rs2306311

Homo sapiens
C>T
SNORD142 : Non Coding Transcript Variant
PFKP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0264 (7925/29960,GnomAD)
T=0243 (7090/29118,TOPMED)
T=0247 (1237/5008,1000G)
T=0330 (1273/3854,ALSPAC)
T=0316 (1172/3708,TWINSUK)
chr10:3134197 (GRCh38.p7) (10p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
164 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.3134197C>T
GRCh37.p13 chr 10NC_000010.10:g.3176389C>T

Gene: PFKP, phosphofructokinase, platelet(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PFKP transcript variant 2NM_001242339.1:c.N/AIntron Variant
PFKP transcript variant 3NM_001323067.1:c.N/AIntron Variant
PFKP transcript variant 4NM_001323068.1:c.N/AIntron Variant
PFKP transcript variant 5NM_001323069.1:c.N/AIntron Variant
PFKP transcript variant 6NM_001323070.1:c.N/AIntron Variant
PFKP transcript variant 7NM_001323071.1:c.N/AIntron Variant
PFKP transcript variant 8NM_001323072.1:c.N/AIntron Variant
PFKP transcript variant 9NM_001323073.1:c.N/AIntron Variant
PFKP transcript variant 10NM_001323074.1:c.N/AIntron Variant
PFKP transcript variant 1NM_002627.4:c.N/AIntron Variant
PFKP transcript variant X1XM_005252465.4:c.N/AIntron Variant
PFKP transcript variant X3XM_005252466.4:c.N/AIntron Variant
PFKP transcript variant X4XM_005252467.2:c.N/AIntron Variant
PFKP transcript variant X2XM_006717449.1:c.N/AIntron Variant

Gene: SNORD142, small nucleolar RNA, C/D box 142(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SNORD142 transcriptNR_132758.2:n.94C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.880T=0.120
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.645T=0.355
1000GenomesEuropeSub1006C=0.707T=0.293
1000GenomesGlobalStudy-wide5008C=0.753T=0.247
1000GenomesSouth AsianSub978C=0.750T=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.670T=0.330
The Genome Aggregation DatabaseAfricanSub8726C=0.852T=0.148
The Genome Aggregation DatabaseAmericanSub838C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1614C=0.623T=0.377
The Genome Aggregation DatabaseEuropeSub18480C=0.693T=0.306
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.735T=0.264
The Genome Aggregation DatabaseOtherSub302C=0.710T=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.756T=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.684T=0.316
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
rs23063110.000473alcohol dependence21314694

