Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74746733..74749613-chr4:74751019..74753569,2	K562	blood:

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs416046	0.82[AMR][1000 genomes]
rs56078309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62312441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62312442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62312449	1.00[AFR][1000 genomes];1.00[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74747600-74752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:74748200-74752000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:74749600-74756800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:74749600-74756800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:74750600-74752200	Enhancers	NHDF-Ad	bronchial
6	chr4:74750600-74752200	Enhancers	NHEK	skin
7	chr4:74751000-74752000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74751000-74752200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:74751000-74752200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:74751200-74752000	Enhancers	Osteobl	bone
11	chr4:74751200-74752200	Enhancers	K562	blood
12	chr4:74751200-74752200	Enhancers	NH-A	brain
13	chr4:74751400-74752000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:74751400-74752000	Enhancers	NHLF	lung
15	chr4:74751400-74752200	Enhancers	HMEC	breast
16	chr4:74751600-74752000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:74751600-74752000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:74751600-74752000	Enhancers	Left Ventricle	heart
19	chr4:74751600-74752200	Enhancers	A549	lung
20	chr4:74751800-74752600	Enhancers	Hela-S3	cervix

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