Variant report

Variant	rs11695399
Chromosome Location	chr2:187562355-187562356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:187562298-187562623	MCF10A-Er-Src	breast:	n/a	chr2:187562471-187562482
2	FOS	chr2:187562284-187562656	MCF10A-Er-Src	breast:	n/a	chr2:187562471-187562482
3	FOS	chr2:187562269-187562662	MCF10A-Er-Src	breast:	n/a	chr2:187562471-187562482
4	GATA2	chr2:187562320-187562630	HUVEC	blood vessel:	n/a	chr2:187562482-187562491 chr2:187562480-187562492 chr2:187562478-187562494 chr2:187562477-187562491
5	JUND	chr2:187562338-187562509	HepG2	liver:	n/a	n/a
6	FOS	chr2:187562279-187562661	HUVEC	blood vessel:	n/a	chr2:187562471-187562482

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187558802..187560335-chr2:187560893..187563690,2	MCF-7	breast:
2	chr2:187560603..187562603-chr2:187566920..187568665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227227	TF binding region
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10931252	1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs10931254	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123176	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11678136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11683459	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11684356	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs11684434	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11684626	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11885414	0.97[ASN][1000 genomes]
rs11885416	0.97[ASN][1000 genomes]
rs11886619	0.97[ASN][1000 genomes]
rs11891192	0.97[ASN][1000 genomes]
rs11891461	0.97[ASN][1000 genomes]
rs11902171	1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs11903048	0.86[ASN][1000 genomes]
rs12612335	0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614008	0.97[ASN][1000 genomes]
rs12617531	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12619357	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12621915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828148	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs16828163	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs16828175	0.97[ASN][1000 genomes]
rs16828182	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2595389	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2887831	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs3213963	0.93[ASN][1000 genomes]
rs36079004	0.83[ASN][1000 genomes]
rs3738919	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3768784	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs3768787	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs3795865	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs3820739	0.85[ASN][1000 genomes]
rs3886170	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58757504	0.93[ASN][1000 genomes]
rs61762241	0.85[ASN][1000 genomes]
rs61764186	0.95[ASN][1000 genomes]
rs61764188	0.95[ASN][1000 genomes]
rs61764575	0.95[ASN][1000 genomes]
rs61764576	0.97[ASN][1000 genomes]
rs61764580	0.97[ASN][1000 genomes]
rs61765186	0.88[ASN][1000 genomes]
rs72905143	0.97[ASN][1000 genomes]
rs72905150	0.97[ASN][1000 genomes]
rs72905152	0.97[ASN][1000 genomes]
rs72905154	0.88[ASN][1000 genomes]
rs72905160	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72905169	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7584329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.90[ASN][1000 genomes]
rs7589682	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187558000-187563000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:187560600-187563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
5	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
8	chr2:187560800-187563600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:187560800-187564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:187561400-187562400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:187561600-187562600	Active TSS	Fetal Brain Female	brain
13	chr2:187561600-187566000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:187561800-187562400	Enhancers	Brain Anterior Caudate	brain
15	chr2:187561800-187562800	Weak transcription	Fetal Brain Male	brain
16	chr2:187561800-187563000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:187561800-187563600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:187561800-187565800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:187562000-187563000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:187562000-187563000	Enhancers	NH-A	brain
21	chr2:187562000-187563000	Enhancers	Osteobl	bone
22	chr2:187562000-187563600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:187562200-187562400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:187562200-187562400	Enhancers	Brain Angular Gyrus	brain
25	chr2:187562200-187562400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:187562200-187562400	Enhancers	HUVEC	blood vessel
27	chr2:187562200-187562400	Enhancers	NHEK	skin
28	chr2:187562200-187562600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:187562200-187562800	Enhancers	NHDF-Ad	bronchial
30	chr2:187562200-187563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:187562200-187563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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