Variant report

Variant	rs36117902
Chromosome Location	chr2:187563456-187563457
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:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11678190	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11683898	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11685758	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12151442	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12615659	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12998294	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13001028	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13016261	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13027560	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13028817	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13030356	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13033579	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17334303	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17334422	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17406339	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1839123	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1839124	0.86[ASN][1000 genomes]
rs2084448	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2595375	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34483988	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34521209	0.85[ASN][1000 genomes]
rs35055112	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35251833	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35986780	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816386	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58644770	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717512	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7419327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589470	0.82[ASN][1000 genomes]
rs7593018	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789682	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998972	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
4	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
7	chr2:187560800-187563600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:187560800-187564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:187561600-187566000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:187561800-187563600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:187561800-187565800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:187562000-187563600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:187562200-187563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:187562400-187563600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:187562400-187563600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:187562400-187565200	Enhancers	Brain Substantia Nigra	brain
18	chr2:187562800-187565000	Weak transcription	Fetal Brain Female	brain
19	chr2:187563000-187563600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:187563000-187565400	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:187563000-187570200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:187563400-187563600	Enhancers	Fetal Brain Male	brain

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