Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56252554..56257772-chr4:56259709..56263846,8	MCF-7	breast:
2	chr4:56248842..56251653-chr4:56256154..56258129,2	K562	blood:

Variant related genes	Relation type
ENSG00000249700	Chromatin interaction
ENSG00000134851	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10010919	0.95[AFR][1000 genomes]
rs10013154	0.85[EUR][1000 genomes]
rs10016977	0.80[AFR][1000 genomes]
rs10026202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031345	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10155441	0.95[AFR][1000 genomes]
rs11724300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729403	0.92[AMR][1000 genomes]
rs11732684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369166	0.95[AFR][1000 genomes]
rs28375967	0.85[EUR][1000 genomes]
rs28391333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418730	0.95[AFR][1000 genomes]
rs28588862	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28606621	0.80[AFR][1000 genomes]
rs28653645	0.85[EUR][1000 genomes]
rs28712413	0.80[AFR][1000 genomes]
rs28873832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34101807	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7356345	1.00[AMR][1000 genomes];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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:56248000-56259400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:56248200-56261400	Weak transcription	Aorta	Aorta
5	chr4:56249200-56261200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:56252200-56256800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:56252400-56261600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:56252600-56257400	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:56252600-56257400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:56254000-56261400	Weak transcription	Fetal Thymus	thymus
11	chr4:56254200-56256600	Weak transcription	Pancreas	Pancrea
12	chr4:56255600-56257800	Enhancers	K562	blood
13	chr4:56256000-56261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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