Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:81844556..81846296-chr4:81846383..81848047,2	K562	blood:

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

rs_ID	r²[population]
rs16998373	1.00[AFR][1000 genomes]
rs17005001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005003	1.00[AFR][1000 genomes]
rs17005006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005008	1.00[AMR][1000 genomes]
rs17005009	1.00[AFR][1000 genomes]
rs58584559	1.00[AFR][1000 genomes]
rs60281600	1.00[AFR][1000 genomes]
rs60356702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829187	1.00[AMR][1000 genomes]
rs73829197	1.00[AFR][1000 genomes]
rs73829199	1.00[AFR][1000 genomes]
rs73829202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831207	1.00[AFR][1000 genomes]
rs73831208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517072	chr4:81793825-81890350	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2763370	chr4:81800466-81866997	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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
5	esv3412549	chr4:81834479-81951850	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81846800-81853200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:81847200-81848400	Enhancers	NHDF-Ad	bronchial
3	chr4:81847400-81848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:81847400-81848400	Enhancers	NHEK	skin
5	chr4:81847600-81848000	Enhancers	GM12878-XiMat	blood
6	chr4:81847600-81848200	Enhancers	HMEC	breast
7	chr4:81847600-81849000	Enhancers	Ovary	ovary

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