rs6027132

Homo sapiens
C>T
PHACTR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0478 (14318/29904,GnomAD)
T=0470 (13688/29118,TOPMED)
T=0500 (2502/5008,1000G)
C==0373 (1438/3854,ALSPAC)
C==0373 (1383/3708,TWINSUK)
chr20:59809396 (GRCh38.p7) (20q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
421 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.59809396C>T
GRCh37.p13 chr 20NC_000020.10:g.58384451C>T
PHACTR3 RefSeqGeneNG_029537.1:g.236888C>T

Gene: PHACTR3, phosphatase and actin regulator 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PHACTR3 transcript variant 4NM_001199505.1:c.N/AIntron Variant
PHACTR3 transcript variant 5NM_001199506.1:c.N/AIntron Variant
PHACTR3 transcript variant 6NM_001281507.1:c.N/AIntron Variant
PHACTR3 transcript variant 1NM_080672.4:c.N/AIntron Variant
PHACTR3 transcript variant 2NM_183244.1:c.N/AIntron Variant
PHACTR3 transcript variant 3NM_183246.1:c.N/AIntron Variant
PHACTR3 transcript variant X2XM_011528525.2:c.N/AIntron Variant
PHACTR3 transcript variant X4XM_011528526.2:c.N/AIntron Variant
PHACTR3 transcript variant X1XM_017027626.1:c.N/AIntron Variant
PHACTR3 transcript variant X3XM_017027627.1:c.N/AIntron Variant
PHACTR3 transcript variant X5XM_017027628.1:c.N/AIntron Variant
PHACTR3 transcript variant X6XM_017027629.1:c.N/AIntron Variant
PHACTR3 transcript variant X7XM_017027630.1:c.N/AIntron Variant
PHACTR3 transcript variant X8XM_017027631.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744T=0.256
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.442T=0.558
1000GenomesEuropeSub1006C=0.410T=0.590
1000GenomesGlobalStudy-wide5008C=0.500T=0.500
1000GenomesSouth AsianSub978C=0.440T=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.373T=0.627
The Genome Aggregation DatabaseAfricanSub8680C=0.708T=0.292
The Genome Aggregation DatabaseAmericanSub838C=0.340T=0.660
The Genome Aggregation DatabaseEast AsianSub1612C=0.462T=0.538
The Genome Aggregation DatabaseEuropeSub18472C=0.378T=0.621
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.478T=0.521
The Genome Aggregation DatabaseOtherSub302C=0.540T=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.529T=0.470
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.373T=0.627
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs60271321.74E-05alcohol consumption23743675

eQTL of rs6027132 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 rs6027132 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 )
chr205834607258346273E067-38178
chr205834636258346412E067-38039
chr205834644758346527E067-37924
chr205834654158346645E067-37806
chr205834670658346862E067-37589
chr205834984758349938E067-34513
chr205835008258350132E067-34319
chr205835022658350311E067-34140
chr205835060758350695E067-33756
chr205835159958351639E067-32812
chr205835862858358678E067-25773
chr205835870258358783E067-25668
chr205835905858359181E067-25270
chr205836167258361902E067-22549
chr205836213858362178E067-22273
chr205836224958362324E067-22127
chr205836239258362446E067-22005
chr205837761258378256E067-6195
chr205837897958379078E067-5373
chr205837952858379939E067-4512
chr205838011758380366E067-4085
chr205838535858385418E067907
chr205838543958385701E067988
chr205838574158385952E0671290
chr205838634858386432E0671897
chr205838692958387022E0672478
chr205838707858387119E0672627
chr205838712758387245E0672676
chr205838748958387652E0673038
chr205838772058387774E0673269
chr205838791058387975E0673459
chr205838832458388374E0673873
chr205838917358389250E0674722
chr205838925558389321E0674804
chr205838957158389685E0675120
chr205838972258389836E0675271
chr205839259558392664E0678144
chr205839487558395205E06710424
chr205839534058396182E06710889
chr205839656858396632E06712117
chr205839787458397924E06713423
chr205839913358399214E06714682
chr205839932258399377E06714871
chr205839947358399731E06715022
chr205839973758399939E06715286
chr205840014558400195E06715694
chr205840025058400340E06715799
chr205840405458405274E06719603
chr205840571658405934E06721265