eQTL of rs2306311 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 rs2306311 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 )
chr1031474573147664E067-28725
chr1031477263147776E067-28613
chr1031492113150249E067-26140
chr1031532523153482E067-22907
chr1031784193179988E0672030
chr1032127073212770E06736318
chr1032128423213009E06736453
chr1032132073213309E06736818
chr1032134373213496E06737048
chr1032135583213634E06737169
chr1031330733133992E068-42397
chr1031366583138842E068-37547
chr1031465003146565E068-29824
chr1031465803146634E068-29755
chr1031466943147205E068-29184
chr1031472163147309E068-29080
chr1031473113147355E068-29034
chr1031474573147664E068-28725
chr1031477263147776E068-28613
chr1031492113150249E068-26140
chr1031503293150511E068-25878
chr1031505753150661E068-25728
chr1031507733150988E068-25401
chr1031532523153482E068-22907
chr1031535043153864E068-22525
chr1031689353170095E068-6294
chr1031784193179988E0682030
chr1031800473180377E0683658
chr1031804003180583E0684011
chr1031826643182778E0686275
chr1031831503183219E0686761
chr1031833223183372E0686933
chr1031834823183537E0687093
chr1032128423213009E06836453
chr1032134373213496E06837048
chr1032135583213634E06837169
chr1031325343132939E069-43450
chr1031330733133992E069-42397
chr1031465803146634E069-29755
chr1031466943147205E069-29184
chr1031472163147309E069-29080
chr1031473113147355E069-29034
chr1031474573147664E069-28725
chr1031477263147776E069-28613
chr1031478633147931E069-28458
chr1031479463147996E069-28393
chr1031480803148195E069-28194
chr1031505753150661E069-25728
chr1031784193179988E0692030
chr1031800473180377E0693658
chr1032113273212415E06934938
chr1032135583213634E06937169
chr1031330733133992E070-42397
chr1031449573145577E070-30812
chr1031449573145577E071-30812
chr1031460853146135E071-30254
chr1031461863146278E071-30111
chr1031465003146565E071-29824
chr1031465803146634E071-29755
chr1031466943147205E071-29184
chr1031472163147309E071-29080
chr1031473113147355E071-29034
chr1031474573147664E071-28725
chr1031477263147776E071-28613
chr1031478633147931E071-28458
chr1031479463147996E071-28393
chr1031480803148195E071-28194
chr1031492113150249E071-26140
chr1031503293150511E071-25878
chr1031505753150661E071-25728
chr1031507733150988E071-25401
chr1031512263151283E071-25106
chr1031513873151739E071-24650
chr1031544063154559E071-21830
chr1031784193179988E0712030
chr1031800473180377E0713658
chr1031804003180583E0714011
chr1032014053201664E07125016
chr1032113273212415E07134938
chr1032127073212770E07136318
chr1032128423213009E07136453
chr1032132073213309E07136818
chr1032134373213496E07137048
chr1032135583213634E07137169
chr1031410853141283E072-35106
chr1031465803146634E072-29755
chr1031466943147205E072-29184
chr1031472163147309E072-29080
chr1031473113147355E072-29034
chr1031474573147664E072-28725
chr1031477263147776E072-28613
chr1031478633147931E072-28458
chr1031479463147996E072-28393
chr1031480803148195E072-28194
chr1031482503148365E072-28024
chr1031492113150249E072-26140
chr1031503293150511E072-25878
chr1031505753150661E072-25728
chr1031513873151739E072-24650
chr1031517543151895E072-24494
chr1031784193179988E0722030
chr1031800473180377E0723658
chr1031804003180583E0724011
chr1031826643182778E0726275
chr1031831503183219E0726761
chr1031833223183372E0726933
chr1032113273212415E07234938
chr1032128423213009E07236453
chr1032132073213309E07236818
chr1032134373213496E07237048
chr1031460853146135E073-30254
chr1031461863146278E073-30111
chr1031465003146565E073-29824
chr1031465803146634E073-29755
chr1031466943147205E073-29184
chr1031472163147309E073-29080
chr1031473113147355E073-29034
chr1031474573147664E073-28725
chr1031477263147776E073-28613
chr1031507733150988E073-25401
chr1031512263151283E073-25106
chr1031513873151739E073-24650
chr1031532523153482E073-22907
chr1031535043153864E073-22525
chr1031784193179988E0732030
chr1031800473180377E0733658
chr1031818573181922E0735468
chr1031819333182029E0735544
chr1031822463182300E0735857
chr1031825353182589E0736146
chr1031826643182778E0736275
chr1031831503183219E0736761
chr1031833223183372E0736933
chr1031834823183537E0737093
chr1031836043183661E0737215
chr1031836743183962E0737285
chr1031840123184119E0737623
chr1031843183184582E0737929
chr1031460853146135E074-30254
chr1031461863146278E074-30111
chr1031465003146565E074-29824
chr1031465803146634E074-29755
chr1031474573147664E074-28725
chr1031477263147776E074-28613
chr1031478633147931E074-28458
chr1031479463147996E074-28393
chr1031480803148195E074-28194
chr1031503293150511E074-25878
chr1031505753150661E074-25728
chr1031507733150988E074-25401
chr1031784193179988E0742030
chr1031800473180377E0743658
chr1031831503183219E0746761
chr1031833223183372E0746933
chr1031834823183537E0747093
chr1032113273212415E07434938
chr1032134373213496E07437048
chr1032135583213634E07437169
chr1031449573145577E081-30812
chr1031460853146135E081-30254
chr1032128423213009E08136453
chr1032132073213309E08136818
chr1032134373213496E08137048
chr1032135583213634E08137169









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1032139853216770E06737596
chr1032139853216770E06837596
chr1032139853216770E06937596
chr1032139853216770E07037596
chr1032139853216770E07137596
chr1032139853216770E07237596
chr1032139853216770E07337596
chr1032139853216770E07437596
chr1032139853216770E08237596