Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148493864..148495641-chr4:148501917..148504541,2	MCF-7	breast:
2	chr4:148472369..148474455-chr4:148500978..148503721,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11737404	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56654057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59058452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6854574	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148499400-148507400	Weak transcription	NHDF-Ad	bronchial
2	chr4:148499600-148504400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:148499800-148503400	Weak transcription	A549	lung
4	chr4:148499800-148503400	Weak transcription	HSMM	muscle
5	chr4:148499800-148503400	Weak transcription	HSMMtube	muscle
6	chr4:148500000-148510800	Weak transcription	Ovary	ovary
7	chr4:148500200-148505000	Weak transcription	HUVEC	blood vessel
8	chr4:148501600-148505200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:148501600-148505400	Enhancers	HMEC	breast
10	chr4:148501800-148503000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:148501800-148503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:148501800-148503600	Enhancers	Osteobl	bone
13	chr4:148501800-148504000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:148501800-148504000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:148501800-148505400	Enhancers	Hela-S3	cervix
16	chr4:148502000-148502800	Weak transcription	NHEK	skin
17	chr4:148502200-148505400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:148502400-148503400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:148502400-148504000	Enhancers	K562	blood
20	chr4:148502600-148503200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:148502600-148503800	Enhancers	NHLF	lung

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