rs11196449

Homo sapiens
T>C
CASP7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0321 (9614/29946,GnomAD)
T==0281 (8196/29118,TOPMED)
T==0283 (1417/5008,1000G)
T==0401 (1545/3854,ALSPAC)
T==0408 (1514/3708,TWINSUK)
chr10:113720823 (GRCh38.p7) (10q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
66 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.113720823T>C
GRCh37.p13 chr 10NC_000010.10:g.115480582T>C

Gene: CASP7, caspase 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CASP7 transcript variant aNM_001227.4:c.N/AIntron Variant
CASP7 transcript variant eNM_001267056.1:c.N/AIntron Variant
CASP7 transcript variant fNM_001267057.1:c.N/AIntron Variant
CASP7 transcript variant gNM_001267058.1:c.N/AIntron Variant
CASP7 transcript variant hNM_001320911.1:c.N/AIntron Variant
CASP7 transcript variant dNM_033338.5:c.N/AIntron Variant
CASP7 transcript variant cNM_033339.4:c.N/AIntron Variant
CASP7 transcript variant bNM_033340.3:c.N/AIntron Variant
CASP7 transcript variant X2XM_006718017.3:c.N/AIntron Variant
CASP7 transcript variant X4XM_011540260.1:c.N/AIntron Variant
CASP7 transcript variant X1XM_017016763.1:c.N/AIntron Variant
CASP7 transcript variant X3XM_017016764.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.100C=0.900
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.224C=0.776
1000GenomesEuropeSub1006T=0.380C=0.620
1000GenomesGlobalStudy-wide5008T=0.283C=0.717
1000GenomesSouth AsianSub978T=0.360C=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.401C=0.599
The Genome Aggregation DatabaseAfricanSub8720T=0.142C=0.858
The Genome Aggregation DatabaseAmericanSub838T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1614T=0.237C=0.763
The Genome Aggregation DatabaseEuropeSub18472T=0.407C=0.593
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.321C=0.679
The Genome Aggregation DatabaseOtherSub302T=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.281C=0.718
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.408C=0.592
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs111964490.00049alcohol dependence(early age of onset)20201924
rs111964490.0009alcohol dependence20201924

eQTL of rs11196449 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 rs11196449 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 )
chr10115465227115465297E067-15285
chr10115465336115465508E067-15074
chr10115465563115465833E067-14749
chr10115470934115471654E067-8928
chr10115465227115465297E068-15285
chr10115465336115465508E068-15074
chr10115465563115465833E068-14749
chr10115465904115466035E068-14547
chr10115469967115470087E068-10495
chr10115470259115470360E068-10222
chr10115470669115470719E068-9863
chr10115470934115471654E068-8928
chr10115498798115499291E06818216
chr10115499543115499616E06818961
chr10115441380115441485E069-39097
chr10115465227115465297E069-15285
chr10115465336115465508E069-15074
chr10115466977115467043E069-13539
chr10115467249115467484E069-13098
chr10115470934115471654E069-8928
chr10115498798115499291E06918216
chr10115499543115499616E06918961
chr10115470934115471654E070-8928
chr10115495191115495241E07014609
chr10115495666115496070E07015084
chr10115496190115496754E07015608
chr10115441380115441485E071-39097
chr10115441627115442136E071-38446
chr10115465227115465297E071-15285
chr10115465336115465508E071-15074
chr10115465563115465833E071-14749
chr10115465904115466035E071-14547
chr10115466485115466539E071-14043
chr10115466598115466673E071-13909
chr10115466977115467043E071-13539
chr10115470669115470719E071-9863
chr10115470934115471654E071-8928
chr10115498798115499291E07118216
chr10115464768115465110E072-15472
chr10115465125115465174E072-15408
chr10115465227115465297E072-15285
chr10115465336115465508E072-15074
chr10115465563115465833E072-14749
chr10115467249115467484E072-13098
chr10115470934115471654E072-8928
chr10115499543115499616E07218961
chr10115465227115465297E073-15285
chr10115465336115465508E073-15074
chr10115465563115465833E073-14749
chr10115465904115466035E073-14547
chr10115466485115466539E073-14043
chr10115466598115466673E073-13909
chr10115466977115467043E073-13539
chr10115470669115470719E073-9863
chr10115470934115471654E073-8928
chr10115465227115465297E074-15285
chr10115465336115465508E074-15074
chr10115465563115465833E074-14749
chr10115470259115470360E074-10222
chr10115470669115470719E074-9863
chr10115470934115471654E074-8928
chr10115498798115499291E07418216
chr10115495666115496070E08115084
chr10115496190115496754E08115608
chr10115495666115496070E08215084
chr10115496190115496754E08215608










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10115438390115441302E067-39280
chr10115438390115441302E068-39280
chr10115438390115441302E069-39280
chr10115438390115441302E070-39280
chr10115438390115441302E071-39280
chr10115438390115441302E072-39280
chr10115438390115441302E073-39280
chr10115438390115441302E074-39280
chr10115438390115441302E082-39280