rs2121472

Homo sapiens
C>T
UBE2F : Intron Variant
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0122 (3666/29976,GnomAD)
C==0125 (3647/29118,TOPMED)
C==0144 (723/5008,1000G)
C==0176 (679/3854,ALSPAC)
C==0190 (706/3708,TWINSUK)
chr2:237976195 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
119 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.237976195C>T
GRCh37.p13 chr 2NC_000002.11:g.238884837C>T

Gene: UBE2F, ubiquitin conjugating enzyme E2 F (putative)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UBE2F transcript variant 2NM_001278305.1:c.N/AIntron Variant
UBE2F transcript variant 3NM_001278306.1:c.N/AIntron Variant
UBE2F transcript variant 4NM_001278307.1:c.N/AIntron Variant
UBE2F transcript variant 5NM_001278308.1:c.N/AIntron Variant
UBE2F transcript variant 1NM_080678.2:c.N/AIntron Variant
UBE2F transcript variant 6NR_103498.1:n.N/AIntron Variant
UBE2F transcript variant 7NR_103499.1:n.N/AIntron Variant
UBE2F transcript variant 8NR_103500.1:n.N/AIntron Variant

Gene: UBE2F-SCLY, UBE2F-SCLY readthrough (NMD candidate)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UBE2F-SCLY transcriptNR_037904.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.070T=0.930
1000GenomesAmericanSub694C=0.180T=0.820
1000GenomesEast AsianSub1008C=0.030T=0.970
1000GenomesEuropeSub1006C=0.164T=0.836
1000GenomesGlobalStudy-wide5008C=0.144T=0.856
1000GenomesSouth AsianSub978C=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.176T=0.824
The Genome Aggregation DatabaseAfricanSub8728C=0.089T=0.911
The Genome Aggregation DatabaseAmericanSub838C=0.170T=0.830
The Genome Aggregation DatabaseEast AsianSub1622C=0.030T=0.970
The Genome Aggregation DatabaseEuropeSub18486C=0.144T=0.855
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.122T=0.877
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.125T=0.874
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.190T=0.810
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
rs21214720.000141alcohol consumption23743675

eQTL of rs2121472 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238884837SCLYENSG00000132330.12C>T7.8532e-10-84693Cerebellum
Chr2:238884837SCLYENSG00000132330.12C>T1.0714e-8-84693Cortex
Chr2:238884837SCLYENSG00000132330.12C>T2.0850e-8-84693Cerebellar_Hemisphere
Chr2:238884837SCLYENSG00000132330.12C>T1.4177e-3-84693Caudate_basal_ganglia
Chr2:238884837SCLYENSG00000132330.12C>T2.3006e-3-84693Substantia_nigra
Chr2:238884837SCLYENSG00000132330.12C>T7.2091e-4-84693Anterior_cingulate_cortex

meQTL of rs2121472 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06670119019215933.7259e-15

