Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:81953825..81956176-chr4:81958029..81960138,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1495640	1.00[EUR][1000 genomes]
rs1495641	1.00[EUR][1000 genomes]
rs1495642	1.00[EUR][1000 genomes]
rs1994991	1.00[EUR][1000 genomes]
rs1994993	1.00[EUR][1000 genomes]
rs1994994	1.00[EUR][1000 genomes]
rs2643919	1.00[EUR][1000 genomes]
rs2643920	1.00[EUR][1000 genomes]
rs2643924	1.00[EUR][1000 genomes]
rs2685465	1.00[EUR][1000 genomes]
rs2685470	1.00[EUR][1000 genomes]
rs2685472	1.00[EUR][1000 genomes]
rs2685473	1.00[EUR][1000 genomes]
rs2685475	1.00[EUR][1000 genomes]
rs55807732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57430976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58052426	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59633314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842249	1.00[EUR][1000 genomes]
rs72868561	1.00[EUR][1000 genomes]
rs73831262	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7659603	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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1006466	chr4:81888983-82009675	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr4:81951200-81955400	Active TSS	Rectal Smooth Muscle	rectum
2	chr4:81953200-81955200	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr4:81953200-81955400	Active TSS	Fetal Stomach	stomach
4	chr4:81953200-81956200	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:81953400-81955400	Active TSS	Brain Germinal Matrix	brain
6	chr4:81953600-81955000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr4:81953600-81955000	Active TSS	Primary B cells from cord blood	blood
8	chr4:81953600-81955400	Active TSS	Colon Smooth Muscle	Colon
9	chr4:81954000-81955000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:81954800-81955000	Bivalent/Poised TSS	Fetal Lung	lung
11	chr4:81954800-81955000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:81954800-81960200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:81954800-81960200	Weak transcription	Ovary	ovary

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