Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210232168..210234903-chr2:210243196..210246928,4	MCF-7	breast:
2	chr2:210241309..210243466-chr2:210244244..210247181,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10497928	0.81[AFR][1000 genomes]
rs10497930	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11889422	0.91[EUR][1000 genomes]
rs17235072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17674661	0.81[AFR][1000 genomes]
rs17675086	0.84[AFR][1000 genomes]
rs17726336	0.87[EUR][1000 genomes]
rs34048155	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4435391	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56389925	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72990000	0.81[AFR][1000 genomes]
rs72991804	0.81[AFR][1000 genomes]
rs72991807	0.81[AFR][1000 genomes]
rs72991868	0.84[EUR][1000 genomes]
rs72993710	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993758	0.94[EUR][1000 genomes]
rs72995630	0.91[EUR][1000 genomes]
rs72995661	0.80[EUR][1000 genomes]
rs72995674	0.80[EUR][1000 genomes]
rs72995682	0.80[EUR][1000 genomes]
rs7587613	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592860	0.81[AFR][1000 genomes]
rs7606091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs992029	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr2:210242800-210247400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:210245000-210246800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:210246000-210246800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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