Variant report

Variant	rs558069830
Chromosome Location	chr2:210636479-210636480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:210636279-210636577	MCF-7	breast:	n/a	n/a
2	MYC	chr2:210636445-210636484	HUVEC	blood vessel:	n/a	n/a
3	REST	chr2:210636117-210636711	U87	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
4	REST	chr2:210636213-210636626	GM12878	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
5	REST	chr2:210636188-210636715	HCT-116	colon:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
6	ZBTB7A	chr2:210636220-210636786	ECC-1	luminal epithelium:	n/a	n/a
7	EGR1	chr2:210636378-210636559	GM12878	blood:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
8	REST	chr2:210636157-210636879	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
9	REST	chr2:210636263-210636669	SK-N-SH	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
10	REST	chr2:210636213-210636921	HepG2	liver:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
11	MAX	chr2:210636201-210636750	SK-N-SH	brain:	n/a	chr2:210636566-210636576
12	CTBP2	chr2:210636161-210636997	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr2:210636296-210636725	HCT-116	colon:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
14	REST	chr2:210635897-210637208	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
15	MXI1	chr2:210635646-210638365	SK-N-SH	brain:	n/a	n/a
16	REST	chr2:210636041-210637083	SK-N-SH	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
17	EGR1	chr2:210636289-210636799	MCF-7	breast:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
18	EP300	chr2:210636288-210636773	SK-N-SH_RA	brain:	n/a	chr2:210636480-210636496 chr2:210636534-210636543
19	REST	chr2:210635814-210637140	HL-60	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
20	RAD21	chr2:210636234-210636720	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr2:210635915-210636952	MCF-7	breast:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
22	SIN3AK20	chr2:210636386-210636599	SK-N-SH	brain:	n/a	n/a
23	RCOR1	chr2:210636327-210636631	K562	blood:	n/a	n/a
24	REST	chr2:210636132-210636790	A549	lung:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
25	SIN3AK20	chr2:210636253-210636620	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr2:210636240-210636831	ECC-1	luminal epithelium:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
27	REST	chr2:210636133-210636649	U87	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
28	REST	chr2:210635908-210637433	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
29	MAX	chr2:210636240-210636700	ECC-1	luminal epithelium:	n/a	chr2:210636566-210636576
30	YY1	chr2:210636403-210636951	SK-N-SH	brain:	n/a	chr2:210636640-210636651 chr2:210636480-210636494 chr2:210636610-210636632 chr2:210636907-210636921 chr2:210636609-210636621 chr2:210636534-210636543
31	FOXP2	chr2:210636326-210636627	PFSK-1	brain:	n/a	n/a
32	TEAD4	chr2:210636160-210636794	A549	lung:	n/a	n/a
33	ATF2	chr2:210636284-210636620	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr2:210636210-210636799	IMR90	lung:	n/a	n/a
35	YY1	chr2:210636261-210636932	SK-N-SH_RA	brain:	n/a	chr2:210636640-210636651 chr2:210636480-210636494 chr2:210636610-210636632 chr2:210636907-210636921 chr2:210636609-210636621 chr2:210636534-210636543
36	REST	chr2:210636104-210636944	SK-N-SH	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
37	SIN3AK20	chr2:210636241-210636687	SK-N-SH	brain:	n/a	n/a
38	REST	chr2:210636163-210636930	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
39	REST	chr2:210636004-210636967	ECC-1	luminal epithelium:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
40	YY1	chr2:210636340-210636899	SK-N-SH_RA	brain:	n/a	chr2:210636640-210636651 chr2:210636480-210636494 chr2:210636610-210636632 chr2:210636609-210636621 chr2:210636534-210636543
41	MYC	chr2:210636380-210636533	MCF-7	breast:	n/a	n/a
42	EGR1	chr2:210636161-210636768	MCF-7	breast:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
43	ZNF143	chr2:210636468-210636609	K562	blood:	n/a	chr2:210636480-210636490
44	REST	chr2:210636105-210636728	H1-hESC	embryonic stem cell:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
45	REST	chr2:210636105-210636838	K562	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
46	MXI1	chr2:210636308-210636593	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr2:210636081-210636922	H1-hESC	embryonic stem cell:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
48	JUND	chr2:210636380-210636611	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr2:210636130-210636922	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
50	EGR1	chr2:210636404-210636618	GM12878	blood:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542

Variant related genes	Relation type
UNC80	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3417338	chr2:210635907-210637905	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210635600-210637200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:210635800-210637200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:210636000-210636800	Active TSS	Ovary	ovary
4	chr2:210636000-210637000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr2:210636000-210637000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:210636000-210637000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:210636000-210637000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:210636000-210637200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:210636000-210637400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:210636000-210637400	Active TSS	Brain Germinal Matrix	brain
11	chr2:210636000-210637400	Active TSS	Fetal Brain Female	brain
12	chr2:210636000-210637400	Active TSS	NH-A	brain
13	chr2:210636000-210637600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:210636000-210637600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:210636000-210637600	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:210636000-210638000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:210636000-210638200	Active TSS	Brain Hippocampus Middle	brain
18	chr2:210636000-210638400	Active TSS	Brain Angular Gyrus	brain
19	chr2:210636200-210636600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:210636200-210636600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:210636200-210636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:210636200-210636600	Bivalent Enhancer	Small Intestine	intestine
23	chr2:210636200-210636600	Bivalent/Poised TSS	A549	lung
24	chr2:210636200-210636800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr2:210636200-210636800	Active TSS	Aorta	Aorta
26	chr2:210636200-210636800	Enhancers	Placenta	Placenta
27	chr2:210636200-210636800	Active TSS	Pancreas	Pancrea
28	chr2:210636200-210636800	Active TSS	Right Atrium	heart
29	chr2:210636200-210636800	Active TSS	HSMMtube	muscle
30	chr2:210636200-210637000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:210636200-210637000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:210636200-210637000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:210636200-210637000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:210636200-210637000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr2:210636200-210637000	Enhancers	Gastric	stomach
36	chr2:210636200-210637000	Bivalent Enhancer	Lung	lung
37	chr2:210636200-210637000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:210636200-210637000	Bivalent Enhancer	Spleen	Spleen
39	chr2:210636200-210637000	Active TSS	HSMM	muscle
40	chr2:210636200-210637200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:210636200-210637200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:210636200-210637200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:210636200-210637200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:210636200-210637200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:210636200-210637400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr2:210636400-210636600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:210636400-210636600	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr2:210636400-210636600	Bivalent Enhancer	Left Ventricle	heart
49	chr2:210636400-210636600	Active TSS	Right Ventricle	heart
50	chr2:210636400-210636600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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