rs2185691

Homo sapiens
T>C
PFKFB3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0095 (2835/29750,GnomAD)
C=0119 (3478/29118,TOPMED)
C=0152 (762/5008,1000G)
C=0060 (230/3854,ALSPAC)
C=0056 (207/3708,TWINSUK)
chr10:6250644 (GRCh38.p7) (10p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
206 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.6250644T>C
GRCh37.p13 chr 10NC_000010.10:g.6292607T>C

Gene: PFKFB3, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PFKFB3 transcript variant 2NM_001145443.2:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 3NM_001282630.2:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 4NM_001314063.1:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 5NM_001323016.1:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 6NM_001323017.1:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 1NM_004566.3:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant 7NR_136554.1:n.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant X1XM_017016325.1:c.N/AIntron Variant
PFKFB3 transcript variant X2XM_017016326.1:c.N/AIntron Variant
PFKFB3 transcript variant X3XM_017016327.1:c.N/AIntron Variant
PFKFB3 transcript variant X4XM_017016328.1:c.N/AIntron Variant
PFKFB3 transcript variant X6XM_005252464.1:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant X7XM_011519493.1:c.N/AGenic Downstream Transcript Variant
PFKFB3 transcript variant X5XM_017016329.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.838C=0.162
1000GenomesAmericanSub694T=0.810C=0.190
1000GenomesEast AsianSub1008T=0.871C=0.129
1000GenomesEuropeSub1006T=0.944C=0.056
1000GenomesGlobalStudy-wide5008T=0.848C=0.152
1000GenomesSouth AsianSub978T=0.760C=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.940C=0.060
The Genome Aggregation DatabaseAfricanSub8656T=0.820C=0.180
The Genome Aggregation DatabaseAmericanSub832T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1616T=0.890C=0.110
The Genome Aggregation DatabaseEuropeSub18344T=0.948C=0.051
The Genome Aggregation DatabaseGlobalStudy-wide29750T=0.904C=0.095
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.880C=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.944C=0.056
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
rs21856910.00013alcohol dependence20201924

