Variant report

Variant	rs2595375
Chromosome Location	chr2:187561806-187561807
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	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	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10174098	0.86[CHB][hapmap]
rs11678190	0.85[CHB][hapmap];0.98[GIH][hapmap];0.90[TSI][hapmap]
rs11683898	0.95[EUR][1000 genomes]
rs11685758	0.84[CHB][hapmap];0.98[GIH][hapmap];0.85[TSI][hapmap]
rs12151442	0.85[CHB][hapmap];0.98[GIH][hapmap];0.85[TSI][hapmap]
rs12615659	0.85[CHB][hapmap]
rs13001028	0.85[CHB][hapmap]
rs13006483	0.85[CHB][hapmap];0.85[TSI][hapmap]
rs13026081	0.85[TSI][hapmap]
rs13028817	0.85[CHB][hapmap]
rs13030356	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs1448424	0.85[CHB][hapmap]
rs17334422	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs17406339	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs35055112	0.96[EUR][1000 genomes]
rs36117902	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3768777	0.86[CHB][hapmap]
rs3816386	0.85[CHB][hapmap];0.98[GIH][hapmap];0.85[TSI][hapmap]
rs3911239	0.86[CHB][hapmap]
rs58644770	0.85[EUR][1000 genomes]
rs6717512	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs7419327	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs7589470	0.85[CHB][hapmap]
rs7593018	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9333289	0.85[CHB][hapmap];0.83[TSI][hapmap]
rs9333290	0.83[TSI][hapmap]
rs9789682	0.96[EUR][1000 genomes]
rs998972	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][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:28 , 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	chr2:187560600-187562000	Weak transcription	HUVEC	blood vessel
4	chr2:187560600-187562000	Weak transcription	NH-A	brain
5	chr2:187560600-187562200	Weak transcription	NHDF-Ad	bronchial
6	chr2:187560600-187563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
8	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
11	chr2:187560800-187562000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:187560800-187562000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:187560800-187562000	Weak transcription	Osteobl	bone
14	chr2:187560800-187562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:187560800-187563600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:187560800-187564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:187561400-187562400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:187561600-187562000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:187561600-187562200	Active TSS	Brain Angular Gyrus	brain
21	chr2:187561600-187562600	Active TSS	Fetal Brain Female	brain
22	chr2:187561600-187566000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:187561800-187562200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:187561800-187562400	Enhancers	Brain Anterior Caudate	brain
25	chr2:187561800-187562800	Weak transcription	Fetal Brain Male	brain
26	chr2:187561800-187563000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:187561800-187563600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:187561800-187565800	Enhancers	Cortex derived primary cultured neurospheres	brain

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