Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37787494..37789830-chr5:37791340..37793727,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11738696	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903732	0.85[EUR][1000 genomes]
rs17379667	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17386472	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56000387	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56053816	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358886	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358887	0.88[AMR][1000 genomes]
rs62358892	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62358893	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358917	0.88[AMR][1000 genomes]
rs62358922	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358923	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358924	0.82[EUR][1000 genomes]
rs62358925	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62358926	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358927	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358928	0.82[EUR][1000 genomes]
rs62358930	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358932	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358933	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62360366	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62360369	0.85[EUR][1000 genomes]
rs62360370	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62360371	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62360373	0.80[AMR][1000 genomes]
rs949859	0.80[AMR][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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37786000-37790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:37786600-37788800	Enhancers	Osteobl	bone
3	chr5:37787200-37793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:37787600-37789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:37787600-37790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:37787600-37791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:37787600-37792800	Weak transcription	NHLF	lung
8	chr5:37787800-37793000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:37788000-37790000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:37788000-37790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:37788000-37792800	Weak transcription	NH-A	brain
12	chr5:37788000-37793000	Weak transcription	HSMMtube	muscle
13	chr5:37788200-37792600	Weak transcription	NHDF-Ad	bronchial
14	chr5:37788200-37792800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:37788200-37793000	Weak transcription	HMEC	breast
16	chr5:37788400-37792800	Weak transcription	HSMM	muscle

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