Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47259078..47261834-chr12:47262406..47264893,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12810051	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12813857	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12832186	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2249315	0.88[EUR][1000 genomes]
rs2250202	0.91[EUR][1000 genomes]
rs2465203	0.88[EUR][1000 genomes]
rs2711696	0.88[EUR][1000 genomes]
rs2715780	0.88[EUR][1000 genomes]
rs34666797	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34881657	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35024790	0.83[AFR][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]
rs7310091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082941	0.83[EUR][1000 genomes]
rs74082948	0.83[EUR][1000 genomes]
rs74082953	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082963	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082966	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7980196	1.00[AFR][1000 genomes];1.00[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:3 , 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	chr12:47262800-47268000	Weak transcription	Aorta	Aorta
3	chr12:47264400-47268000	Weak transcription	Psoas Muscle	Psoas

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