chr205840599458406552E06721543
chr205840655858407506E06722107
chr205840795258408048E06723501
chr205841005958410534E06725608
chr205841055858411316E06726107
chr205834670658346862E068-37589
chr205834700758347192E068-37259
chr205835245658352680E068-31771
chr205835862858358678E068-25773
chr205835870258358783E068-25668
chr205837761258378256E068-6195
chr205837897958379078E068-5373
chr205837952858379939E068-4512
chr205838535858385418E068907
chr205838543958385701E068988
chr205838574158385952E0681290
chr205838634858386432E0681897
chr205838707858387119E0682627
chr205838917358389250E0684722
chr205838925558389321E0684804
chr205838957158389685E0685120
chr205838972258389836E0685271
chr205839487558395205E06810424
chr205839534058396182E06810889
chr205839656858396632E06812117
chr205839846058399074E06814009
chr205839913358399214E06814682
chr205839932258399377E06814871
chr205839947358399731E06815022
chr205839973758399939E06815286
chr205840014558400195E06815694
chr205840025058400340E06815799
chr205840039358400523E06815942
chr205840405458405274E06819603
chr205840571658405934E06821265
chr205840599458406552E06821543
chr205840655858407506E06822107
chr205841005958410534E06825608
chr205833641058336455E069-47996
chr205833649658336546E069-47905
chr205833658058336648E069-47803
chr205834607258346273E069-38178
chr205834636258346412E069-38039
chr205834644758346527E069-37924
chr205834654158346645E069-37806
chr205834670658346862E069-37589
chr205835159958351639E069-32812
chr205835245658352680E069-31771
chr205835284658352955E069-31496
chr205835796558358428E069-26023
chr205835862858358678E069-25773
chr205835870258358783E069-25668
chr205835905858359181E069-25270
chr205835950058359567E069-24884
chr205835958158359635E069-24816
chr205836015858360291E069-24160
chr205836053958360708E069-23743
chr205836071458360858E069-23593
chr205836167258361902E069-22549
chr205836213858362178E069-22273
chr205836224958362324E069-22127
chr205837761258378256E069-6195
chr205837897958379078E069-5373
chr205837952858379939E069-4512
chr205838011758380366E069-4085
chr205838038058380458E069-3993
chr205838535858385418E069907
chr205838543958385701E069988
chr205838574158385952E0691290
chr205838634858386432E0691897
chr205838692958387022E0692478
chr205838707858387119E0692627
chr205838712758387245E0692676
chr205838832458388374E0693873
chr205838917358389250E0694722
chr205838925558389321E0694804
chr205838957158389685E0695120
chr205838972258389836E0695271
chr205839487558395205E06910424
chr205839534058396182E06910889
chr205839656858396632E06912117
chr205839787458397924E06913423
chr205839846058399074E06914009
chr205839913358399214E06914682
chr205839932258399377E06914871
chr205839947358399731E06915022
chr205839973758399939E06915286
chr205840014558400195E06915694
chr205840025058400340E06915799
chr205840039358400523E06915942
chr205840571658405934E06921265
chr205840599458406552E06921543
chr205840655858407506E06922107
chr205840795258408048E06923501
chr205841005958410534E06925608
chr205841055858411316E06926107
chr205834636258346412E070-38039
chr205834644758346527E070-37924
chr205834654158346645E070-37806
chr205834670658346862E070-37589
chr205838535858385418E070907
chr205838543958385701E070988
chr205838574158385952E0701290
chr205838634858386432E0701897
chr205839487558395205E07010424
chr205839534058396182E07010889
chr205841005958410534E07025608
chr205833641058336455E071-47996
chr205833649658336546E071-47905
chr205833658058336648E071-47803
chr205834099558341045E071-43406
chr205834607258346273E071-38178
chr205834636258346412E071-38039
chr205834644758346527E071-37924
chr205834654158346645E071-37806
chr205834670658346862E071-37589
chr205835060758350695E071-33756
chr205835159958351639E071-32812
chr205835245658352680E071-31771
chr205835862858358678E071-25773
chr205835870258358783E071-25668
chr205836167258361902E071-22549
chr205836213858362178E071-22273
chr205837761258378256E071-6195
chr205837897958379078E071-5373
chr205837952858379939E071-4512
chr205838535858385418E071907
chr205838543958385701E071988
chr205838574158385952E0711290
