rs13231387

Homo sapiens
C>T
CBLL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0233 (6847/29330,GnomAD)
T=0180 (5249/29118,TOPMED)
T=0275 (1376/5008,1000G)
T=0244 (941/3854,ALSPAC)
T=0254 (940/3708,TWINSUK)
chr7:107749534 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107749534C>T
GRCh37.p13 chr 7NC_000007.13:g.107389979C>T

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
1000GenomesAfricanSub1322C=0.927T=0.073
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.648T=0.352
1000GenomesEuropeSub1006C=0.736T=0.264
1000GenomesGlobalStudy-wide5008C=0.725T=0.275
1000GenomesSouth AsianSub978C=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.756T=0.244
The Genome Aggregation DatabaseAfricanSub8660C=0.903T=0.097
The Genome Aggregation DatabaseAmericanSub782C=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1594C=0.624T=0.376
The Genome Aggregation DatabaseEuropeSub17994C=0.717T=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29330C=0.766T=0.233
The Genome Aggregation DatabaseOtherSub300C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.819T=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.746T=0.254
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
rs132313877.27E-05alcohol consumption23743675

eQTL of rs13231387 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107389979AC002467.7ENSG00000241764.3C>T1.1747e-45098Cerebellum
Chr7:107389979AC002467.7ENSG00000241764.3C>T2.1985e-55098Frontal_Cortex_BA9
Chr7:107389979AC002467.7ENSG00000241764.3C>T1.0521e-45098Cortex
Chr7:107389979AC002467.7ENSG00000241764.3C>T4.1131e-55098Cerebellar_Hemisphere
Chr7:107389979AC002467.7ENSG00000241764.3C>T2.6099e-45098Anterior_cingulate_cortex
Chr7:107389979AC002467.7ENSG00000241764.3C>T1.0776e-35098Nucleus_accumbens_basal_ganglia

meQTL of rs13231387 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 )
chr7107383023107383099E067-6880
chr7107386669107386772E067-3207
chr7107387624107387709E067-2270
chr7107387798107387880E067-2099
chr7107341168107341256E068-48723
chr7107341276107341497E068-48482
chr7107382753107382818E068-7161
chr7107386669107386772E068-3207
chr7107387624107387709E068-2270
chr7107387798107387880E068-2099
chr7107387932107387978E068-2001
chr7107388350107388400E068-1579
chr7107383023107383099E069-6880
chr7107386669107386772E069-3207
chr7107387624107387709E069-2270
chr7107387798107387880E069-2099
chr7107387932107387978E069-2001
chr7107383023107383099E070-6880
chr7107386669107386772E070-3207
chr7107387798107387880E070-2099
chr7107387932107387978E070-2001
chr7107388350107388400E070-1579
chr7107383023107383099E071-6880
chr7107383023107383099E072-6880
chr7107386669107386772E072-3207
chr7107386669107386772E082-3207
chr7107387798107387880E082-2099
chr7107387932107387978E082-2001
chr7107388350107388400E082-1579







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-4454
chr7107383118107385525E068-4454
chr7107383118107385525E069-4454
chr7107383118107385525E070-4454
chr7107383118107385525E071-4454
chr7107383118107385525E072-4454
chr7107383118107385525E073-4454
chr7107383118107385525E074-4454
chr7107383118107385525E081-4454
chr7107383118107385525E082-4454