rs7782475

Homo sapiens
C>T
CBLL1 : Intron Variant
LOC101927974 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0316 (9462/29896,GnomAD)
T=0305 (8885/29118,TOPMED)
T=0367 (1839/5008,1000G)
T=0243 (937/3854,ALSPAC)
T=0253 (939/3708,TWINSUK)
chr7:107745806 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107745806C>T
GRCh37.p13 chr 7NC_000007.13:g.107386251C>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

Gene: LOC101927974, uncharacterized LOC101927974(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC101927974 transcript variant X1XR_927849.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.598T=0.402
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.646T=0.354
1000GenomesEuropeSub1006C=0.734T=0.266
1000GenomesGlobalStudy-wide5008C=0.633T=0.367
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.757T=0.243
The Genome Aggregation DatabaseAfricanSub8704C=0.621T=0.379
The Genome Aggregation DatabaseAmericanSub836C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1612C=0.620T=0.380
The Genome Aggregation DatabaseEuropeSub18442C=0.717T=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.683T=0.316
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.694T=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.747T=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
rs77824759.38E-05alcohol consumption23743675

eQTL of rs7782475 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107386251AC002467.7ENSG00000241764.3C>T1.1747e-41370Cerebellum
Chr7:107386251AC002467.7ENSG00000241764.3C>T2.1985e-51370Frontal_Cortex_BA9
Chr7:107386251AC002467.7ENSG00000241764.3C>T4.1131e-51370Cerebellar_Hemisphere
Chr7:107386251AC002467.7ENSG00000241764.3C>T2.6099e-41370Anterior_cingulate_cortex
Chr7:107386251AC002467.7ENSG00000241764.3C>T1.0776e-31370Nucleus_accumbens_basal_ganglia

meQTL of rs7782475 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 )
chr7107383023107383099E067-3152
chr7107386669107386772E067418
chr7107387624107387709E0671373
chr7107387798107387880E0671547
chr7107341168107341256E068-44995
chr7107341276107341497E068-44754
chr7107382753107382818E068-3433
chr7107386669107386772E068418
chr7107387624107387709E0681373
chr7107387798107387880E0681547
chr7107387932107387978E0681681
chr7107388350107388400E0682099
chr7107337294107337374E069-48877
chr7107337495107337545E069-48706
chr7107383023107383099E069-3152
chr7107386669107386772E069418
chr7107387624107387709E0691373
chr7107387798107387880E0691547
chr7107387932107387978E0691681
chr7107337495107337545E070-48706
chr7107337639107338679E070-47572
chr7107383023107383099E070-3152
chr7107386669107386772E070418
chr7107387798107387880E0701547
chr7107387932107387978E0701681
chr7107388350107388400E0702099
chr7107337495107337545E071-48706
chr7107337639107338679E071-47572
chr7107383023107383099E071-3152
chr7107337639107338679E072-47572
chr7107383023107383099E072-3152
chr7107386669107386772E072418
chr7107337639107338679E073-47572
chr7107337639107338679E081-47572
chr7107338996107339076E081-47175
chr7107337294107337374E082-48877
chr7107337495107337545E082-48706
chr7107337639107338679E082-47572
chr7107386669107386772E082418
chr7107387798107387880E0821547
chr7107387932107387978E0821681
chr7107388350107388400E0822099









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-726
chr7107383118107385525E068-726
chr7107383118107385525E069-726
chr7107383118107385525E070-726
chr7107383118107385525E071-726
chr7107383118107385525E072-726
chr7107383118107385525E073-726
chr7107383118107385525E074-726
chr7107383118107385525E081-726
chr7107383118107385525E082-726