Variant report

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133474847-133476583	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:133470213-133490385	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:133471573-133479086	HepG2	liver:	n/a	n/a
4	HEY1	chr3:133470261-133482084	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:133475253-133475559	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:133471516-133487597	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:133464423-133479250	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:133470633-133487808	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:133471473-133476552	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133465852..133469783-chr3:133471795..133476120,4	K562	blood:
2	chr3:133425971..133428369-chr3:133473525..133475765,2	MCF-7	breast:
3	chr3:133475218..133478981-chr3:133481312..133484055,3	K562	blood:
4	chr3:133465852..133468285-chr3:133474499..133477437,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244062	TF binding region
ENSG00000091513	Chromatin interaction

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41298277	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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3380897	chr3:133473262-133477260	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133469600-133476400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
6	chr3:133472000-133476400	Enhancers	Esophagus	oesophagus
7	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
8	chr3:133473000-133476800	Strong transcription	Brain Anterior Caudate	brain
9	chr3:133473200-133476200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:133473400-133476000	Strong transcription	Adipose Nuclei	Adipose
11	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr3:133473800-133476200	Weak transcription	HMEC	breast
13	chr3:133473800-133478200	Strong transcription	Liver	Liver
14	chr3:133474000-133475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:133474000-133480200	Strong transcription	Brain Hippocampus Middle	brain
16	chr3:133474200-133475600	Weak transcription	NHEK	skin
17	chr3:133474800-133476400	Strong transcription	Brain Substantia Nigra	brain
18	chr3:133475000-133487000	Weak transcription	Fetal Brain Male	brain
19	chr3:133475200-133480800	Strong transcription	HepG2	liver
20	chr3:133475200-133482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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