149175600149175964E07238968
chr5149176193149176548E07239561
chr5149176622149176835E07239990
chr5149178574149179205E07241942
chr5149180992149181086E07244360
chr5149185223149186153E07248591
chr5149119031149119087E073-17545
chr5149120030149120232E073-16400
chr5149120688149120956E073-15676
chr5149121564149121651E073-14981
chr5149139620149139891E0732988
chr5149140199149140587E0733567
chr5149160794149161105E07324162
chr5149161292149161535E07324660
chr5149161626149162702E07324994
chr5149171508149171790E07334876
chr5149173160149173225E07336528
chr5149173653149173848E07337021
chr5149173864149174441E07337232
chr5149174504149174644E07337872
chr5149174724149174776E07338092
chr5149174996149175076E07338364
chr5149175140149175247E07338508
chr5149175383149175470E07338751
chr5149175600149175964E07338968
chr5149176193149176548E07339561
chr5149176622149176835E07339990
chr5149178067149178387E07341435
chr5149178444149178534E07341812
chr5149178574149179205E07341942
chr5149180198149180291E07343566
chr5149180389149180559E07343757
chr5149180815149180884E07344183
chr5149180992149181086E07344360
chr5149181264149181924E07344632
chr5149182141149182279E07345509
chr5149183156149183228E07346524
chr5149183300149183894E07346668
chr5149184160149184335E07347528
chr5149184416149184776E07347784
chr5149185223149186153E07348591
chr5149174504149174644E07437872
chr5149174724149174776E07438092
chr5149174996149175076E07438364
chr5149185223149186153E07448591
chr5149120030149120232E081-16400
chr5149120688149120956E081-15676
chr5149156881149156969E08120249
chr5149157027149157344E08120395
chr5149157409149157541E08120777
chr5149157546149157617E08120914
chr5149157641149157862E08121009
chr5149171508149171790E08134876
chr5149172835149172965E08136203
chr5149173160149173225E08136528
chr5149173653149173848E08137021
chr5149173864149174441E08137232
chr5149174504149174644E08137872
chr5149174724149174776E08138092
chr5149174996149175076E08138364
chr5149175140149175247E08138508
chr5149175383149175470E08138751
chr5149175600149175964E08138968
chr5149176193149176548E08139561
chr5149176622149176835E08139990
chr5149179749149179799E08143117
chr5149179824149179885E08143192
chr5149179999149180052E08143367
chr5149180198149180291E08143566
chr5149180389149180559E08143757
chr5149180815149180884E08144183
chr5149180992149181086E08144360
chr5149181264149181924E08144632
chr5149182141149182279E08145509
chr5149157903149157955E08221271
chr5149173160149173225E08236528
chr5149173653149173848E08237021
chr5149173864149174441E08237232
chr5149174504149174644E08237872
chr5149174724149174776E08238092
chr5149174996149175076E08238364
chr5149175140149175247E08238508
chr5149176193149176548E08239561
chr5149179999149180052E08243367
chr5149180198149180291E08243566
chr5149180389149180559E08243757









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5149109450149112492E067-24140
chr5149109450149112492E068-24140
chr5149109450149112492E069-24140
chr5149109450149112492E070-24140
chr5149109450149112492E071-24140
chr5149109450149112492E072-24140
chr5149109450149112492E073-24140
chr5149109450149112492E074-24140