Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:
2	chr12:44393933..44394766-chr12:45324489..45325458,2	MCF-7	breast:

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

rs_ID	r²[population]
rs55996795	0.85[EUR][1000 genomes]
rs56070984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57065008	0.85[EUR][1000 genomes]
rs57781916	0.81[EUR][1000 genomes]
rs61202170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298388	0.85[EUR][1000 genomes]
rs73085745	0.89[EUR][1000 genomes]
rs73085755	0.85[EUR][1000 genomes]
rs73085780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091731	0.81[EUR][1000 genomes]
rs73091734	0.81[EUR][1000 genomes]
rs74084785	0.85[EUR][1000 genomes]
rs7979716	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44390000-44394400	Weak transcription	HepG2	liver
8	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
9	chr12:44394000-44394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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