SNP Detail Info-rs4730258

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CBLL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0279 (8362/29900,GnomAD)
G=0250 (7306/29118,TOPMED)
G=0325 (1626/5008,1000G)
G=0246 (949/3854,ALSPAC)
G=0255 (944/3708,TWINSUK)

Position: chr7:107755787 (GRCh38.p7) (7q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 27 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107755787A>G
GRCh37.p13 chr 7	NC_000007.13:g.107396232A>G

Molecule type	Change	Amino acid[Codon]	SO Term
CBLL1 transcript variant 3	NM_001284291.1:c.	N/A	Intron Variant
CBLL1 transcript variant 1	NM_024814.3:c.	N/A	Intron Variant
CBLL1 transcript variant 2	NR_024199.2:n.	N/A	Intron Variant
CBLL1 transcript variant X3	XM_011516580.2:c.	N/A	Intron Variant
CBLL1 transcript variant X1	XM_017012643.1:c.	N/A	Intron Variant
CBLL1 transcript variant X6	XM_017012644.1:c.	N/A	Intron Variant
CBLL1 transcript variant X8	XM_017012645.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.756	G=0.244
1000Genomes	American	Sub	694	A=0.700	G=0.300
1000Genomes	East Asian	Sub	1008	A=0.648	G=0.352
1000Genomes	Europe	Sub	1006	A=0.733	G=0.267
1000Genomes	Global	Study-wide	5008	A=0.675	G=0.325
1000Genomes	South Asian	Sub	978	A=0.520	G=0.480
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.754	G=0.246
The Genome Aggregation Database	African	Sub	8708	A=0.749	G=0.251
The Genome Aggregation Database	American	Sub	832	A=0.670	G=0.330
The Genome Aggregation Database	East Asian	Sub	1610	A=0.622	G=0.378
The Genome Aggregation Database	Europe	Sub	18448	A=0.716	G=0.283
The Genome Aggregation Database	Global	Study-wide	29900	A=0.720	G=0.279
The Genome Aggregation Database	Other	Sub	302	A=0.770	G=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.749	G=0.250
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.745	G=0.255

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs4730258	7.57E-05	alcohol consumption	23743675

eQTL of rs4730258 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	1.1747e-4	11351	Cerebellum
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	2.1985e-5	11351	Frontal_Cortex_BA9
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	1.0521e-4	11351	Cortex
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	4.1131e-5	11351	Cerebellar_Hemisphere
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	2.6099e-4	11351	Anterior_cingulate_cortex
Chr7:107396232	AC002467.7	ENSG00000241764.3	A>G	1.0776e-3	11351	Nucleus_accumbens_basal_ganglia

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	107383023	107383099	E067	-13133
chr7	107386669	107386772	E067	-9460
chr7	107387624	107387709	E067	-8523
chr7	107387798	107387880	E067	-8352
chr7	107382753	107382818	E068	-13414
chr7	107386669	107386772	E068	-9460
chr7	107387624	107387709	E068	-8523
chr7	107387798	107387880	E068	-8352
chr7	107387932	107387978	E068	-8254
chr7	107388350	107388400	E068	-7832
chr7	107383023	107383099	E069	-13133
chr7	107386669	107386772	E069	-9460
chr7	107387624	107387709	E069	-8523
chr7	107387798	107387880	E069	-8352
chr7	107387932	107387978	E069	-8254
chr7	107383023	107383099	E070	-13133
chr7	107386669	107386772	E070	-9460
chr7	107387798	107387880	E070	-8352
chr7	107387932	107387978	E070	-8254
chr7	107388350	107388400	E070	-7832
chr7	107383023	107383099	E071	-13133
chr7	107383023	107383099	E072	-13133
chr7	107386669	107386772	E072	-9460
chr7	107386669	107386772	E082	-9460
chr7	107387798	107387880	E082	-8352
chr7	107387932	107387978	E082	-8254
chr7	107388350	107388400	E082	-7832

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	-10707
chr7	107383118	107385525	E068	-10707
chr7	107383118	107385525	E069	-10707
chr7	107383118	107385525	E070	-10707
chr7	107383118	107385525	E071	-10707
chr7	107383118	107385525	E072	-10707
chr7	107383118	107385525	E073	-10707
chr7	107383118	107385525	E074	-10707
chr7	107383118	107385525	E081	-10707
chr7	107383118	107385525	E082	-10707

rs4730258