rs11692064

Homo sapiens
C>G
UBE2F : Intron Variant
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0112 (3382/29966,GnomAD)
C==0110 (3202/29118,TOPMED)
C==0134 (669/5008,1000G)
C==0177 (681/3854,ALSPAC)
C==0190 (704/3708,TWINSUK)
chr2:237988945 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
115 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.237988945C>G
GRCh37.p13 chr 2NC_000002.11:g.238897587C>G

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=0.033G=0.967
1000GenomesAmericanSub694C=0.180G=0.820
1000GenomesEast AsianSub1008C=0.030G=0.970
1000GenomesEuropeSub1006C=0.164G=0.836
1000GenomesGlobalStudy-wide5008C=0.134G=0.866
1000GenomesSouth AsianSub978C=0.310G=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.177G=0.823
The Genome Aggregation DatabaseAfricanSub8726C=0.056G=0.944
The Genome Aggregation DatabaseAmericanSub838C=0.170G=0.830
The Genome Aggregation DatabaseEast AsianSub1618C=0.030G=0.970
The Genome Aggregation DatabaseEuropeSub18482C=0.144G=0.855
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.112G=0.887
The Genome Aggregation DatabaseOtherSub302C=0.110G=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.110G=0.890
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.190G=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
rs116920640.000141alcohol consumption23743675

eQTL of rs11692064 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238897587SCLYENSG00000132330.12C>G7.8532e-10-71943Cerebellum
Chr2:238897587SCLYENSG00000132330.12C>G1.0714e-8-71943Cortex
Chr2:238897587SCLYENSG00000132330.12C>G2.0850e-8-71943Cerebellar_Hemisphere
Chr2:238897587SCLYENSG00000132330.12C>G1.4177e-3-71943Caudate_basal_ganglia
Chr2:238897587SCLYENSG00000132330.12C>G7.2091e-4-71943Anterior_cingulate_cortex

meQTL of rs11692064 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.0680291539545211.8712e-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 )
chr2238877816238878038E067-19549
chr2238878398238878539E067-19048
chr2238878551238878601E067-18986
chr2238878666238878738E067-18849
chr2238879158238879263E067-18324
chr2238886584238886634E067-10953
chr2238886907238887414E067-10173
chr2238888018238888228E067-9359
chr2238888415238888465E067-9122
chr2238888921238888998E067-8589
chr2238889558238889737E067-7850
chr2238889976238890179E067-7408
chr2238893121238893238E067-4349
chr2238904560238904874E0676973
chr2238904955238905113E0677368
chr2238917607238917771E06720020
chr2238931681238931768E06734094
chr2238851806238851846E068-45741
chr2238851954238852295E068-45292
chr2238877816238878038E068-19549
chr2238878398238878539E068-19048
chr2238878551238878601E068-18986
chr2238878666238878738E068-18849
chr2238879158238879263E068-18324
chr2238886584238886634E068-10953
chr2238886907238887414E068-10173
chr2238888018238888228E068-9359
chr2238888415238888465E068-9122
chr2238888921238888998E068-8589
chr2238889558238889737E068-7850
chr2238889976238890179E068-7408
chr2238892164238892276E068-5311
chr2238893121238893238E068-4349
chr2238877816238878038E069-19549
chr2238878398238878539E069-19048
chr2238878551238878601E069-18986
chr2238878666238878738E069-18849
chr2238886584238886634E069-10953
chr2238886907238887414E069-10173
chr2238888018238888228E069-9359
chr2238888921238888998E069-8589
chr2238889558238889737E069-7850
chr2238893121238893238E069-4349
chr2238904955238905113E0697368
chr2238918301238918438E06920714
chr2238919370238919610E06921783
chr2238919757238919867E06922170
chr2238928552238929028E06930965
chr2238886584238886634E070-10953
chr2238886907238887414E070-10173
chr2238888921238888998E070-8589
chr2238851806238851846E071-45741
chr2238851954238852295E071-45292
chr2238878666238878738E071-18849
chr2238879158238879263E071-18324
chr2238886011238886062E071-11525
chr2238886584238886634E071-10953
chr2238886907238887414E071-10173
chr2238888018238888228E071-9359
chr2238888415238888465E071-9122
chr2238888921238888998E071-8589
chr2238893121238893238E071-4349
chr2238917607238917771E07120020
chr2238917904238917968E07120317
chr2238918301238918438E07120714
chr2238919370238919610E07121783
chr2238919757238919867E07122170
chr2238867147238867197E072-30390
chr2238878551238878601E072-18986
chr2238886011238886062E072-11525
chr2238886584238886634E072-10953
chr2238886907238887414E072-10173
chr2238888018238888228E072-9359
chr2238888415238888465E072-9122
chr2238888921238888998E072-8589
chr2238889558238889737E072-7850
chr2238893121238893238E072-4349
chr2238917607238917771E07220020
chr2238878551238878601E073-18986
chr2238878666238878738E073-18849
chr2238886011238886062E073-11525
chr2238886584238886634E073-10953
chr2238886907238887414E073-10173
chr2238888018238888228E073-9359
chr2238888415238888465E073-9122
chr2238888921238888998E073-8589
chr2238889558238889737E073-7850
chr2238892164238892276E073-5311
chr2238893121238893238E073-4349
chr2238851954238852295E074-45292
chr2238878551238878601E074-18986
chr2238878666238878738E074-18849
chr2238879158238879263E074-18324
chr2238880434238880549E074-17038
chr2238880894238880969E074-16618
chr2238884641238884818E074-12769
chr2238886011238886062E074-11525
chr2238886584238886634E074-10953
chr2238886907238887414E074-10173
chr2238888921238888998E074-8589
chr2238889558238889737E074-7850
chr2238889976238890179E074-7408
chr2238893121238893238E074-4349
chr2238904560238904874E0746973
chr2238904955238905113E0747368
chr2238915164238915422E07417577
chr2238917607238917771E07420020
chr2238917904238917968E07420317
chr2238918301238918438E07420714
chr2238919370238919610E07421783
chr2238919757238919867E07422170
chr2238931681238931768E07434094
chr2238877816238878038E081-19549
chr2238878398238878539E081-19048
chr2238886907238887414E082-10173










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E067-21483
chr2238876111238876550E067-21037
chr2238864688238864740E068-32847
chr2238864741238864973E068-32614
chr2238865051238865134E068-32453
chr2238865144238865248E068-32339
chr2238874796238876104E068-21483
chr2238876111238876550E068-21037
chr2238865051238865134E069-32453
chr2238865144238865248E069-32339
chr2238874796238876104E069-21483
chr2238876111238876550E069-21037
chr2238864741238864973E070-32614
chr2238874796238876104E070-21483
chr2238876111238876550E070-21037
chr2238874796238876104E071-21483
chr2238876111238876550E071-21037
chr2238874796238876104E072-21483
chr2238876111238876550E072-21037
chr2238865051238865134E073-32453
chr2238865144238865248E073-32339
chr2238874796238876104E073-21483
chr2238876111238876550E073-21037
chr2238874796238876104E074-21483
chr2238876111238876550E074-21037
chr2238876111238876550E081-21037
chr2238864688238864740E082-32847
chr2238864741238864973E082-32614
chr2238865051238865134E082-32453
chr2238865144238865248E082-32339
chr2238874796238876104E082-21483
chr2238876111238876550E082-21037