chr205838748958387652E0713038
chr205838772058387774E0713269
chr205838791058387975E0713459
chr205838832458388374E0713873
chr205838917358389250E0714722
chr205838925558389321E0714804
chr205838957158389685E0715120
chr205838972258389836E0715271
chr205839487558395205E07110424
chr205839534058396182E07110889
chr205839656858396632E07112117
chr205839787458397924E07113423
chr205839947358399731E07115022
chr205839973758399939E07115286
chr205840014558400195E07115694
chr205840571658405934E07121265
chr205840599458406552E07121543
chr205840655858407506E07122107
chr205840795258408048E07123501
chr205840830758408361E07123856
chr205840845658408539E07124005
chr205841005958410534E07125608
chr205834607258346273E072-38178
chr205834636258346412E072-38039
chr205834644758346527E072-37924
chr205834654158346645E072-37806
chr205834670658346862E072-37589
chr205834700758347192E072-37259
chr205835008258350132E072-34319
chr205835022658350311E072-34140
chr205835060758350695E072-33756
chr205835862858358678E072-25773
chr205835870258358783E072-25668
chr205835905858359181E072-25270
chr205835950058359567E072-24884
chr205835958158359635E072-24816
chr205836015858360291E072-24160
chr205836053958360708E072-23743
chr205836071458360858E072-23593
chr205836213858362178E072-22273
chr205836224958362324E072-22127
chr205837761258378256E072-6195
chr205837897958379078E072-5373
chr205837952858379939E072-4512
chr205838011758380366E072-4085
chr205838038058380458E072-3993
chr205838535858385418E072907
chr205838543958385701E072988
chr205838574158385952E0721290
chr205838634858386432E0721897
chr205838692958387022E0722478
chr205838707858387119E0722627
chr205838712758387245E0722676
chr205838748958387652E0723038
chr205838772058387774E0723269
chr205838791058387975E0723459
chr205838832458388374E0723873
chr205838917358389250E0724722
chr205838925558389321E0724804
chr205838957158389685E0725120
chr205838972258389836E0725271
chr205839487558395205E07210424
chr205839534058396182E07210889
chr205839656858396632E07212117
chr205839787458397924E07213423
chr205839913358399214E07214682
chr205839932258399377E07214871
chr205839947358399731E07215022
chr205839973758399939E07215286
chr205840014558400195E07215694
chr205840025058400340E07215799
chr205840039358400523E07215942
chr205840077058400846E07216319
chr205840095158401110E07216500
chr205840119258402169E07216741
chr205840222158402514E07217770
chr205840255258402602E07218101
chr205840266758402825E07218216
chr205840291758403028E07218466
chr205840312258403162E07218671
chr205840405458405274E07219603
chr205840571658405934E07221265
chr205840599458406552E07221543
chr205840655858407506E07222107
chr205840973258409782E07225281
chr205841005958410534E07225608
chr205841055858411316E07226107
chr205834607258346273E073-38178
chr205834636258346412E073-38039
chr205834644758346527E073-37924
chr205834654158346645E073-37806
chr205837761258378256E073-6195
chr205837897958379078E073-5373
chr205837952858379939E073-4512
chr205838011758380366E073-4085
chr205838038058380458E073-3993
chr205838535858385418E073907
chr205838543958385701E073988
chr205838574158385952E0731290
chr205838634858386432E0731897
chr205838692958387022E0732478
chr205838707858387119E0732627
chr205838712758387245E0732676
chr205838748958387652E0733038
chr205838772058387774E0733269
chr205838791058387975E0733459
chr205838832458388374E0733873
chr205838917358389250E0734722
chr205838925558389321E0734804
chr205838957158389685E0735120
chr205838972258389836E0735271
chr205839487558395205E07310424
chr205839534058396182E07310889
chr205839656858396632E07312117
chr205839787458397924E07313423
chr205839913358399214E07314682
chr205839932258399377E07314871
chr205839947358399731E07315022
chr205839973758399939E07315286
chr205840014558400195E07315694
chr205840025058400340E07315799
chr205840222158402514E07317770
chr205840255258402602E07318101
chr205840266758402825E07318216
chr205840291758403028E07318466
chr205840312258403162E07318671
chr205840405458405274E07319603
chr205840571658405934E07321265
chr205840599458406552E07321543
