Variant report

Variant	rs536195392
Chromosome Location	chr3:56590455-56590456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:56590331-56590529	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:56590356-56592659	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr3:56590354-56590729	K562	blood:	n/a	n/a
4	REST	chr3:56590444-56592120	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr3:56590174-56592533	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:56589231..56591997-chr3:56715959..56718849,3	K562	blood:
2	chr3:56588153..56590621-chr3:56591371..56592977,2	K562	blood:
3	chr3:56588808..56592620-chr3:56662133..56663692,3	K562	blood:
4	chr3:56589586..56592975-chr3:56714350..56719200,6	K562	blood:
5	chr17:61042877..61045351-chr3:56589650..56591304,2	MCF-7	breast:
6	chr3:56589716..56592620-chr3:56662133..56663652,2	K562	blood:

No data

Variant related genes	Relation type
CCDC66	TF binding region
ENSG00000163946	Chromatin interaction
ENSG00000263931	Chromatin interaction
ENSG00000180376	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3417076	chr3:56590062-56591960	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56590000-56592000	Active TSS	NHDF-Ad	bronchial
2	chr3:56590200-56590600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:56590200-56590600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr3:56590200-56591800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:56590200-56592000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:56590200-56592000	Active TSS	Duodenum Mucosa	Duodenum
7	chr3:56590200-56592000	Active TSS	Fetal Heart	heart
8	chr3:56590200-56592000	Active TSS	Fetal Kidney	kidney
9	chr3:56590200-56592600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:56590200-56592600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:56590200-56592600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr3:56590200-56592600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:56590400-56590600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr3:56590400-56590600	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:56590400-56590600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:56590400-56590600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:56590400-56590600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:56590400-56590600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr3:56590400-56590600	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr3:56590400-56590600	Flanking Active TSS	Dnd41	blood
21	chr3:56590400-56590600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr3:56590400-56590800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:56590400-56590800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr3:56590400-56590800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:56590400-56590800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:56590400-56590800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:56590400-56590800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:56590400-56590800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:56590400-56591200	Active TSS	Primary hematopoietic stem cells	blood
30	chr3:56590400-56591200	Active TSS	HepG2	liver
31	chr3:56590400-56591400	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr3:56590400-56591400	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr3:56590400-56591400	Active TSS	Adipose Nuclei	Adipose
34	chr3:56590400-56591800	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr3:56590400-56591800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:56590400-56591800	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr3:56590400-56591800	Active TSS	Liver	Liver
38	chr3:56590400-56591800	Active TSS	Brain Substantia Nigra	brain
39	chr3:56590400-56591800	Active TSS	Colon Smooth Muscle	Colon
40	chr3:56590400-56591800	Active TSS	Fetal Brain Male	brain
41	chr3:56590400-56591800	Active TSS	Fetal Lung	lung
42	chr3:56590400-56591800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:56590400-56591800	Active TSS	Rectal Smooth Muscle	rectum
44	chr3:56590400-56591800	Active TSS	HSMMtube	muscle
45	chr3:56590400-56592000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:56590400-56592000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:56590400-56592000	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr3:56590400-56592000	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr3:56590400-56592000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr3:56590400-56592000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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