rs1848035

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

CRYBG3 : Intron Variant
LOC101929298 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0458 (13720/29920,GnomAD)
T=0432 (12591/29118,TOPMED)
T=0473 (2367/5008,1000G)
C==0486 (1874/3854,ALSPAC)
C==0489 (1815/3708,TWINSUK)

Position: chr3:97823011 (GRCh38.p7) (3q11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 58 Enhancers around

Promoter: 32 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.97823011C>T
GRCh37.p13 chr 3	NC_000003.11:g.97541855C>T

Gene: CRYBG3, crystallin beta-gamma domain containing 3(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CRYBG3 transcript	NM_153605.3:c.	N/A	Intron Variant
CRYBG3 transcript variant X1	XM_005247117.4:c.	N/A	Intron Variant
CRYBG3 transcript variant X2	XR_001740014.1:n.	N/A	Intron Variant

Gene: LOC101929298, uncharacterized LOC101929298(minus strand): 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101929298 transcript	XR_427389.2:n.	N/A	Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.747	T=0.253
1000Genomes	American	Sub	694	C=0.500	T=0.500
1000Genomes	East Asian	Sub	1008	C=0.325	T=0.675
1000Genomes	Europe	Sub	1006	C=0.492	T=0.508
1000Genomes	Global	Study-wide	5008	C=0.527	T=0.473
1000Genomes	South Asian	Sub	978	C=0.490	T=0.510
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.486	T=0.514
The Genome Aggregation Database	African	Sub	8710	C=0.711	T=0.289
The Genome Aggregation Database	American	Sub	838	C=0.440	T=0.560
The Genome Aggregation Database	East Asian	Sub	1610	C=0.319	T=0.681
The Genome Aggregation Database	Europe	Sub	18462	C=0.487	T=0.512
The Genome Aggregation Database	Global	Study-wide	29920	C=0.541	T=0.458
The Genome Aggregation Database	Other	Sub	300	C=0.450	T=0.550
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.567	T=0.432
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.489	T=0.511

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs1848035	0.000981	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr3	97544068	97544211	E067	2213
chr3	97544240	97544339	E067	2385
chr3	97546763	97546840	E067	4908
chr3	97590715	97591785	E067	48860
chr3	97543193	97543337	E068	1338
chr3	97543431	97543481	E068	1576
chr3	97543665	97543715	E068	1810
chr3	97543808	97543861	E068	1953
chr3	97543863	97543974	E068	2008
chr3	97544068	97544211	E068	2213
chr3	97544240	97544339	E068	2385
chr3	97557014	97557072	E068	15159
chr3	97557316	97557530	E068	15461
chr3	97581494	97581604	E068	39639
chr3	97581656	97581714	E068	39801
chr3	97581812	97581903	E068	39957
chr3	97581907	97582242	E068	40052
chr3	97590715	97591785	E068	48860
chr3	97543193	97543337	E069	1338
chr3	97543665	97543715	E069	1810
chr3	97543808	97543861	E069	1953
chr3	97543863	97543974	E069	2008
chr3	97544068	97544211	E069	2213
chr3	97544240	97544339	E069	2385
chr3	97546763	97546840	E069	4908
chr3	97558804	97558854	E069	16949
chr3	97590146	97590300	E069	48291
chr3	97590715	97591785	E069	48860
chr3	97535711	97535976	E070	-5879
chr3	97543193	97543337	E071	1338
chr3	97543431	97543481	E071	1576
chr3	97543665	97543715	E071	1810
chr3	97543808	97543861	E071	1953
chr3	97543863	97543974	E071	2008
chr3	97544068	97544211	E071	2213
chr3	97544240	97544339	E071	2385
chr3	97546763	97546840	E071	4908
chr3	97549572	97549758	E071	7717
chr3	97549841	97549916	E071	7986
chr3	97543665	97543715	E072	1810
chr3	97543808	97543861	E072	1953
chr3	97543863	97543974	E072	2008
chr3	97544068	97544211	E072	2213
chr3	97544240	97544339	E072	2385
chr3	97559034	97559084	E072	17179
chr3	97590715	97591785	E072	48860
chr3	97539829	97539940	E073	-1915
chr3	97546763	97546840	E073	4908
chr3	97543431	97543481	E074	1576
chr3	97543665	97543715	E074	1810
chr3	97543808	97543861	E074	1953
chr3	97543863	97543974	E074	2008
chr3	97544068	97544211	E074	2213
chr3	97544240	97544339	E074	2385
chr3	97546763	97546840	E074	4908
chr3	97558804	97558854	E074	16949
chr3	97590715	97591785	E074	48860
chr3	97539829	97539940	E081	-1915

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	97539997	97541749	E067	-106
chr3	97541752	97541958	E067	0
chr3	97541966	97542798	E067	111
chr3	97542911	97542961	E067	1056
chr3	97539997	97541749	E068	-106
chr3	97541752	97541958	E068	0
chr3	97541966	97542798	E068	111
chr3	97542911	97542961	E068	1056
chr3	97539997	97541749	E069	-106
chr3	97541752	97541958	E069	0
chr3	97541966	97542798	E069	111
chr3	97542911	97542961	E069	1056
chr3	97539997	97541749	E071	-106
chr3	97541752	97541958	E071	0
chr3	97541966	97542798	E071	111
chr3	97542911	97542961	E071	1056
chr3	97539997	97541749	E072	-106
chr3	97541752	97541958	E072	0
chr3	97541966	97542798	E072	111
chr3	97542911	97542961	E072	1056
chr3	97539997	97541749	E073	-106
chr3	97541752	97541958	E073	0
chr3	97541966	97542798	E073	111
chr3	97542911	97542961	E073	1056
chr3	97539997	97541749	E074	-106
chr3	97541752	97541958	E074	0
chr3	97541966	97542798	E074	111
chr3	97542911	97542961	E074	1056
chr3	97539997	97541749	E081	-106
chr3	97541966	97542798	E081	111
chr3	97539997	97541749	E082	-106
chr3	97541752	97541958	E082	0

rs1848035

Genomic Coordinates

Gene: CRYBG3, crystallin beta-gamma domain containing 3(plus strand)

Gene: LOC101929298, uncharacterized LOC101929298(minus strand): 2KB Upstream Variant

Population Frequency

P-Value

eQTL of rs1848035 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1848035 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)