Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52764717..52766418-chr5:52766575..52769260,2	K562	blood:

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

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	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	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6880850	NDUFS4	cis	cerebellum	SCAN
rs6880850	NDUFS4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52761600-52774400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:52764400-52766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:52765000-52766200	Enhancers	HepG2	liver
4	chr5:52765000-52769800	Enhancers	HMEC	breast
5	chr5:52765200-52768000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:52765200-52770000	Enhancers	NHEK	skin
7	chr5:52765400-52766400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:52765400-52766400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:52765400-52766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:52765400-52766800	Enhancers	NHLF	lung
11	chr5:52765600-52766800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:52765600-52766800	Enhancers	HSMM	muscle
13	chr5:52765600-52767800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:52765800-52766000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:52765800-52766200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:52765800-52766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:52765800-52766200	Enhancers	NHDF-Ad	bronchial
18	chr5:52765800-52766400	Enhancers	Osteobl	bone
19	chr5:52765800-52766600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:52765800-52766800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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