Variant report

Variant	rs535558194
Chromosome Location	chr2:210636280-210636281
allele	A/C
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	REST	chr2:210636117-210636711	U87	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
3	REST	chr2:210636213-210636626	GM12878	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
4	REST	chr2:210636188-210636715	HCT-116	colon:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
5	ZBTB7A	chr2:210636220-210636786	ECC-1	luminal epithelium:	n/a	n/a
6	REST	chr2:210636157-210636879	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
7	REST	chr2:210636263-210636669	SK-N-SH	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
8	REST	chr2:210636213-210636921	HepG2	liver:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
9	MAX	chr2:210636201-210636750	SK-N-SH	brain:	n/a	chr2:210636566-210636576
10	CTBP2	chr2:210636161-210636997	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr2:210635897-210637208	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
12	MXI1	chr2:210635646-210638365	SK-N-SH	brain:	n/a	n/a
13	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
14	REST	chr2:210635814-210637140	HL-60	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
15	RAD21	chr2:210636234-210636720	ECC-1	luminal epithelium:	n/a	n/a
16	REST	chr2:210635915-210636952	MCF-7	breast:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
17	REST	chr2:210636132-210636790	A549	lung:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
18	SIN3AK20	chr2:210636253-210636620	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	REST	chr2:210636133-210636649	U87	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
21	REST	chr2:210635908-210637433	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
22	MAX	chr2:210636240-210636700	ECC-1	luminal epithelium:	n/a	chr2:210636566-210636576
23	TEAD4	chr2:210636160-210636794	A549	lung:	n/a	n/a
24	MXI1	chr2:210636210-210636799	IMR90	lung:	n/a	n/a
25	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
26	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
27	SIN3AK20	chr2:210636241-210636687	SK-N-SH	brain:	n/a	n/a
28	REST	chr2:210636163-210636930	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
29	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
30	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
31	REST	chr2:210636105-210636728	H1-hESC	embryonic stem cell:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
32	REST	chr2:210636105-210636838	K562	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
33	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
34	REST	chr2:210636130-210636922	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
35	REST	chr2:210636062-210636934	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
36	RAD21	chr2:210636199-210637039	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr2:210636174-210636414	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr2:210636020-210637466	H1-neurons	neurons:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
39	TEAD4	chr2:210636255-210636658	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr2:210636081-210636967	HL-60	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
41	EGR1	chr2:210636272-210636706	H1-hESC	embryonic stem cell:	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
42	ZBTB7A	chr2:210636264-210636753	ECC-1	luminal epithelium:	n/a	n/a
43	ZNF263	chr2:210635463-210636948	HEK293-T-REx	kidney:	n/a	chr2:210636601-210636610 chr2:210636693-210636702
44	REST	chr2:210636109-210636919	U87	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
45	CTCF	chr2:210636280-210636430	HCPEpiC	choroid plexus:	n/a	n/a
46	EGR1	chr2:210636225-210636768	H1-hESC	embryonic stem cell:	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
47	RAD21	chr2:210636148-210637221	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr2:210636195-210636666	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr2:210636076-210636975	HepG2	liver:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
50	POLR2A	chr2:210636107-210637463	H1-neurons	neurons:	n/a	n/a

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:90 , 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	chr2:210636000-210636400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr2:210636000-210636400	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr2:210636000-210636400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:210636000-210636400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:210636000-210636400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
8	chr2:210636000-210636400	Flanking Active TSS	Fetal Brain Male	brain
9	chr2:210636000-210636400	Active TSS	Fetal Kidney	kidney
10	chr2:210636000-210636400	Active TSS	NHDF-Ad	bronchial
11	chr2:210636000-210636800	Active TSS	Ovary	ovary
12	chr2:210636000-210637000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr2:210636000-210637000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:210636000-210637000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:210636000-210637000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:210636000-210637200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:210636000-210637400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:210636000-210637400	Active TSS	Brain Germinal Matrix	brain
19	chr2:210636000-210637400	Active TSS	Fetal Brain Female	brain
20	chr2:210636000-210637400	Active TSS	NH-A	brain
21	chr2:210636000-210637600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:210636000-210637600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:210636000-210637600	Active TSS	Brain Cingulate Gyrus	brain
24	chr2:210636000-210638000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:210636000-210638200	Active TSS	Brain Hippocampus Middle	brain
26	chr2:210636000-210638400	Active TSS	Brain Angular Gyrus	brain
27	chr2:210636200-210636400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:210636200-210636400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr2:210636200-210636400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:210636200-210636400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:210636200-210636400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:210636200-210636400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:210636200-210636400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:210636200-210636400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:210636200-210636400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
39	chr2:210636200-210636400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr2:210636200-210636400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:210636200-210636400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Liver	Liver
45	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr2:210636200-210636400	Bivalent Enhancer	Esophagus	oesophagus
48	chr2:210636200-210636400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:210636200-210636400	Flanking Active TSS	Fetal Heart	heart
50	chr2:210636200-210636400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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