Variant report

Variant	rs12612335
Chromosome Location	chr2:187566656-187566657
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187556991..187559370-chr2:187565562..187567253,3	MCF-7	breast:
2	chr2:187566620..187569156-chr2:187571445..187573222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144369	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	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10931254	0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123176	0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11678136	0.86[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11683459	0.86[CHB][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684356	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11684434	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11684626	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11695399	0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][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	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11903048	0.86[ASN][1000 genomes]
rs12614008	0.97[ASN][1000 genomes]
rs12617531	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12619357	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12621915	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828148	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16828163	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16828175	0.97[ASN][1000 genomes]
rs16828182	0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828214	0.86[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595389	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2887831	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3213963	0.93[ASN][1000 genomes]
rs36079004	0.83[ASN][1000 genomes]
rs3738919	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3768784	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3768787	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3795865	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3820739	0.85[ASN][1000 genomes]
rs3886170	0.84[CHB][hapmap];0.80[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	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72905169	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7584329	0.84[CHB][hapmap];0.92[EUR][1000 genomes];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:20 , 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	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
3	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
6	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:187563000-187570200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:187563600-187570000	Weak transcription	Fetal Brain Male	brain
9	chr2:187564200-187570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:187564800-187567000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:187564800-187569400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:187565000-187567400	Enhancers	Fetal Brain Female	brain
13	chr2:187565000-187570000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:187565400-187566800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:187566000-187568000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:187566600-187566800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:187566600-187567000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:187566600-187567200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:187566600-187567400	Enhancers	Brain Anterior Caudate	brain
20	chr2:187566600-187567400	Enhancers	Brain Substantia Nigra	brain

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