rs10941010

Homo sapiens
C>T
SUB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0492 (14412/29246,GnomAD)
T=0494 (14411/29118,TOPMED)
C==0488 (2443/5008,1000G)
C==0486 (1872/3854,ALSPAC)
C==0488 (1809/3708,TWINSUK)
chr5:32561694 (GRCh38.p7) (5p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.32561694C>T
GRCh37.p13 chr 5NC_000005.9:g.32561800C>T

Gene: SUB1, SUB1 homolog, transcriptional regulator(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SUB1 transcriptNM_006713.3:c.N/AGenic Upstream Transcript Variant
SUB1 transcript variant X1XM_017008986.1:c.N/AIntron Variant
SUB1 transcript variant X2XM_017008987.1:c.N/AIntron Variant
SUB1 transcript variant X3XM_011513944.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.507T=0.493
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.507T=0.493
1000GenomesEuropeSub1006C=0.498T=0.502
1000GenomesGlobalStudy-wide5008C=0.488T=0.512
1000GenomesSouth AsianSub978C=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.486T=0.514
The Genome Aggregation DatabaseAfricanSub8582C=0.534T=0.466
The Genome Aggregation DatabaseAmericanSub824C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1606C=0.531T=0.469
The Genome Aggregation DatabaseEuropeSub17936C=0.472T=0.527
The Genome Aggregation DatabaseGlobalStudy-wide29246C=0.492T=0.507
The Genome Aggregation DatabaseOtherSub298C=0.370T=0.630
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.505T=0.494
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.488T=0.512
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
rs109410103.39E-05alcohol consumption23743675

eQTL of rs10941010 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs10941010 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

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 )
chr53258777632587845E06725976
chr53258837732588545E06726577
chr53259725632597395E06735456
chr53259741332597506E06735613
chr53259980532600010E06738005
chr53260023532600546E06738435
chr53253124132531472E068-30328
chr53258837732588545E06826577
chr53259741332597506E06835613
chr53258777632587845E06925976
chr53258837732588545E06926577
chr53258922432589453E06927424
chr53258949032589530E06927690
chr53258967032589783E06927870
chr53259741332597506E06935613
chr53259778232597843E06935982
chr53253124132531472E070-30328
chr53253869732538791E070-23009
chr53258866432588711E07026864
chr53258883232588899E07027032
chr53258911532589165E07027315
chr53258922432589453E07027424
chr53258949032589530E07027690
chr53258967032589783E07027870
chr53258985032590027E07028050
chr53258777632587845E07125976
chr53258837732588545E07126577
chr53260023532600546E07138435
chr53259954532599757E07237745
chr53259980532600010E07238005
chr53260023532600546E07238435
chr53253124132531472E073-30328
chr53259725632597395E07335456
chr53260023532600546E07338435
chr53259741332597506E07435613
chr53259980532600010E07438005
chr53260023532600546E07438435
chr53253124132531472E081-30328
chr53253736632537544E081-24256
chr53258777632587845E08125976
chr53253124132531472E082-30328
chr53254526332545470E082-16330
chr53254559432545663E082-16137
chr53258777632587845E08225976
chr53258837732588545E08226577
chr53258866432588711E08226864
chr53258883232588899E08227032










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr53258513332586717E06723333
chr53258513332586717E06823333
chr53258513332586717E06923333
chr53258513332586717E07023333
chr53258513332586717E07123333
chr53258513332586717E07223333
chr53258513332586717E07323333
chr53258513332586717E07423333
chr53258513332586717E08123333
chr53258513332586717E08223333