rs6956243

Homo sapiens
T>C
CBLL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0233 (6980/29944,GnomAD)
C=0180 (5255/29118,TOPMED)
C=0275 (1378/5008,1000G)
C=0242 (933/3854,ALSPAC)
C=0253 (939/3708,TWINSUK)
chr7:107748466 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107748466T>C
GRCh37.p13 chr 7NC_000007.13:g.107388911T>C

Gene: CBLL1, Cbl proto-oncogene like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CBLL1 transcript variant 3NM_001284291.1:c.N/AIntron Variant
CBLL1 transcript variant 1NM_024814.3:c.N/AIntron Variant
CBLL1 transcript variant 2NR_024199.2:n.N/AIntron Variant
CBLL1 transcript variant X3XM_011516580.2:c.N/AIntron Variant
CBLL1 transcript variant X1XM_017012643.1:c.N/AIntron Variant
CBLL1 transcript variant X6XM_017012644.1:c.N/AIntron Variant
CBLL1 transcript variant X8XM_017012645.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.927C=0.073
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.646C=0.354
1000GenomesEuropeSub1006T=0.736C=0.264
1000GenomesGlobalStudy-wide5008T=0.725C=0.275
1000GenomesSouth AsianSub978T=0.530C=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.758C=0.242
The Genome Aggregation DatabaseAfricanSub8728T=0.902C=0.098
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1614T=0.623C=0.377
The Genome Aggregation DatabaseEuropeSub18464T=0.718C=0.281
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.766C=0.233
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.819C=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.747C=0.253
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
rs69562437.24E-05alcohol consumption23743675

eQTL of rs6956243 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107388911AC002467.7ENSG00000241764.3T>C1.1747e-44030Cerebellum
Chr7:107388911AC002467.7ENSG00000241764.3T>C2.1985e-54030Frontal_Cortex_BA9
Chr7:107388911AC002467.7ENSG00000241764.3T>C1.0521e-44030Cortex
Chr7:107388911AC002467.7ENSG00000241764.3T>C4.1131e-54030Cerebellar_Hemisphere
Chr7:107388911AC002467.7ENSG00000241764.3T>C2.6099e-44030Anterior_cingulate_cortex
Chr7:107388911AC002467.7ENSG00000241764.3T>C1.0776e-34030Nucleus_accumbens_basal_ganglia

meQTL of rs6956243 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 )
chr7107383023107383099E067-5812
chr7107386669107386772E067-2139
chr7107387624107387709E067-1202
chr7107387798107387880E067-1031
chr7107341168107341256E068-47655
chr7107341276107341497E068-47414
chr7107382753107382818E068-6093
chr7107386669107386772E068-2139
chr7107387624107387709E068-1202
chr7107387798107387880E068-1031
chr7107387932107387978E068-933
chr7107388350107388400E068-511
chr7107383023107383099E069-5812
chr7107386669107386772E069-2139
chr7107387624107387709E069-1202
chr7107387798107387880E069-1031
chr7107387932107387978E069-933
chr7107383023107383099E070-5812
chr7107386669107386772E070-2139
chr7107387798107387880E070-1031
chr7107387932107387978E070-933
chr7107388350107388400E070-511
chr7107383023107383099E071-5812
chr7107383023107383099E072-5812
chr7107386669107386772E072-2139
chr7107338996107339076E081-49835
chr7107386669107386772E082-2139
chr7107387798107387880E082-1031
chr7107387932107387978E082-933
chr7107388350107388400E082-511








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-3386
chr7107383118107385525E068-3386
chr7107383118107385525E069-3386
chr7107383118107385525E070-3386
chr7107383118107385525E071-3386
chr7107383118107385525E072-3386
chr7107383118107385525E073-3386
chr7107383118107385525E074-3386
chr7107383118107385525E081-3386
chr7107383118107385525E082-3386