Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:52647524..52650136-chr5:52654127..52655864,2	MCF-7	breast:
2	chr5:52653991..52656439-chr5:52656965..52659829,2	MCF-7	breast:
3	chr5:52650697..52652220-chr5:52654154..52656158,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12188879	0.82[EUR][1000 genomes]
rs37791	0.96[ASN][1000 genomes]
rs37794	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37796	0.82[EUR][1000 genomes]
rs42970	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4865766	0.82[EUR][1000 genomes]
rs4865767	0.82[EUR][1000 genomes]
rs4865768	0.82[EUR][1000 genomes]
rs4865769	0.82[EUR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
2	chr5:52652200-52656600	Weak transcription	HUVEC	blood vessel
3	chr5:52653000-52655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:52654000-52656600	Enhancers	HepG2	liver
5	chr5:52654000-52658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:52654200-52662800	Enhancers	NHDF-Ad	bronchial
7	chr5:52654600-52655800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:52654600-52658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:52654600-52658400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:52654600-52658400	Enhancers	NH-A	brain
11	chr5:52654600-52658600	Enhancers	NHLF	lung
12	chr5:52654600-52660600	Enhancers	HSMM	muscle
13	chr5:52654600-52660800	Enhancers	Hela-S3	cervix
14	chr5:52654600-52660800	Enhancers	HMEC	breast
15	chr5:52654600-52662600	Enhancers	Osteobl	bone
16	chr5:52654800-52655400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:52654800-52656000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:52654800-52657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:52654800-52658600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:52655000-52658200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:52655000-52659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:52655000-52662000	Enhancers	NHEK	skin

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