rs10933849

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

LOC101929485 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0241 (7240/29946,GnomAD)
C==0293 (8538/29118,TOPMED)
C==0348 (1745/5008,1000G)
C==0169 (652/3854,ALSPAC)
C==0169 (626/3708,TWINSUK)

Position: chr3:106420954 (GRCh38.p7) (3q13.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 62 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.106420954C>T
GRCh37.p13 chr 3	NC_000003.11:g.106139801C>T

Gene: LOC101929485, uncharacterized LOC101929485(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101929485 transcript	XR_427393.3:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.439	T=0.561
1000Genomes	American	Sub	694	C=0.390	T=0.610
1000Genomes	East Asian	Sub	1008	C=0.405	T=0.595
1000Genomes	Europe	Sub	1006	C=0.164	T=0.836
1000Genomes	Global	Study-wide	5008	C=0.348	T=0.652
1000Genomes	South Asian	Sub	978	C=0.330	T=0.670
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.169	T=0.831
The Genome Aggregation Database	African	Sub	8716	C=0.399	T=0.601
The Genome Aggregation Database	American	Sub	838	C=0.410	T=0.590
The Genome Aggregation Database	East Asian	Sub	1608	C=0.379	T=0.621
The Genome Aggregation Database	Europe	Sub	18482	C=0.149	T=0.851
The Genome Aggregation Database	Global	Study-wide	29946	C=0.241	T=0.758
The Genome Aggregation Database	Other	Sub	302	C=0.180	T=0.820
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.293	T=0.706
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.169	T=0.831

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs10933849	0.000587	alcohol consumption (maxi-drinks)	24277619

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	106117812	106118046	E067	-21755
chr3	106118096	106118434	E067	-21367
chr3	106171052	106171156	E067	31251
chr3	106171477	106171551	E067	31676
chr3	106171742	106171933	E067	31941
chr3	106117812	106118046	E068	-21755
chr3	106118096	106118434	E068	-21367
chr3	106118689	106118840	E068	-20961
chr3	106171052	106171156	E068	31251
chr3	106171477	106171551	E068	31676
chr3	106171742	106171933	E068	31941
chr3	106099233	106099328	E069	-40473
chr3	106117812	106118046	E069	-21755
chr3	106118096	106118434	E069	-21367
chr3	106118689	106118840	E069	-20961
chr3	106171052	106171156	E069	31251
chr3	106171477	106171551	E069	31676
chr3	106171742	106171933	E069	31941
chr3	106098238	106098471	E070	-41330
chr3	106100376	106100520	E070	-39281
chr3	106100542	106100644	E070	-39157
chr3	106100913	106101190	E070	-38611
chr3	106101290	106101340	E070	-38461
chr3	106104999	106105208	E070	-34593
chr3	106117812	106118046	E070	-21755
chr3	106118096	106118434	E070	-21367
chr3	106118689	106118840	E070	-20961
chr3	106119027	106119099	E070	-20702
chr3	106171052	106171156	E070	31251
chr3	106171477	106171551	E070	31676
chr3	106171742	106171933	E070	31941
chr3	106117812	106118046	E071	-21755
chr3	106118096	106118434	E071	-21367
chr3	106118689	106118840	E071	-20961
chr3	106119027	106119099	E071	-20702
chr3	106168902	106168963	E071	29101
chr3	106170226	106170322	E071	30425
chr3	106171052	106171156	E071	31251
chr3	106171477	106171551	E071	31676
chr3	106171742	106171933	E071	31941
chr3	106176195	106176470	E071	36394
chr3	106117812	106118046	E072	-21755
chr3	106118096	106118434	E072	-21367
chr3	106118689	106118840	E072	-20961
chr3	106119027	106119099	E072	-20702
chr3	106120916	106121336	E072	-18465
chr3	106171052	106171156	E072	31251
chr3	106171477	106171551	E072	31676
chr3	106171742	106171933	E072	31941
chr3	106099233	106099328	E074	-40473
chr3	106117812	106118046	E074	-21755
chr3	106118096	106118434	E074	-21367
chr3	106118689	106118840	E074	-20961
chr3	106120650	106120771	E074	-19030
chr3	106171052	106171156	E074	31251
chr3	106171477	106171551	E074	31676
chr3	106171742	106171933	E074	31941
chr3	106099233	106099328	E081	-40473
chr3	106100261	106100341	E081	-39460
chr3	106100376	106100520	E081	-39281
chr3	106099233	106099328	E082	-40473
chr3	106118096	106118434	E082	-21367

rs10933849

Genomic Coordinates

Gene: LOC101929485, uncharacterized LOC101929485(minus strand)

Population Frequency

P-Value

eQTL of rs10933849 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs10933849 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)