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 )
chr2238877816238878038E067-6799
chr2238878398238878539E067-6298
chr2238878551238878601E067-6236
chr2238878666238878738E067-6099
chr2238879158238879263E067-5574
chr2238886584238886634E0671747
chr2238886907238887414E0672070
chr2238888018238888228E0673181
chr2238888415238888465E0673578
chr2238888921238888998E0674084
chr2238889558238889737E0674721
chr2238889976238890179E0675139
chr2238893121238893238E0678284
chr2238904560238904874E06719723
chr2238904955238905113E06720118
chr2238917607238917771E06732770
chr2238931681238931768E06746844
chr2238851806238851846E068-32991
chr2238851954238852295E068-32542
chr2238877816238878038E068-6799
chr2238878398238878539E068-6298
chr2238878551238878601E068-6236
chr2238878666238878738E068-6099
chr2238879158238879263E068-5574
chr2238886584238886634E0681747
chr2238886907238887414E0682070
chr2238888018238888228E0683181
chr2238888415238888465E0683578
chr2238888921238888998E0684084
chr2238889558238889737E0684721
chr2238889976238890179E0685139
chr2238892164238892276E0687327
chr2238893121238893238E0688284
chr2238840070238840408E069-44429
chr2238877816238878038E069-6799
chr2238878398238878539E069-6298
chr2238878551238878601E069-6236
chr2238878666238878738E069-6099
chr2238886584238886634E0691747
chr2238886907238887414E0692070
chr2238888018238888228E0693181
chr2238888921238888998E0694084
chr2238889558238889737E0694721
chr2238893121238893238E0698284
chr2238904955238905113E06920118
chr2238918301238918438E06933464
chr2238919370238919610E06934533
chr2238919757238919867E06934920
chr2238928552238929028E06943715
chr2238886584238886634E0701747
chr2238886907238887414E0702070
chr2238888921238888998E0704084
chr2238840070238840408E071-44429
chr2238851806238851846E071-32991
chr2238851954238852295E071-32542
chr2238878666238878738E071-6099
chr2238879158238879263E071-5574
chr2238886011238886062E0711174
chr2238886584238886634E0711747
chr2238886907238887414E0712070
chr2238888018238888228E0713181
chr2238888415238888465E0713578
chr2238888921238888998E0714084
chr2238893121238893238E0718284
chr2238917607238917771E07132770
chr2238917904238917968E07133067
chr2238918301238918438E07133464
chr2238919370238919610E07134533
chr2238919757238919867E07134920
chr2238867147238867197E072-17640
chr2238878551238878601E072-6236
chr2238886011238886062E0721174
chr2238886584238886634E0721747
chr2238886907238887414E0722070
chr2238888018238888228E0723181
chr2238888415238888465E0723578
chr2238888921238888998E0724084
chr2238889558238889737E0724721
chr2238893121238893238E0728284
chr2238917607238917771E07232770
chr2238840070238840408E073-44429
chr2238878551238878601E073-6236
chr2238878666238878738E073-6099
chr2238886011238886062E0731174
chr2238886584238886634E0731747
chr2238886907238887414E0732070
chr2238888018238888228E0733181
chr2238888415238888465E0733578
chr2238888921238888998E0734084
chr2238889558238889737E0734721
chr2238892164238892276E0737327
chr2238893121238893238E0738284
chr2238840070238840408E074-44429
chr2238851954238852295E074-32542
chr2238878551238878601E074-6236
chr2238878666238878738E074-6099
chr2238879158238879263E074-5574
chr2238880434238880549E074-4288
chr2238880894238880969E074-3868
chr2238884641238884818E074-19
chr2238886011238886062E0741174
chr2238886584238886634E0741747
chr2238886907238887414E0742070
chr2238888921238888998E0744084
chr2238889558238889737E0744721
chr2238889976238890179E0745139
chr2238893121238893238E0748284
chr2238904560238904874E07419723
chr2238904955238905113E07420118
chr2238915164238915422E07430327
chr2238917607238917771E07432770
chr2238917904238917968E07433067
chr2238918301238918438E07433464
chr2238919370238919610E07434533
chr2238919757238919867E07434920
chr2238931681238931768E07446844
chr2238877816238878038E081-6799
chr2238878398238878539E081-6298
chr2238886907238887414E0822070










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E067-8733
chr2238876111238876550E067-8287
chr2238864688238864740E068-20097
chr2238864741238864973E068-19864
chr2238865051238865134E068-19703
chr2238865144238865248E068-19589
chr2238874796238876104E068-8733
chr2238876111238876550E068-8287
chr2238865051238865134E069-19703
chr2238865144238865248E069-19589
chr2238874796238876104E069-8733
chr2238876111238876550E069-8287
chr2238864741238864973E070-19864
chr2238874796238876104E070-8733
chr2238876111238876550E070-8287
chr2238874796238876104E071-8733
chr2238876111238876550E071-8287
chr2238874796238876104E072-8733
chr2238876111238876550E072-8287
chr2238865051238865134E073-19703
chr2238865144238865248E073-19589
chr2238874796238876104E073-8733
chr2238876111238876550E073-8287
chr2238874796238876104E074-8733
chr2238876111238876550E074-8287
chr2238876111238876550E081-8287
chr2238864688238864740E082-20097
chr2238864741238864973E082-19864
chr2238865051238865134E082-19703
chr2238865144238865248E082-19589
chr2238874796238876104E082-8733
chr2238876111238876550E082-8287