eQTL of rs2185691 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 rs2185691 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 )
chr1062496516249992E067-42615
chr1062501406250190E067-42417
chr1062504786250541E067-42066
chr1062506946250990E067-41617
chr1062510436251377E067-41230
chr1062530506253173E067-39434
chr1062532116253396E067-39211
chr1062533986253550E067-39057
chr1062887576288832E067-3775
chr1062889116289701E067-2906
chr1062898856289956E067-2651
chr1062899966290125E067-2482
chr1063090276309658E06716420
chr1063099796310218E06717372
chr1063121616312845E06719554
chr1063129206313219E06720313
chr1063133636313452E06720756
chr1062501406250190E068-42417
chr1062504786250541E068-42066
chr1062506946250990E068-41617
chr1062510436251377E068-41230
chr1062530506253173E068-39434
chr1062550276255181E068-37426
chr1062553456255435E068-37172
chr1062555276255610E068-36997
chr1062556906255744E068-36863
chr1062559426256185E068-36422
chr1062678236267963E068-24644
chr1062683296268442E068-24165
chr1062686146268664E068-23943
chr1062691096269177E068-23430
chr1062693546269624E068-22983
chr1062698276269877E068-22730
chr1062699006269950E068-22657
chr1062699796270028E068-22579
chr1062737766273848E068-18759
chr1062741996274257E068-18350
chr1062743806274615E068-17992
chr1062746316274691E068-17916
chr1062747546275306E068-17301
chr1062753956275454E068-17153
chr1062887576288832E068-3775
chr1062889116289701E068-2906
chr1062898856289956E068-2651
chr1062899966290125E068-2482
chr1062901626290202E068-2405
chr1063090276309658E06816420
chr1063099796310218E06817372
chr1063129206313219E06820313
chr1063133636313452E06820756
chr1063169666317709E06824359
chr1063223526322503E06829745
chr1063331156334035E06840508
chr1063389236339224E06846316
chr1063393866339465E06846779
chr1063395496339635E06846942
chr1063397166339786E06847109
chr1063397946340445E06847187
chr1063407616340811E06848154
chr1063410696341142E06848462
chr1062495216249642E069-42965
chr1062496516249992E069-42615
chr1062501406250190E069-42417
chr1062504786250541E069-42066
chr1062532116253396E069-39211
chr1062533986253550E069-39057
chr1062535816254453E069-38154
chr1062887576288832E069-3775
chr1062889116289701E069-2906
chr1062898856289956E069-2651
chr1062899966290125E069-2482
chr1062901626290202E069-2405
chr1063081566308225E06915549
chr1063090276309658E06916420
chr1063178166318614E06925209
chr1063223526322503E06929745
chr1063225396322656E06929932
chr1063331156334035E06940508
chr1062506946250990E070-41617
chr1062510436251377E070-41230
chr1062532116253396E070-39211
chr1062533986253550E070-39057
chr1062535816254453E070-38154
chr1062889116289701E070-2906
chr1063169666317709E07024359
chr1063178166318614E07025209
chr1062495216249642E071-42965
chr1062496516249992E071-42615
chr1062501406250190E071-42417
chr1062504786250541E071-42066
chr1062506946250990E071-41617
chr1062510436251377E071-41230
chr1062550276255181E071-37426
chr1062553456255435E071-37172
chr1062555276255610E071-36997
chr1062556906255744E071-36863
chr1062559426256185E071-36422
chr1062567756256829E071-35778
chr1062737766273848E071-18759
chr1062741996274257E071-18350
chr1062743806274615E071-17992
chr1062746316274691E071-17916
chr1062747546275306E071-17301
chr1062753956275454E071-17153
chr1062887576288832E071-3775
chr1062889116289701E071-2906
chr1062898856289956E071-2651
chr1062899966290125E071-2482
chr1062901626290202E071-2405
chr1063099796310218E07117372
chr1063121616312845E07119554
chr1063129206313219E07120313
chr1063133636313452E07120756
chr1063136326314036E07121025
chr1063140906314228E07121483
chr1063178166318614E07125209
chr1063223526322503E07129745
chr1063225396322656E07129932
chr1063393866339465E07146779
chr1063395496339635E07146942
chr1063397166339786E07147109
chr1063397946340445E07147187
chr1063407616340811E07148154
chr1062495216249642E072-42965
chr1062496516249992E072-42615
chr1062501406250190E072-42417
chr1062504786250541E072-42066
chr1062506946250990E072-41617
chr1062510436251377E072-41230
chr1062530506253173E072-39434
chr1062532116253396E072-39211
chr1062533986253550E072-39057
chr1062535816254453E072-38154
chr1062550276255181E072-37426
chr1062746316274691E072-17916
chr1062747546275306E072-17301
chr1062780296278098E072-14509
chr1062781826278246E072-14361
chr1062783006278705E072-13902
chr1062887576288832E072-3775
chr1062889116289701E072-2906
chr1062898856289956E072-2651
chr1062899966290125E072-2482
chr1062901626290202E072-2405
chr1063090276309658E07216420
chr1063129206313219E07220313
chr1063133636313452E07220756
chr1063140906314228E07221483
chr1063142456314299E07221638
chr1063169666317709E07224359
chr1063178166318614E07225209
chr1062506946250990E073-41617
chr1062510436251377E073-41230
chr1062535816254453E073-38154
chr1062887576288832E073-3775
chr1062889116289701E073-2906
chr1062898856289956E073-2651
chr1062899966290125E073-2482
chr1062901626290202E073-2405
chr1063169666317709E07324359
chr1063178166318614E07325209
chr1063389236339224E07346316
chr1063393866339465E07346779
chr1062501406250190E074-42417
chr1062504786250541E074-42066
chr1062506946250990E074-41617
chr1062510436251377E074-41230
chr1062518136251920E074-40687
chr1062530506253173E074-39434
chr1062532116253396E074-39211
chr1062550276255181E074-37426
chr1062553456255435E074-37172
chr1062555276255610E074-36997
chr1062556906255744E074-36863
chr1062559426256185E074-36422
chr1062567756256829E074-35778
chr1062878276288087E074-4520
chr1062887576288832E074-3775
chr1062889116289701E074-2906
chr1062898856289956E074-2651
chr1062899966290125E074-2482
chr1062901626290202E074-2405
chr1063099796310218E07417372
chr1063121616312845E07419554
chr1063129206313219E07420313
chr1063133636313452E07420756
chr1063136326314036E07421025
chr1063140906314228E07421483
chr1063142456314299E07421638
chr1063397946340445E07447187
chr1063407616340811E07448154
chr1063410696341142E07448462
chr1062504786250541E081-42066
chr1062506946250990E081-41617
chr1062510436251377E081-41230
chr1062530506253173E081-39434
chr1062532116253396E081-39211
chr1062533986253550E081-39057
chr1062535816254453E081-38154
chr1063121616312845E08119554
chr1063129206313219E08120313
chr1063133636313452E08120756
chr1062504786250541E082-42066
chr1062506946250990E082-41617
chr1062530506253173E082-39434
chr1063129206313219E08220313










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1062472396247317E068-45290
chr1062472396247317E070-45290
chr1062472396247317E071-45290
chr1062472396247317E072-45290
chr1062472396247317E073-45290
chr1062472396247317E074-45290
chr1062472396247317E081-45290
chr1062472396247317E082-45290