Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:43326904-43328910	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:43305979..43308043-chr3:43325669..43327950,2	MCF-7	breast:
2	chr3:43314193..43316141-chr3:43325214..43327876,2	K562	blood:
3	chr3:43325116..43327718-chr3:43329418..43331490,2	K562	blood:

Variant related genes	Relation type
SNRK	TF binding region

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	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3420235	chr3:43326048-43330246	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:43318800-43327800	Weak transcription	Small Intestine	intestine
2	chr3:43321600-43327000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:43324000-43327200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:43325200-43327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:43326200-43327200	Weak transcription	NHEK	skin
6	chr3:43326200-43327400	Enhancers	Fetal Brain Male	brain
7	chr3:43326400-43327400	Enhancers	Adipose Nuclei	Adipose
8	chr3:43326400-43327600	Enhancers	HUVEC	blood vessel
9	chr3:43326600-43327000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:43326600-43327000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr3:43326600-43327000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr3:43326600-43327000	Bivalent Enhancer	HepG2	liver
13	chr3:43326600-43327200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:43326600-43327200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:43326600-43327200	Enhancers	Fetal Brain Female	brain
16	chr3:43326600-43327400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:43326600-43327400	Enhancers	Thymus	Thymus
18	chr3:43326800-43327400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr3:43326800-43327600	Enhancers	Fetal Thymus	thymus
20	chr3:43326800-43327600	Enhancers	Spleen	Spleen

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