Variant report

Variant	rs2497694
Chromosome Location	chr10:116404629-116404630
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	chr10:116404550..116406229-chr4:106628340..106629882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138785	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1116508	1.00[EUR][1000 genomes]
rs11812214	1.00[EUR][1000 genomes]
rs17092411	1.00[EUR][1000 genomes]
rs2146804	1.00[EUR][1000 genomes]
rs2483538	1.00[CEU][hapmap]
rs56844582	1.00[EUR][1000 genomes]
rs56859887	1.00[EUR][1000 genomes]
rs57025690	1.00[EUR][1000 genomes]
rs57201267	1.00[EUR][1000 genomes]
rs57551865	1.00[EUR][1000 genomes]
rs57627999	1.00[EUR][1000 genomes]
rs57955640	1.00[EUR][1000 genomes]
rs58043949	1.00[EUR][1000 genomes]
rs58167147	1.00[EUR][1000 genomes]
rs58206173	1.00[EUR][1000 genomes]
rs58366976	1.00[EUR][1000 genomes]
rs59660416	1.00[EUR][1000 genomes]
rs60092663	1.00[EUR][1000 genomes]
rs60163199	1.00[EUR][1000 genomes]
rs60266547	1.00[EUR][1000 genomes]
rs60297453	1.00[EUR][1000 genomes]
rs60410790	1.00[EUR][1000 genomes]
rs60690229	1.00[EUR][1000 genomes]
rs60738938	1.00[EUR][1000 genomes]
rs60805990	1.00[EUR][1000 genomes]
rs61207042	1.00[EUR][1000 genomes]
rs6585291	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6585292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7073481	1.00[EUR][1000 genomes]
rs7087895	1.00[EUR][1000 genomes]
rs7093074	1.00[EUR][1000 genomes]
rs7093923	1.00[EUR][1000 genomes]
rs7095508	1.00[EUR][1000 genomes]
rs7095664	1.00[EUR][1000 genomes]
rs7097805	1.00[EUR][1000 genomes]
rs7100519	1.00[EUR][1000 genomes]
rs7101145	1.00[EUR][1000 genomes]
rs73357605	1.00[EUR][1000 genomes]
rs73357608	1.00[EUR][1000 genomes]
rs73357614	1.00[EUR][1000 genomes]
rs73357618	1.00[EUR][1000 genomes]
rs73357630	1.00[EUR][1000 genomes]
rs73361960	1.00[EUR][1000 genomes]
rs73361970	1.00[EUR][1000 genomes]
rs73361981	1.00[EUR][1000 genomes]
rs73361987	1.00[EUR][1000 genomes]
rs73362028	1.00[EUR][1000 genomes]
rs73362046	1.00[EUR][1000 genomes]
rs73362055	1.00[EUR][1000 genomes]
rs73362058	1.00[EUR][1000 genomes]
rs73362061	1.00[EUR][1000 genomes]
rs73362073	1.00[EUR][1000 genomes]
rs73362074	1.00[EUR][1000 genomes]
rs73362835	1.00[EUR][1000 genomes]
rs73362837	1.00[EUR][1000 genomes]
rs73362841	1.00[EUR][1000 genomes]
rs73362848	1.00[EUR][1000 genomes]
rs73363907	1.00[EUR][1000 genomes]
rs73363913	1.00[EUR][1000 genomes]
rs73363916	1.00[EUR][1000 genomes]
rs73371868	1.00[EUR][1000 genomes]
rs73371874	1.00[EUR][1000 genomes]
rs73371876	1.00[EUR][1000 genomes]
rs73371880	1.00[EUR][1000 genomes]
rs73371883	1.00[EUR][1000 genomes]
rs73371890	1.00[EUR][1000 genomes]
rs73371894	1.00[EUR][1000 genomes]
rs73373705	1.00[EUR][1000 genomes]
rs73373708	1.00[EUR][1000 genomes]
rs73373750	1.00[EUR][1000 genomes]
rs73373754	1.00[EUR][1000 genomes]
rs73373756	1.00[EUR][1000 genomes]
rs73373760	1.00[EUR][1000 genomes]
rs74158019	1.00[EUR][1000 genomes]
rs7899192	1.00[EUR][1000 genomes]
rs7899950	1.00[CEU][hapmap]
rs7907892	1.00[EUR][1000 genomes]
rs7916231	1.00[CEU][hapmap];1.00[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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116393600-116405800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:116395800-116408400	Weak transcription	Psoas Muscle	Psoas
4	chr10:116396200-116408800	Weak transcription	Esophagus	oesophagus
5	chr10:116397200-116409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:116399200-116410400	Weak transcription	Brain Angular Gyrus	brain
7	chr10:116399600-116404800	Weak transcription	Fetal Lung	lung
8	chr10:116399600-116408600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:116399800-116413800	Weak transcription	Spleen	Spleen
10	chr10:116400000-116406000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:116400200-116405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:116400200-116408600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:116402000-116408400	Weak transcription	Right Ventricle	heart
14	chr10:116402800-116407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:116402800-116407000	Weak transcription	HMEC	breast
16	chr10:116403000-116405000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:116403000-116408000	Weak transcription	Stomach Mucosa	stomach
18	chr10:116403200-116407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:116403200-116408000	Weak transcription	Adipose Nuclei	Adipose
20	chr10:116403200-116412200	Weak transcription	Brain Anterior Caudate	brain
21	chr10:116404000-116404800	Enhancers	Lung	lung
22	chr10:116404000-116405200	Enhancers	Left Ventricle	heart
23	chr10:116404200-116405600	Enhancers	HUVEC	blood vessel
24	chr10:116404400-116404800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr10:116404400-116405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:116404400-116405200	Enhancers	NHEK	skin
27	chr10:116404400-116407400	Enhancers	A549	lung
28	chr10:116404400-116409400	Weak transcription	Gastric	stomach
29	chr10:116404400-116411000	Enhancers	Fetal Heart	heart
30	chr10:116404600-116405000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:116404600-116405000	Enhancers	Pancreas	Pancrea
32	chr10:116404600-116405200	Enhancers	Right Atrium	heart
33	chr10:116404600-116406200	Enhancers	Liver	Liver
34	chr10:116404600-116406400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:116404600-116411200	Enhancers	Rectal Mucosa Donor 31	rectum

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