rs7422865

Homo sapiens
T>C
UBE2F : Intron Variant
UBE2F-SCLY : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0112 (3324/29468,GnomAD)
T==0110 (3204/29118,TOPMED)
T==0134 (669/5008,1000G)
T==0177 (684/3854,ALSPAC)
T==0190 (706/3708,TWINSUK)
chr2:237984050 (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.237984050T>C
GRCh37.p13 chr 2NC_000002.11:g.238892692T>C

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
1000GenomesAfricanSub1322T=0.033C=0.967
1000GenomesAmericanSub694T=0.180C=0.820
1000GenomesEast AsianSub1008T=0.030C=0.970
1000GenomesEuropeSub1006T=0.164C=0.836
1000GenomesGlobalStudy-wide5008T=0.134C=0.866
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 DatabaseAfricanSub8560T=0.057C=0.943
The Genome Aggregation DatabaseAmericanSub834T=0.170C=0.830
The Genome Aggregation DatabaseEast AsianSub1594T=0.029C=0.971
The Genome Aggregation DatabaseEuropeSub18186T=0.144C=0.856
The Genome Aggregation DatabaseGlobalStudy-wide29468T=0.112C=0.887
The Genome Aggregation DatabaseOtherSub294T=0.110C=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.110C=0.890
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.190C=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
rs74228650.000147alcohol consumption23743675

eQTL of rs7422865 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238892692SCLYENSG00000132330.12T>C7.8532e-10-76838Cerebellum
Chr2:238892692SCLYENSG00000132330.12T>C1.0714e-8-76838Cortex
Chr2:238892692SCLYENSG00000132330.12T>C2.0850e-8-76838Cerebellar_Hemisphere
Chr2:238892692SCLYENSG00000132330.12T>C1.4177e-3-76838Caudate_basal_ganglia
Chr2:238892692SCLYENSG00000132330.12T>C7.2091e-4-76838Anterior_cingulate_cortex

meQTL of rs7422865 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 )
chr2238877816238878038E067-14654
chr2238878398238878539E067-14153
chr2238878551238878601E067-14091
chr2238878666238878738E067-13954
chr2238879158238879263E067-13429
chr2238886584238886634E067-6058
chr2238886907238887414E067-5278
chr2238888018238888228E067-4464
chr2238888415238888465E067-4227
chr2238888921238888998E067-3694
chr2238889558238889737E067-2955
chr2238889976238890179E067-2513
chr2238893121238893238E067429
chr2238904560238904874E06711868
chr2238904955238905113E06712263
chr2238917607238917771E06724915
chr2238931681238931768E06738989
chr2238851806238851846E068-40846
chr2238851954238852295E068-40397
chr2238877816238878038E068-14654
chr2238878398238878539E068-14153
chr2238878551238878601E068-14091
chr2238878666238878738E068-13954
chr2238879158238879263E068-13429
chr2238886584238886634E068-6058
chr2238886907238887414E068-5278
chr2238888018238888228E068-4464
chr2238888415238888465E068-4227
chr2238888921238888998E068-3694
chr2238889558238889737E068-2955
chr2238889976238890179E068-2513
chr2238892164238892276E068-416
chr2238893121238893238E068429
chr2238877816238878038E069-14654
chr2238878398238878539E069-14153
chr2238878551238878601E069-14091
chr2238878666238878738E069-13954
chr2238886584238886634E069-6058
chr2238886907238887414E069-5278
chr2238888018238888228E069-4464
chr2238888921238888998E069-3694
chr2238889558238889737E069-2955
chr2238893121238893238E069429
chr2238904955238905113E06912263
chr2238918301238918438E06925609
chr2238919370238919610E06926678
chr2238919757238919867E06927065
chr2238928552238929028E06935860
chr2238886584238886634E070-6058
chr2238886907238887414E070-5278
chr2238888921238888998E070-3694
chr2238851806238851846E071-40846
chr2238851954238852295E071-40397
chr2238878666238878738E071-13954
chr2238879158238879263E071-13429
chr2238886011238886062E071-6630
chr2238886584238886634E071-6058
chr2238886907238887414E071-5278
chr2238888018238888228E071-4464
chr2238888415238888465E071-4227
chr2238888921238888998E071-3694
chr2238893121238893238E071429
chr2238917607238917771E07124915
chr2238917904238917968E07125212
chr2238918301238918438E07125609
chr2238919370238919610E07126678
chr2238919757238919867E07127065
chr2238867147238867197E072-25495
chr2238878551238878601E072-14091
chr2238886011238886062E072-6630
chr2238886584238886634E072-6058
chr2238886907238887414E072-5278
chr2238888018238888228E072-4464
chr2238888415238888465E072-4227
chr2238888921238888998E072-3694
chr2238889558238889737E072-2955
chr2238893121238893238E072429
chr2238917607238917771E07224915
chr2238878551238878601E073-14091
chr2238878666238878738E073-13954
chr2238886011238886062E073-6630
chr2238886584238886634E073-6058
chr2238886907238887414E073-5278
chr2238888018238888228E073-4464
chr2238888415238888465E073-4227
chr2238888921238888998E073-3694
chr2238889558238889737E073-2955
chr2238892164238892276E073-416
chr2238893121238893238E073429
chr2238851954238852295E074-40397
chr2238878551238878601E074-14091
chr2238878666238878738E074-13954
chr2238879158238879263E074-13429
chr2238880434238880549E074-12143
chr2238880894238880969E074-11723
chr2238884641238884818E074-7874
chr2238886011238886062E074-6630
chr2238886584238886634E074-6058
chr2238886907238887414E074-5278
chr2238888921238888998E074-3694
chr2238889558238889737E074-2955
chr2238889976238890179E074-2513
chr2238893121238893238E074429
chr2238904560238904874E07411868
chr2238904955238905113E07412263
chr2238915164238915422E07422472
chr2238917607238917771E07424915
chr2238917904238917968E07425212
chr2238918301238918438E07425609
chr2238919370238919610E07426678
chr2238919757238919867E07427065
chr2238931681238931768E07438989
chr2238877816238878038E081-14654
chr2238878398238878539E081-14153
chr2238886907238887414E082-5278










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E067-16588
chr2238876111238876550E067-16142
chr2238864688238864740E068-27952
chr2238864741238864973E068-27719
chr2238865051238865134E068-27558
chr2238865144238865248E068-27444
chr2238874796238876104E068-16588
chr2238876111238876550E068-16142
chr2238865051238865134E069-27558
chr2238865144238865248E069-27444
chr2238874796238876104E069-16588
chr2238876111238876550E069-16142
chr2238864741238864973E070-27719
chr2238874796238876104E070-16588
chr2238876111238876550E070-16142
chr2238874796238876104E071-16588
chr2238876111238876550E071-16142
chr2238874796238876104E072-16588
chr2238876111238876550E072-16142
chr2238865051238865134E073-27558
chr2238865144238865248E073-27444
chr2238874796238876104E073-16588
chr2238876111238876550E073-16142
chr2238874796238876104E074-16588
chr2238876111238876550E074-16142
chr2238876111238876550E081-16142
chr2238864688238864740E082-27952
chr2238864741238864973E082-27719
chr2238865051238865134E082-27558
chr2238865144238865248E082-27444
chr2238874796238876104E082-16588
chr2238876111238876550E082-16142