rs10187736

Homo sapiens
C>T
UBE2F : Intron Variant
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0127 (3815/29946,GnomAD)
C==0133 (3897/29118,TOPMED)
C==0151 (755/5008,1000G)
C==0177 (682/3854,ALSPAC)
C==0190 (705/3708,TWINSUK)
chr2:237978933 (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.237978933C>T
GRCh37.p13 chr 2NC_000002.11:g.238887575C>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=0.095T=0.905
1000GenomesAmericanSub694C=0.180T=0.820
1000GenomesEast AsianSub1008C=0.030T=0.970
1000GenomesEuropeSub1006C=0.164T=0.836
1000GenomesGlobalStudy-wide5008C=0.151T=0.849
1000GenomesSouth AsianSub978C=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.177T=0.823
The Genome Aggregation DatabaseAfricanSub8718C=0.107T=0.893
The Genome Aggregation DatabaseAmericanSub838C=0.170T=0.830
The Genome Aggregation DatabaseEast AsianSub1620C=0.030T=0.970
The Genome Aggregation DatabaseEuropeSub18468C=0.143T=0.856
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.127T=0.872
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.133T=0.866
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
rs101877360.000141alcohol consumption23743675

eQTL of rs10187736 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238887575SCLYENSG00000132330.12C>T7.8532e-10-81955Cerebellum
Chr2:238887575SCLYENSG00000132330.12C>T1.0714e-8-81955Cortex
Chr2:238887575SCLYENSG00000132330.12C>T2.0850e-8-81955Cerebellar_Hemisphere
Chr2:238887575SCLYENSG00000132330.12C>T1.4177e-3-81955Caudate_basal_ganglia
Chr2:238887575SCLYENSG00000132330.12C>T2.3006e-3-81955Substantia_nigra
Chr2:238887575SCLYENSG00000132330.12C>T7.2091e-4-81955Anterior_cingulate_cortex

meQTL of rs10187736 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06462263479058882.4442e-14

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 )
chr2238877816238878038E067-9537
chr2238878398238878539E067-9036
chr2238878551238878601E067-8974
chr2238878666238878738E067-8837
chr2238879158238879263E067-8312
chr2238886584238886634E067-941
chr2238886907238887414E067-161
chr2238888018238888228E067443
chr2238888415238888465E067840
chr2238888921238888998E0671346
chr2238889558238889737E0671983
chr2238889976238890179E0672401
chr2238893121238893238E0675546
chr2238904560238904874E06716985
chr2238904955238905113E06717380
chr2238917607238917771E06730032
chr2238931681238931768E06744106
chr2238851806238851846E068-35729
chr2238851954238852295E068-35280
chr2238877816238878038E068-9537
chr2238878398238878539E068-9036
chr2238878551238878601E068-8974
chr2238878666238878738E068-8837
chr2238879158238879263E068-8312
chr2238886584238886634E068-941
chr2238886907238887414E068-161
chr2238888018238888228E068443
chr2238888415238888465E068840
chr2238888921238888998E0681346
chr2238889558238889737E0681983
chr2238889976238890179E0682401
chr2238892164238892276E0684589
chr2238893121238893238E0685546
chr2238840070238840408E069-47167
chr2238877816238878038E069-9537
chr2238878398238878539E069-9036
chr2238878551238878601E069-8974
chr2238878666238878738E069-8837
chr2238886584238886634E069-941
chr2238886907238887414E069-161
chr2238888018238888228E069443
chr2238888921238888998E0691346
chr2238889558238889737E0691983
chr2238893121238893238E0695546
chr2238904955238905113E06917380
chr2238918301238918438E06930726
chr2238919370238919610E06931795
chr2238919757238919867E06932182
chr2238928552238929028E06940977
chr2238886584238886634E070-941
chr2238886907238887414E070-161
chr2238888921238888998E0701346
chr2238840070238840408E071-47167
chr2238851806238851846E071-35729
chr2238851954238852295E071-35280
chr2238878666238878738E071-8837
chr2238879158238879263E071-8312
chr2238886011238886062E071-1513
chr2238886584238886634E071-941
chr2238886907238887414E071-161
chr2238888018238888228E071443
chr2238888415238888465E071840
chr2238888921238888998E0711346
chr2238893121238893238E0715546
chr2238917607238917771E07130032
chr2238917904238917968E07130329
chr2238918301238918438E07130726
chr2238919370238919610E07131795
chr2238919757238919867E07132182
chr2238867147238867197E072-20378
chr2238878551238878601E072-8974
chr2238886011238886062E072-1513
chr2238886584238886634E072-941
chr2238886907238887414E072-161
chr2238888018238888228E072443
chr2238888415238888465E072840
chr2238888921238888998E0721346
chr2238889558238889737E0721983
chr2238893121238893238E0725546
chr2238917607238917771E07230032
chr2238840070238840408E073-47167
chr2238878551238878601E073-8974
chr2238878666238878738E073-8837
chr2238886011238886062E073-1513
chr2238886584238886634E073-941
chr2238886907238887414E073-161
chr2238888018238888228E073443
chr2238888415238888465E073840
chr2238888921238888998E0731346
chr2238889558238889737E0731983
chr2238892164238892276E0734589
chr2238893121238893238E0735546
chr2238840070238840408E074-47167
chr2238851954238852295E074-35280
chr2238878551238878601E074-8974
chr2238878666238878738E074-8837
chr2238879158238879263E074-8312
chr2238880434238880549E074-7026
chr2238880894238880969E074-6606
chr2238884641238884818E074-2757
chr2238886011238886062E074-1513
chr2238886584238886634E074-941
chr2238886907238887414E074-161
chr2238888921238888998E0741346
chr2238889558238889737E0741983
chr2238889976238890179E0742401
chr2238893121238893238E0745546
chr2238904560238904874E07416985
chr2238904955238905113E07417380
chr2238915164238915422E07427589
chr2238917607238917771E07430032
chr2238917904238917968E07430329
chr2238918301238918438E07430726
chr2238919370238919610E07431795
chr2238919757238919867E07432182
chr2238931681238931768E07444106
chr2238877816238878038E081-9537
chr2238878398238878539E081-9036
chr2238886907238887414E082-161










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E067-11471
chr2238876111238876550E067-11025
chr2238864688238864740E068-22835
chr2238864741238864973E068-22602
chr2238865051238865134E068-22441
chr2238865144238865248E068-22327
chr2238874796238876104E068-11471
chr2238876111238876550E068-11025
chr2238865051238865134E069-22441
chr2238865144238865248E069-22327
chr2238874796238876104E069-11471
chr2238876111238876550E069-11025
chr2238864741238864973E070-22602
chr2238874796238876104E070-11471
chr2238876111238876550E070-11025
chr2238874796238876104E071-11471
chr2238876111238876550E071-11025
chr2238874796238876104E072-11471
chr2238876111238876550E072-11025
chr2238865051238865134E073-22441
chr2238865144238865248E073-22327
chr2238874796238876104E073-11471
chr2238876111238876550E073-11025
chr2238874796238876104E074-11471
chr2238876111238876550E074-11025
chr2238876111238876550E081-11025
chr2238864688238864740E082-22835
chr2238864741238864973E082-22602
chr2238865051238865134E082-22441
chr2238865144238865248E082-22327
chr2238874796238876104E082-11471
chr2238876111238876550E082-11025