rs856843

Organism: Homo sapiens

Alleles: C>A / C>T

Gene : Feature

C8B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0086 (2588/29968,GnomAD)
A=0108 (3161/29118,TOPMED)
A=0089 (447/5008,1000G)
A=0048 (186/3854,ALSPAC)
A=0060 (223/3708,TWINSUK)

Position: chr1:56961578 (GRCh38.p7) (1p32.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 71 Enhancers around

Promoter: 15 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.56961578C>A
GRCh38.p7 chr 1	NC_000001.11:g.56961578C>T
GRCh37.p13 chr 1	NC_000001.10:g.57427251C>A
GRCh37.p13 chr 1	NC_000001.10:g.57427251C>T
C8B RefSeqGene	LRG_31
C8B RefSeqGene	LRG_31

Gene: C8B, complement component 8, beta polypeptide(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C8B transcript variant 1	NM_000066.3:c.	N/A	Intron Variant
C8B transcript variant 2	NM_001278543.1:c.	N/A	Intron Variant
C8B transcript variant 3	NM_001278544.1:c.	N/A	Intron Variant
C8B transcript variant X1	XM_017002235.1:c.	N/A	Intron Variant
C8B transcript variant X2	XR_001737397.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.793	A=0.207
1000Genomes	American	Sub	694	C=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	C=0.913	A=0.087
1000Genomes	Europe	Sub	1006	C=0.954	A=0.046
1000Genomes	Global	Study-wide	5008	C=0.911	A=0.089
1000Genomes	South Asian	Sub	978	C=0.980	A=0.020
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.952	A=0.048
The Genome Aggregation Database	African	Sub	8710	C=0.825	A=0.174
The Genome Aggregation Database	American	Sub	838	C=0.970	A=0.03,
The Genome Aggregation Database	East Asian	Sub	1622	C=0.927	A=0.073
The Genome Aggregation Database	Europe	Sub	18496	C=0.950	A=0.049
The Genome Aggregation Database	Global	Study-wide	29968	C=0.913	A=0.086
The Genome Aggregation Database	Other	Sub	302	C=0.970	A=0.03,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.891	A=0.108
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.940	A=0.060

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs856843	0.000996	alcohol dependence	21314694

eQTL of rs856843 in Brain tissues (GTEx Analysis Release V7)

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

meQTL of rs856843 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 )
chr1	68225446	68226524	E067	-40913
chr1	68257240	68258216	E067	-9221
chr1	68258360	68258481	E067	-8956
chr1	68258573	68258767	E067	-8670
chr1	68258799	68258966	E067	-8471
chr1	68315803	68316720	E067	48366
chr1	68231802	68232715	E068	-34722
chr1	68257019	68257173	E068	-10264
chr1	68257240	68258216	E068	-9221
chr1	68258360	68258481	E068	-8956
chr1	68258573	68258767	E068	-8670
chr1	68269180	68270180	E068	1743
chr1	68270272	68270322	E068	2835
chr1	68270549	68270621	E068	3112
chr1	68270776	68270872	E068	3339
chr1	68292710	68292952	E068	25273
chr1	68293491	68293583	E068	26054
chr1	68315803	68316720	E068	48366
chr1	68225446	68226524	E069	-40913
chr1	68231802	68232715	E069	-34722
chr1	68257240	68258216	E069	-9221
chr1	68258360	68258481	E069	-8956
chr1	68258573	68258767	E069	-8670
chr1	68258799	68258966	E069	-8471
chr1	68269180	68270180	E069	1743
chr1	68270272	68270322	E069	2835
chr1	68278706	68278756	E069	11269
chr1	68279879	68280517	E069	12442
chr1	68315803	68316720	E069	48366
chr1	68225446	68226524	E070	-40913
chr1	68230292	68230407	E070	-37030
chr1	68230450	68230641	E070	-36796
chr1	68231802	68232715	E070	-34722
chr1	68232767	68233209	E070	-34228
chr1	68244483	68244585	E070	-22852
chr1	68245094	68245144	E070	-22293
chr1	68258799	68258966	E070	-8471
chr1	68259248	68259603	E070	-7834
chr1	68259723	68259794	E070	-7643
chr1	68259863	68259917	E070	-7520
chr1	68279879	68280517	E070	12442
chr1	68257019	68257173	E071	-10264
chr1	68257240	68258216	E071	-9221
chr1	68258360	68258481	E071	-8956
chr1	68260797	68261103	E071	-6334
chr1	68261255	68261588	E071	-5849
chr1	68225446	68226524	E073	-40913
chr1	68258360	68258481	E073	-8956
chr1	68258573	68258767	E073	-8670
chr1	68258799	68258966	E073	-8471
chr1	68315803	68316720	E073	48366
chr1	68225446	68226524	E074	-40913
chr1	68257019	68257173	E074	-10264
chr1	68257240	68258216	E074	-9221
chr1	68258360	68258481	E074	-8956
chr1	68258573	68258767	E074	-8670
chr1	68258799	68258966	E074	-8471
chr1	68315803	68316720	E074	48366
chr1	68224911	68225012	E081	-42425
chr1	68230292	68230407	E081	-37030
chr1	68230450	68230641	E081	-36796
chr1	68231527	68231708	E081	-35729
chr1	68231802	68232715	E081	-34722
chr1	68236810	68237211	E081	-30226
chr1	68255928	68256218	E081	-11219
chr1	68256258	68256454	E081	-10983
chr1	68256499	68256549	E081	-10888
chr1	68257019	68257173	E081	-10264
chr1	68299767	68300197	E082	32330
chr1	68300236	68300553	E082	32799
chr1	68315803	68316720	E082	48366

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	68297093	68299618	E067	29656
chr1	68297093	68299618	E068	29656
chr1	68297093	68299618	E069	29656
chr1	68296729	68296872	E070	29292
chr1	68296894	68297080	E070	29457
chr1	68297093	68299618	E070	29656
chr1	68296729	68296872	E071	29292
chr1	68296894	68297080	E071	29457
chr1	68297093	68299618	E071	29656
chr1	68297093	68299618	E072	29656
chr1	68297093	68299618	E073	29656
chr1	68297093	68299618	E074	29656
chr1	68296729	68296872	E082	29292
chr1	68296894	68297080	E082	29457
chr1	68297093	68299618	E082	29656