rs7787927

Homo sapiens
C>A
CBLL1 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0314 (9386/29892,GnomAD)
A=0301 (8786/29118,TOPMED)
A=0364 (1824/5008,1000G)
A=0245 (946/3854,ALSPAC)
A=0254 (940/3708,TWINSUK)
chr7:107763915 (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.107763915C>A
GRCh37.p13 chr 7NC_000007.13:g.107404360C>A
SLC26A3 RefSeqGene LRG_683

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/AGenic Downstream Transcript Variant
CBLL1 transcript variant 1NM_024814.3:c.N/AGenic Downstream Transcript Variant
CBLL1 transcript variant 2NR_024199.2:n.N/AGenic Downstream Transcript Variant
CBLL1 transcript variant X1XM_017012643.1:c.N/A3 Prime UTR Variant
CBLL1 transcript variant X6XM_017012644.1:c.N/A3 Prime UTR Variant
CBLL1 transcript variant X3XM_011516580.2:c.N/A3 Prime UTR Variant
CBLL1 transcript variant X8XM_017012645.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.610A=0.390
1000GenomesAmericanSub694C=0.690A=0.310
1000GenomesEast AsianSub1008C=0.646A=0.354
1000GenomesEuropeSub1006C=0.734A=0.266
1000GenomesGlobalStudy-wide5008C=0.636A=0.364
1000GenomesSouth AsianSub978C=0.520A=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.755A=0.245
The Genome Aggregation DatabaseAfricanSub8702C=0.629A=0.371
The Genome Aggregation DatabaseAmericanSub836C=0.670A=0.330
The Genome Aggregation DatabaseEast AsianSub1602C=0.620A=0.380
The Genome Aggregation DatabaseEuropeSub18450C=0.717A=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.686A=0.314
The Genome Aggregation DatabaseOtherSub302C=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.698A=0.301
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.746A=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
rs77879276.22E-05alcohol consumption23743675

eQTL of rs7787927 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107404360AC002467.7ENSG00000241764.3C>A1.1747e-419479Cerebellum
Chr7:107404360AC002467.7ENSG00000241764.3C>A2.1985e-519479Frontal_Cortex_BA9
Chr7:107404360AC002467.7ENSG00000241764.3C>A4.1131e-519479Cerebellar_Hemisphere
Chr7:107404360AC002467.7ENSG00000241764.3C>A2.6099e-419479Anterior_cingulate_cortex
Chr7:107404360AC002467.7ENSG00000241764.3C>A1.0776e-319479Nucleus_accumbens_basal_ganglia

meQTL of rs7787927 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 )
chr7107383023107383099E067-21261
chr7107386669107386772E067-17588
chr7107387624107387709E067-16651
chr7107387798107387880E067-16480
chr7107382753107382818E068-21542
chr7107386669107386772E068-17588
chr7107387624107387709E068-16651
chr7107387798107387880E068-16480
chr7107387932107387978E068-16382
chr7107388350107388400E068-15960
chr7107383023107383099E069-21261
chr7107386669107386772E069-17588
chr7107387624107387709E069-16651
chr7107387798107387880E069-16480
chr7107387932107387978E069-16382
chr7107383023107383099E070-21261
chr7107386669107386772E070-17588
chr7107387798107387880E070-16480
chr7107387932107387978E070-16382
chr7107388350107388400E070-15960
chr7107383023107383099E071-21261
chr7107383023107383099E072-21261
chr7107386669107386772E072-17588
chr7107386669107386772E082-17588
chr7107387798107387880E082-16480
chr7107387932107387978E082-16382
chr7107388350107388400E082-15960







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-18835
chr7107383118107385525E068-18835
chr7107383118107385525E069-18835
chr7107383118107385525E070-18835
chr7107383118107385525E071-18835
chr7107383118107385525E072-18835
chr7107383118107385525E073-18835
chr7107383118107385525E074-18835
chr7107383118107385525E081-18835
chr7107383118107385525E082-18835