chr205840655858407506E07322107
chr205841005958410534E07325608
chr205841055858411316E07326107
chr205841304158414073E07328590
chr205834072758340903E074-43548
chr205834094558340989E074-43462
chr205834099558341045E074-43406
chr205834607258346273E074-38178
chr205834636258346412E074-38039
chr205834644758346527E074-37924
chr205834654158346645E074-37806
chr205834670658346862E074-37589
chr205834700758347192E074-37259
chr205835060758350695E074-33756
chr205835159958351639E074-32812
chr205835245658352680E074-31771
chr205835284658352955E074-31496
chr205835862858358678E074-25773
chr205835870258358783E074-25668
chr205835905858359181E074-25270
chr205836053958360708E074-23743
chr205836071458360858E074-23593
chr205837761258378256E074-6195
chr205837897958379078E074-5373
chr205837952858379939E074-4512
chr205838011758380366E074-4085
chr205838038058380458E074-3993
chr205838917358389250E0744722
chr205838925558389321E0744804
chr205838957158389685E0745120
chr205838972258389836E0745271
chr205839227958392351E0747828
chr205839252058392578E0748069
chr205839259558392664E0748144
chr205839427658394357E0749825
chr205839487558395205E07410424
chr205839534058396182E07410889
chr205839656858396632E07412117
chr205839913358399214E07414682
chr205839932258399377E07414871
chr205839947358399731E07415022
chr205839973758399939E07415286
chr205840014558400195E07415694
chr205840025058400340E07415799
chr205840039358400523E07415942
chr205840119258402169E07416741
chr205840222158402514E07417770
chr205840571658405934E07421265
chr205840599458406552E07421543
chr205840655858407506E07422107
chr205840795258408048E07423501
chr205841005958410534E07425608
chr205841483958416074E07430388
chr205835905858359181E081-25270
chr205835950058359567E081-24884
chr205835958158359635E081-24816
chr205838535858385418E081907
chr205838543958385701E081988
chr205838574158385952E0811290
chr205838634858386432E0811897
chr205838692958387022E0812478
chr205838707858387119E0812627
chr205838712758387245E0812676
chr205838748958387652E0813038
chr205838772058387774E0813269
chr205838791058387975E0813459
chr205838832458388374E0813873
chr205838925558389321E0814804
chr205839227958392351E0817828
chr205839252058392578E0818069
chr205839259558392664E0818144
chr205839427658394357E0819825
chr205839487558395205E08110424
chr205839534058396182E08110889
chr205839656858396632E08112117
chr205839787458397924E08113423
chr205839846058399074E08114009
chr205839913358399214E08114682
chr205839932258399377E08114871
chr205839947358399731E08115022
chr205839973758399939E08115286
chr205840014558400195E08115694
chr205840025058400340E08115799
chr205840039358400523E08115942
chr205840077058400846E08116319
chr205840095158401110E08116500
chr205840405458405274E08119603
chr205841005958410534E08125608
chr205841055858411316E08126107
chr205838535858385418E082907
chr205838543958385701E082988
chr205838574158385952E0821290
chr205838634858386432E0821897
chr205838707858387119E0822627
chr205838712758387245E0822676
chr205838748958387652E0823038
chr205838772058387774E0823269
chr205838791058387975E0823459
chr205839227958392351E0827828
chr205839252058392578E0828069
chr205839259558392664E0828144
chr205839534058396182E08210889
chr205839656858396632E08212117
chr205839787458397924E08213423
chr205839846058399074E08214009
chr205839913358399214E08214682
chr205839932258399377E08214871
chr205839947358399731E08215022
chr205839973758399939E08215286
chr205840014558400195E08215694
chr205840025058400340E08215799
chr205840039358400523E08215942
chr205840405458405274E08219603
chr205840571658405934E08221265










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr205841153658412586E06727085
chr205841279758412991E06728346
chr205841153658412586E06827085
chr205841279758412991E06828346
chr205841153658412586E06927085
chr205841279758412991E06928346
chr205841153658412586E07027085
chr205841153658412586E07227085
chr205841279758412991E07228346
chr205841153658412586E07327085
chr205841279758412991E07328346
chr205841153658412586E07427085
chr205841279758412991E07428346
chr205841153658412586E08227085