Variant report

Variant	rs2218911
Chromosome Location	chr8:63371016-63371017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63153468..63155828-chr8:63369225..63371318,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10104622	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13266781	0.80[EUR][1000 genomes]
rs13267568	0.80[EUR][1000 genomes]
rs13267809	0.93[EUR][1000 genomes]
rs1551199	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2167499	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2198219	1.00[EUR][1000 genomes]
rs2351662	0.93[EUR][1000 genomes]
rs2351664	0.93[EUR][1000 genomes]
rs2351665	0.93[EUR][1000 genomes]
rs2351666	0.93[EUR][1000 genomes]
rs2351668	0.93[EUR][1000 genomes]
rs2351669	0.93[EUR][1000 genomes]
rs2351670	0.93[EUR][1000 genomes]
rs2351671	0.93[EUR][1000 genomes]
rs2351672	0.93[EUR][1000 genomes]
rs2351674	0.80[EUR][1000 genomes]
rs2351676	0.93[EUR][1000 genomes]
rs2351943	0.86[EUR][1000 genomes]
rs2882745	0.93[EUR][1000 genomes]
rs4442139	0.93[EUR][1000 genomes]
rs4595118	0.93[EUR][1000 genomes]
rs4737601	0.93[EUR][1000 genomes]
rs4737602	0.93[EUR][1000 genomes]
rs4737603	0.93[EUR][1000 genomes]
rs4738960	0.93[EUR][1000 genomes]
rs4738961	0.93[EUR][1000 genomes]
rs4738962	0.93[EUR][1000 genomes]
rs6472010	0.93[EUR][1000 genomes]
rs6472011	0.93[EUR][1000 genomes]
rs6472012	0.93[EUR][1000 genomes]
rs6472013	0.93[EUR][1000 genomes]
rs6472025	0.93[EUR][1000 genomes]
rs6472027	0.93[EUR][1000 genomes]
rs6991069	0.93[EUR][1000 genomes]
rs6993342	0.93[EUR][1000 genomes]
rs6999222	0.93[EUR][1000 genomes]
rs7011126	0.93[EUR][1000 genomes]
rs7819648	0.93[EUR][1000 genomes]
rs7819669	0.93[EUR][1000 genomes]
rs7837633	0.93[EUR][1000 genomes]
rs9298063	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1024863	chr8:63275987-63439650	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539636	chr8:63275987-63439650	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv982137	chr8:63277579-63399979	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv831339	chr8:63312449-63501127	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2218911	EGR1	trans	brain	seeQTL
rs2218911	GADD45G	trans	brain	seeQTL
rs2218911	PTGS2	trans	brain	seeQTL
rs2218911	CCL4	trans	brain	seeQTL
rs2218911	EGR2	trans	brain	seeQTL
rs2218911	FOSB	trans	brain	seeQTL
rs2218911	EGR4	trans	brain	seeQTL
rs2218911	CAPS	trans	brain	seeQTL
rs2218911	CCL3	trans	brain	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63368200-63374600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63370400-63372000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:63370600-63372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:63370600-63373400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:63370600-63374200	Enhancers	Fetal Intestine Large	intestine
6	chr8:63371000-63371400	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links