Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47266835..47268379-chr12:47268939..47270586,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12810051	0.88[EUR][1000 genomes]
rs12813857	0.88[EUR][1000 genomes]
rs12832186	0.86[EUR][1000 genomes]
rs2249315	0.88[EUR][1000 genomes]
rs2250202	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2465203	0.88[EUR][1000 genomes]
rs2711696	0.88[EUR][1000 genomes]
rs2715780	0.88[EUR][1000 genomes]
rs34666797	0.90[EUR][1000 genomes]
rs34881657	0.90[EUR][1000 genomes]
rs35024790	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56229259	0.83[EUR][1000 genomes]
rs56403430	0.83[EUR][1000 genomes]
rs59977082	0.83[EUR][1000 genomes]
rs7132156	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310091	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082941	0.83[EUR][1000 genomes]
rs74082948	0.83[EUR][1000 genomes]
rs74082963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7980196	0.88[AMR][1000 genomes];1.00[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899054	chr12:47224325-47280079	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47260200-47270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47268000-47269400	Enhancers	HSMM	muscle
3	chr12:47268200-47270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:47268600-47269400	Enhancers	Right Ventricle	heart
5	chr12:47268800-47270800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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