rs821486

Homo sapiens
T>C
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0140 (4200/29862,GnomAD)
T==0147 (4306/29118,TOPMED)
T==0164 (819/5008,1000G)
T==0177 (684/3854,ALSPAC)
T==0191 (708/3708,TWINSUK)
chr2:238058050 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.238058050T>C
GRCh37.p13 chr 2NC_000002.11:g.238966691T>C

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
1000GenomesAfricanSub1322T=0.148C=0.852
1000GenomesAmericanSub694T=0.180C=0.820
1000GenomesEast AsianSub1008T=0.029C=0.971
1000GenomesEuropeSub1006T=0.163C=0.837
1000GenomesGlobalStudy-wide5008T=0.164C=0.836
1000GenomesSouth AsianSub978T=0.310C=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.177C=0.823
The Genome Aggregation DatabaseAfricanSub8686T=0.146C=0.854
The Genome Aggregation DatabaseAmericanSub832T=0.180C=0.820
The Genome Aggregation DatabaseEast AsianSub1618T=0.026C=0.974
The Genome Aggregation DatabaseEuropeSub18424T=0.147C=0.852
The Genome Aggregation DatabaseGlobalStudy-wide29862T=0.140C=0.859
The Genome Aggregation DatabaseOtherSub302T=0.100C=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.147C=0.852
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.191C=0.809
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
rs8214866.91E-05alcohol consumption23743675

eQTL of rs821486 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238966691SCLYENSG00000132330.12T>C7.8532e-10-2839Cerebellum
Chr2:238966691SCLYENSG00000132330.12T>C1.0714e-8-2839Cortex
Chr2:238966691SCLYENSG00000132330.12T>C2.0850e-8-2839Cerebellar_Hemisphere
Chr2:238966691SCLYENSG00000132330.12T>C7.2091e-4-2839Anterior_cingulate_cortex

meQTL of rs821486 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.05953135628673041.2684e-12

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 )
chr2238917607238917771E067-48920
chr2238931681238931768E067-34923
chr2238950342238950447E067-16244
chr2238951505238951913E067-14778
chr2238970839238970899E0674148
chr2238990205238990255E06723514
chr2238990452238990751E06723761
chr2238970839238970899E0684148
chr2238918301238918438E069-48253
chr2238919370238919610E069-47081
chr2238919757238919867E069-46824
chr2238928552238929028E069-37663
chr2238951505238951913E069-14778
chr2238970839238970899E0694148
chr2238989790238989866E06923099
chr2238989941238990032E06923250
chr2238990205238990255E06923514
chr2238970839238970899E0704148
chr2238917607238917771E071-48920
chr2238917904238917968E071-48723
chr2238918301238918438E071-48253
chr2238919370238919610E071-47081
chr2238919757238919867E071-46824
chr2238950342238950447E071-16244
chr2238951505238951913E071-14778
chr2238951961238952020E071-14671
chr2238970839238970899E0714148
chr2238989247238989354E07122556
chr2238989790238989866E07123099
chr2238989941238990032E07123250
chr2238990205238990255E07123514
chr2238990452238990751E07123761
chr2239007116239007529E07140425
chr2238917607238917771E072-48920
chr2238950342238950447E072-16244
chr2238989790238989866E07223099
chr2238989941238990032E07223250
chr2238990205238990255E07223514
chr2238990452238990751E07223761
chr2239014417239014467E07247726
chr2239014951239015001E07248260
chr2238970839238970899E0734148
chr2239014951239015001E07348260
chr2238917607238917771E074-48920
chr2238917904238917968E074-48723
chr2238918301238918438E074-48253
chr2238919370238919610E074-47081
chr2238919757238919867E074-46824
chr2238931681238931768E074-34923
chr2238950342238950447E074-16244
chr2238951505238951913E074-14778
chr2238989790238989866E07423099
chr2238989941238990032E07423250
chr2238990452238990751E07423761
chr2238994008238994058E08127317
chr2238994372238994803E08127681
chr2238993565238993671E08226874
chr2238994008238994058E08227317










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E0672009
chr2238968700238970607E0682009
chr2238968700238970607E0692009
chr2238968700238970607E0702009
chr2238968700238970607E0712009
chr2238968700238970607E0722009
chr2238968700238970607E0732009
chr2238968700238970607E0742009
chr2238968700238970607E0812009
chr2238968700238970607E0822009