rs10280767

Homo sapiens
C>A
CBLL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0271 (8106/29914,GnomAD)
C==0288 (8389/29118,TOPMED)
C==0208 (1043/5008,1000G)
C==0296 (1139/3854,ALSPAC)
C==0299 (1107/3708,TWINSUK)
chr7:107752975 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107752975C>A
GRCh37.p13 chr 7NC_000007.13:g.107393420C>A

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=0.314A=0.686
1000GenomesAmericanSub694C=0.230A=0.770
1000GenomesEast AsianSub1008C=0.017A=0.983
1000GenomesEuropeSub1006C=0.306A=0.694
1000GenomesGlobalStudy-wide5008C=0.208A=0.792
1000GenomesSouth AsianSub978C=0.140A=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.296A=0.704
The Genome Aggregation DatabaseAfricanSub8696C=0.311A=0.689
The Genome Aggregation DatabaseAmericanSub834C=0.180A=0.820
The Genome Aggregation DatabaseEast AsianSub1618C=0.011A=0.989
The Genome Aggregation DatabaseEuropeSub18464C=0.278A=0.721
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.271A=0.729
The Genome Aggregation DatabaseOtherSub302C=0.300A=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.288A=0.711
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.299A=0.701
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
rs102807674.6E-05alcohol consumption23743675

eQTL of rs10280767 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 rs10280767 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 )
chr7107383023107383099E067-10321
chr7107386669107386772E067-6648
chr7107387624107387709E067-5711
chr7107387798107387880E067-5540
chr7107382753107382818E068-10602
chr7107386669107386772E068-6648
chr7107387624107387709E068-5711
chr7107387798107387880E068-5540
chr7107387932107387978E068-5442
chr7107388350107388400E068-5020
chr7107383023107383099E069-10321
chr7107386669107386772E069-6648
chr7107387624107387709E069-5711
chr7107387798107387880E069-5540
chr7107387932107387978E069-5442
chr7107383023107383099E070-10321
chr7107386669107386772E070-6648
chr7107387798107387880E070-5540
chr7107387932107387978E070-5442
chr7107388350107388400E070-5020
chr7107383023107383099E071-10321
chr7107383023107383099E072-10321
chr7107386669107386772E072-6648
chr7107386669107386772E082-6648
chr7107387798107387880E082-5540
chr7107387932107387978E082-5442
chr7107388350107388400E082-5020







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-7895
chr7107383118107385525E068-7895
chr7107383118107385525E069-7895
chr7107383118107385525E070-7895
chr7107383118107385525E071-7895
chr7107383118107385525E072-7895
chr7107383118107385525E073-7895
chr7107383118107385525E074-7895
chr7107383118107385525E081-7895
chr7107383118107385525E082-7895