rs4663819

Homo sapiens
G>A
UBE2F : Intron Variant
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0114 (3433/29968,GnomAD)
G==0114 (3340/29118,TOPMED)
G==0137 (684/5008,1000G)
G==0177 (682/3854,ALSPAC)
G==0190 (705/3708,TWINSUK)
chr2:237988732 (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.237988732G>A
GRCh37.p13 chr 2NC_000002.11:g.238897374G>A

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
1000GenomesAfricanSub1322G=0.044A=0.956
1000GenomesAmericanSub694G=0.180A=0.820
1000GenomesEast AsianSub1008G=0.030A=0.970
1000GenomesEuropeSub1006G=0.164A=0.836
1000GenomesGlobalStudy-wide5008G=0.137A=0.863
1000GenomesSouth AsianSub978G=0.310A=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.177A=0.823
The Genome Aggregation DatabaseAfricanSub8724G=0.063A=0.937
The Genome Aggregation DatabaseAmericanSub838G=0.170A=0.830
The Genome Aggregation DatabaseEast AsianSub1622G=0.030A=0.970
The Genome Aggregation DatabaseEuropeSub18482G=0.143A=0.856
The Genome Aggregation DatabaseGlobalStudy-wide29968G=0.114A=0.885
The Genome Aggregation DatabaseOtherSub302G=0.110A=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.114A=0.885
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.190A=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
rs46638190.000138alcohol consumption23743675

eQTL of rs4663819 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238897374SCLYENSG00000132330.12G>A7.8532e-10-72156Cerebellum
Chr2:238897374SCLYENSG00000132330.12G>A1.0714e-8-72156Cortex
Chr2:238897374SCLYENSG00000132330.12G>A2.0850e-8-72156Cerebellar_Hemisphere
Chr2:238897374SCLYENSG00000132330.12G>A7.2091e-4-72156Anterior_cingulate_cortex

meQTL of rs4663819 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 )
chr2238877816238878038E067-19336
chr2238878398238878539E067-18835
chr2238878551238878601E067-18773
chr2238878666238878738E067-18636
chr2238879158238879263E067-18111
chr2238886584238886634E067-10740
chr2238886907238887414E067-9960
chr2238888018238888228E067-9146
chr2238888415238888465E067-8909
chr2238888921238888998E067-8376
chr2238889558238889737E067-7637
chr2238889976238890179E067-7195
chr2238893121238893238E067-4136
chr2238904560238904874E0677186
chr2238904955238905113E0677581
chr2238917607238917771E06720233
chr2238931681238931768E06734307
chr2238851806238851846E068-45528
chr2238851954238852295E068-45079
chr2238877816238878038E068-19336
chr2238878398238878539E068-18835
chr2238878551238878601E068-18773
chr2238878666238878738E068-18636
chr2238879158238879263E068-18111
chr2238886584238886634E068-10740
chr2238886907238887414E068-9960
chr2238888018238888228E068-9146
chr2238888415238888465E068-8909
chr2238888921238888998E068-8376
chr2238889558238889737E068-7637
chr2238889976238890179E068-7195
chr2238892164238892276E068-5098
chr2238893121238893238E068-4136
chr2238877816238878038E069-19336
chr2238878398238878539E069-18835
chr2238878551238878601E069-18773
chr2238878666238878738E069-18636
chr2238886584238886634E069-10740
chr2238886907238887414E069-9960
chr2238888018238888228E069-9146
chr2238888921238888998E069-8376
chr2238889558238889737E069-7637
chr2238893121238893238E069-4136
chr2238904955238905113E0697581
chr2238918301238918438E06920927
chr2238919370238919610E06921996
chr2238919757238919867E06922383
chr2238928552238929028E06931178
chr2238886584238886634E070-10740
chr2238886907238887414E070-9960
chr2238888921238888998E070-8376
chr2238851806238851846E071-45528
chr2238851954238852295E071-45079
chr2238878666238878738E071-18636
chr2238879158238879263E071-18111
chr2238886011238886062E071-11312
chr2238886584238886634E071-10740
chr2238886907238887414E071-9960
chr2238888018238888228E071-9146
chr2238888415238888465E071-8909
chr2238888921238888998E071-8376
chr2238893121238893238E071-4136
chr2238917607238917771E07120233
chr2238917904238917968E07120530
chr2238918301238918438E07120927
chr2238919370238919610E07121996
chr2238919757238919867E07122383
chr2238867147238867197E072-30177
chr2238878551238878601E072-18773
chr2238886011238886062E072-11312
chr2238886584238886634E072-10740
chr2238886907238887414E072-9960
chr2238888018238888228E072-9146
chr2238888415238888465E072-8909
chr2238888921238888998E072-8376
chr2238889558238889737E072-7637
chr2238893121238893238E072-4136
chr2238917607238917771E07220233
chr2238878551238878601E073-18773
chr2238878666238878738E073-18636
chr2238886011238886062E073-11312
chr2238886584238886634E073-10740
chr2238886907238887414E073-9960
chr2238888018238888228E073-9146
chr2238888415238888465E073-8909
chr2238888921238888998E073-8376
chr2238889558238889737E073-7637
chr2238892164238892276E073-5098
chr2238893121238893238E073-4136
chr2238851954238852295E074-45079
chr2238878551238878601E074-18773
chr2238878666238878738E074-18636
chr2238879158238879263E074-18111
chr2238880434238880549E074-16825
chr2238880894238880969E074-16405
chr2238884641238884818E074-12556
chr2238886011238886062E074-11312
chr2238886584238886634E074-10740
chr2238886907238887414E074-9960
chr2238888921238888998E074-8376
chr2238889558238889737E074-7637
chr2238889976238890179E074-7195
chr2238893121238893238E074-4136
chr2238904560238904874E0747186
chr2238904955238905113E0747581
chr2238915164238915422E07417790
chr2238917607238917771E07420233
chr2238917904238917968E07420530
chr2238918301238918438E07420927
chr2238919370238919610E07421996
chr2238919757238919867E07422383
chr2238931681238931768E07434307
chr2238877816238878038E081-19336
chr2238878398238878539E081-18835
chr2238886907238887414E082-9960










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E067-21270
chr2238876111238876550E067-20824
chr2238864688238864740E068-32634
chr2238864741238864973E068-32401
chr2238865051238865134E068-32240
chr2238865144238865248E068-32126
chr2238874796238876104E068-21270
chr2238876111238876550E068-20824
chr2238865051238865134E069-32240
chr2238865144238865248E069-32126
chr2238874796238876104E069-21270
chr2238876111238876550E069-20824
chr2238864741238864973E070-32401
chr2238874796238876104E070-21270
chr2238876111238876550E070-20824
chr2238874796238876104E071-21270
chr2238876111238876550E071-20824
chr2238874796238876104E072-21270
chr2238876111238876550E072-20824
chr2238865051238865134E073-32240
chr2238865144238865248E073-32126
chr2238874796238876104E073-21270
chr2238876111238876550E073-20824
chr2238874796238876104E074-21270
chr2238876111238876550E074-20824
chr2238876111238876550E081-20824
chr2238864688238864740E082-32634
chr2238864741238864973E082-32401
chr2238865051238865134E082-32240
chr2238865144238865248E082-32126
chr2238874796238876104E082-21270
chr2238876111238876550E082-20824