rs647381

Homo sapiens
A>G
PPARGC1A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0327 (9787/29928,GnomAD)
G=0337 (9819/29118,TOPMED)
G=0377 (1889/5008,1000G)
G=0339 (1307/3854,ALSPAC)
G=0369 (1367/3708,TWINSUK)
chr4:24058982 (GRCh38.p7) (4p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.24058982A>G
GRCh37.p13 chr 4NC_000004.11:g.24060605A>G

Gene: PPARGC1A, PPARG coactivator 1 alpha(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPARGC1A transcriptNM_013261.3:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X6XM_005248134.4:c.N/AIntron Variant
PPARGC1A transcript variant X4XM_011513765.2:c.N/AIntron Variant
PPARGC1A transcript variant X7XM_011513769.2:c.N/AIntron Variant
PPARGC1A transcript variant X1XM_017007664.1:c.N/AIntron Variant
PPARGC1A transcript variant X2XM_005248131.4:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X3XM_005248132.1:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X4XM_011513766.1:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X6XM_011513767.2:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X5XM_011513768.1:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X10XM_011513770.2:c.N/AGenic Upstream Transcript Variant
PPARGC1A transcript variant X8XM_011513771.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.669G=0.331
1000GenomesAmericanSub694A=0.630G=0.370
1000GenomesEast AsianSub1008A=0.627G=0.373
1000GenomesEuropeSub1006A=0.626G=0.374
1000GenomesGlobalStudy-wide5008A=0.623G=0.377
1000GenomesSouth AsianSub978A=0.550G=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.661G=0.339
The Genome Aggregation DatabaseAfricanSub8702A=0.686G=0.314
The Genome Aggregation DatabaseAmericanSub834A=0.650G=0.350
The Genome Aggregation DatabaseEast AsianSub1614A=0.641G=0.359
The Genome Aggregation DatabaseEuropeSub18476A=0.671G=0.328
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.673G=0.327
The Genome Aggregation DatabaseOtherSub302A=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.662G=0.337
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.631G=0.369
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
rs6473810.00041alcohol dependence20201924

eQTL of rs647381 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 rs647381 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

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 )
chr42406911124069832E0678506
chr42405745224057599E068-3006
chr42405776724058523E068-2082
chr42406911124069832E0688506
chr42410508324106217E06844478
chr42405776724058523E069-2082
chr42407182924072079E06911224
chr42409316824093222E06932563
chr42409336124093777E06932756
chr42410508324106217E06944478
chr42410636324106660E06945758
chr42401540324015601E070-45004
chr42401562424015693E070-44912
chr42410508324106217E07044478
chr42405745224057599E071-3006
chr42405776724058523E071-2082
chr42405946024059621E071-984
chr42406911124069832E0718506
chr42406996424070040E0719359
chr42407182924072079E07111224
chr42410508324106217E07144478
chr42405745224057599E072-3006
chr42406911124069832E0728506
chr42407182924072079E07211224
chr42409316824093222E07232563
chr42409336124093777E07232756
chr42410487524104944E07244270
chr42406996424070040E0739359
chr42409316824093222E07332563
chr42409336124093777E07332756
chr42410487524104944E07344270
chr42410508324106217E07344478
chr42410636324106660E07345758
chr42401540324015601E074-45004
chr42401562424015693E074-44912
chr42405745224057599E074-3006
chr42405776724058523E074-2082
chr42406911124069832E0748506
chr42407160924071668E07411004
chr42407182924072079E07411224
chr42409316824093222E07432563
chr42409336124093777E07432756
chr42401232024012785E081-47820
chr42401282524012912E081-47693
chr42401294824012998E081-47607
chr42410430724104655E08143702
chr42410487524104944E08144270
chr42410508324106217E08144478
chr42401282524012912E082-47693
chr42401294824012998E082-47607