rs821485

Homo sapiens
A>G
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0179 (5337/29788,GnomAD)
A==0210 (6138/29118,TOPMED)
A==0205 (1026/5008,1000G)
A==0177 (681/3854,ALSPAC)
A==0189 (702/3708,TWINSUK)
chr2:238058166 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.238058166A>G
GRCh37.p13 chr 2NC_000002.11:g.238966807A>G

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
1000GenomesAfricanSub1322A=0.299G=0.701
1000GenomesAmericanSub694A=0.190G=0.810
1000GenomesEast AsianSub1008A=0.029G=0.971
1000GenomesEuropeSub1006A=0.163G=0.837
1000GenomesGlobalStudy-wide5008A=0.205G=0.795
1000GenomesSouth AsianSub978A=0.310G=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.177G=0.823
The Genome Aggregation DatabaseAfricanSub8636A=0.287G=0.713
The Genome Aggregation DatabaseAmericanSub830A=0.180G=0.820
The Genome Aggregation DatabaseEast AsianSub1620A=0.025G=0.975
The Genome Aggregation DatabaseEuropeSub18400A=0.143G=0.856
The Genome Aggregation DatabaseGlobalStudy-wide29788A=0.179G=0.820
The Genome Aggregation DatabaseOtherSub302A=0.100G=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.210G=0.789
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.189G=0.811
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
rs8214856.82E-05alcohol consumption23743675

eQTL of rs821485 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238966807SCLYENSG00000132330.12A>G7.8532e-10-2723Cerebellum
Chr2:238966807SCLYENSG00000132330.12A>G1.0714e-8-2723Cortex
Chr2:238966807SCLYENSG00000132330.12A>G2.0850e-8-2723Cerebellar_Hemisphere
Chr2:238966807SCLYENSG00000132330.12A>G1.4177e-3-2723Caudate_basal_ganglia
Chr2:238966807SCLYENSG00000132330.12A>G7.2091e-4-2723Anterior_cingulate_cortex

meQTL of rs821485 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.05528679478096757.5821e-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 )
chr2238917607238917771E067-49036
chr2238931681238931768E067-35039
chr2238950342238950447E067-16360
chr2238951505238951913E067-14894
chr2238970839238970899E0674032
chr2238990205238990255E06723398
chr2238990452238990751E06723645
chr2238970839238970899E0684032
chr2238918301238918438E069-48369
chr2238919370238919610E069-47197
chr2238919757238919867E069-46940
chr2238928552238929028E069-37779
chr2238951505238951913E069-14894
chr2238970839238970899E0694032
chr2238989790238989866E06922983
chr2238989941238990032E06923134
chr2238990205238990255E06923398
chr2238970839238970899E0704032
chr2238917607238917771E071-49036
chr2238917904238917968E071-48839
chr2238918301238918438E071-48369
chr2238919370238919610E071-47197
chr2238919757238919867E071-46940
chr2238950342238950447E071-16360
chr2238951505238951913E071-14894
chr2238951961238952020E071-14787
chr2238970839238970899E0714032
chr2238989247238989354E07122440
chr2238989790238989866E07122983
chr2238989941238990032E07123134
chr2238990205238990255E07123398
chr2238990452238990751E07123645
chr2239007116239007529E07140309
chr2238917607238917771E072-49036
chr2238950342238950447E072-16360
chr2238989790238989866E07222983
chr2238989941238990032E07223134
chr2238990205238990255E07223398
chr2238990452238990751E07223645
chr2239014417239014467E07247610
chr2239014951239015001E07248144
chr2238970839238970899E0734032
chr2239014951239015001E07348144
chr2238917607238917771E074-49036
chr2238917904238917968E074-48839
chr2238918301238918438E074-48369
chr2238919370238919610E074-47197
chr2238919757238919867E074-46940
chr2238931681238931768E074-35039
chr2238950342238950447E074-16360
chr2238951505238951913E074-14894
chr2238989790238989866E07422983
chr2238989941238990032E07423134
chr2238990452238990751E07423645
chr2238994008238994058E08127201
chr2238994372238994803E08127565
chr2238993565238993671E08226758
chr2238994008238994058E08227201










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E0671893
chr2238968700238970607E0681893
chr2238968700238970607E0691893
chr2238968700238970607E0701893
chr2238968700238970607E0711893
chr2238968700238970607E0721893
chr2238968700238970607E0731893
chr2238968700238970607E0741893
chr2238968700238970607E0811893
chr2238968700238970607E0821893