Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117804326..117804994-chr12:117910584..117911095,2	MCF-7	breast:
2	chr12:117808217..117808933-chr12:117910612..117911733,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10507280	0.92[CHD][hapmap]
rs10774926	0.92[CHD][hapmap];0.86[GIH][hapmap]
rs1104862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1104863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068499	0.85[CHD][hapmap]
rs11068500	0.92[CHD][hapmap]
rs11068501	0.92[CHD][hapmap];0.86[GIH][hapmap]
rs11068503	0.89[JPT][hapmap]
rs11068505	0.92[ASN][1000 genomes]
rs11068506	0.91[ASN][1000 genomes]
rs1111578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11613545	0.92[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12304889	0.93[ASN][1000 genomes]
rs12813784	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12813801	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1580855	0.94[ASN][1000 genomes]
rs3861901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61071715	0.81[ASN][1000 genomes]
rs7133455	0.94[ASN][1000 genomes]
rs7298492	0.94[ASN][1000 genomes]
rs73210107	0.94[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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv899543	chr12:117882412-117925208	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117896000-117923800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:117898000-117921400	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117898800-117911600	Weak transcription	HUVEC	blood vessel
4	chr12:117903200-117919600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:117905000-117923800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:117909000-117913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:117909200-117910800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:117909200-117911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117909200-117919600	Weak transcription	A549	lung
10	chr12:117909200-117921400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:117909200-117925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:117909200-117925200	Weak transcription	Pancreas	Pancrea
13	chr12:117910400-117911000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:117910600-117911000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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