Variant report

Variant	esv3500808
Chromosome Location	chr10:1235589-1235983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr10:1235668-1235923	GM12878	blood:	n/a	n/a
2	CBX3	chr10:1235483-1236004	K562	blood:	n/a	n/a
3	E2F6	chr10:1235848-1236017	K562	blood:	n/a	n/a
4	E2F6	chr10:1235434-1235712	K562	blood:	n/a	n/a
5	E2F6	chr10:1235794-1236051	K562	blood:	n/a	n/a
6	E2F6	chr10:1235366-1236220	K562	blood:	n/a	n/a
7	IRF4	chr10:1235583-1235988	GM12878	blood:	n/a	n/a
8	MAX	chr10:1235743-1235760	NB4	blood:	n/a	n/a
9	MAX	chr10:1235273-1236335	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
10	MAX	chr10:1235685-1236079	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
11	MAX	chr10:1235784-1235988	K562	blood:	n/a	n/a
12	MAX	chr10:1235726-1235751	A549	lung:	n/a	chr10:1235738-1235748
13	MAX	chr10:1235543-1235723	K562	blood:	n/a	chr10:1235711-1235721
14	MYC	chr10:1235546-1236011	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
15	MYC	chr10:1235667-1235905	K562	blood:	n/a	chr10:1235765-1235775 chr10:1235711-1235721 chr10:1235738-1235748
16	POLR2A	chr10:1235485-1236074	GM12878	blood:	n/a	n/a
17	REST	chr10:1235623-1235887	U87	brain:	n/a	n/a
18	REST	chr10:1235530-1235912	U87	brain:	n/a	chr10:1235571-1235589
19	SPI1	chr10:1235631-1235837	K562	blood:	n/a	n/a
20	USF1	chr10:1235631-1235952	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:1235975-1236025	HepG2	liver:	n/a
2	chr10:1235975-1236025	K562	blood:	n/a
3	chr10:1235975-1236025	SK-N-SH	brain:	n/a
4	chr10:1235975-1236025	AG10803	skin:	n/a
5	chr10:1235975-1236025	NH-A	brain:	n/a
6	chr10:1235975-1236025	RPTEC	kidney:	n/a
7	chr10:1235975-1236025	HRPEpiC	eye:	n/a
8	chr10:1235975-1236025	GM19239	blood:	n/a
9	chr10:1235975-1236025	NB4	blood:	n/a
10	chr10:1235975-1236025	IMR90	lung:	fetal
11	chr10:1235975-1236025	ECC-1	luminal epithelium:	n/a
12	chr10:1235975-1236025	Hepatocyte	liver:	n/a
13	chr10:1235975-1236025	AG04450	lung:	fetal
14	chr10:1235975-1236025	LNCaP	prostate:	n/a
15	chr10:1235975-1236025	HIPEpiC	eye:	n/a
16	chr10:1235975-1236025	AG09319	gingival:	n/a
17	chr10:1235975-1236025	BE2_C	brain:	n/a
18	chr10:1235975-1236025	HMEC	breast:	n/a
19	chr10:1235975-1236025	SK-N-MC	brain:	n/a
20	chr10:1235975-1236025	HEEpiC	esophagus:	n/a
21	chr10:1235975-1236025	A549	lung:	n/a
22	chr10:1235975-1236025	HEK293	kidney:	embryo
23	chr10:1235975-1236025	U87	brain:	n/a
24	chr10:1235975-1236025	HPAEpiC	pulmonary alveolar:	n/a
25	chr10:1235975-1236025	H1-hESC	embryonic stem cell:	embryo
26	chr10:1235975-1236025	NT2-D1	testis:	n/a
27	chr10:1235975-1236025	NHBE	bronchial:	n/a
28	chr10:1235975-1236025	AG04449	skin:	fetal
29	chr10:1235975-1236025	ProgFib	skin:	n/a
30	chr10:1235975-1236025	HRCEpiC	kidney:	n/a
31	chr10:1235975-1236025	HAEpiC	amniotic membrane:	n/a
32	chr10:1235975-1236025	HRE	kidney:	n/a
33	chr10:1235975-1236025	NHDF-neo	bronchial:	n/a
34	chr10:1235975-1236025	HCM	heart:	n/a
35	chr10:1235975-1236025	PFSK-1	brain:	n/a
36	chr10:1235975-1236025	SAEC	small airway:	n/a
37	chr10:1235975-1236025	HL-60	blood:	n/a
38	chr10:1235975-1236025	SK-N-SH_RA	brain:	n/a
39	chr10:1235975-1236025	GM12892	blood:	n/a
40	chr10:1235975-1236025	HCPEpiC	choroid plexus:	n/a
41	chr10:1235975-1236025	GM06990	blood:	n/a
42	chr10:1235975-1236025	Caco-2	colon:	n/a
43	chr10:1235975-1236025	T-47D	breast:	n/a
44	chr10:1235975-1236025	Jurkat	blood:	n/a
45	chr10:1235975-1236025	MCF10A-Er-Src	breast:	n/a
46	chr10:1235975-1236025	GM12891	blood:	n/a
47	chr10:1235975-1236025	GM12878	blood:	n/a
48	chr10:1235975-1236025	SKMC	muscle:	n/a
49	chr10:1235975-1236025	Hela-S3	cervix:	n/a
50	chr10:1235975-1236025	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
ADARB2	TF binding region
ADARB2	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570562945	chr10:1235604-1235605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533135506	chr10:1235606-1235607	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556879137	chr10:1235638-1235639	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569786955	chr10:1235664-1235665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535720423	chr10:1235668-1235669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs116349949	chr10:1235669-1235670	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568106081	chr10:1235722-1235723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12241246	chr10:1235819-1235820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs71482841	chr10:1235846-1235847	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113489139	chr10:1235873-1235874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533941877	chr10:1235879-1235880	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs71507607	chr10:1235899-1235900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369577534	chr10:1235920-1235921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553802510	chr10:1235966-1235967	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1228200-1239000	Weak transcription	Primary T cells from cord blood	blood
2	chr10:1232200-1235600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:1232800-1239000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1233000-1235600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:1233400-1236000	Enhancers	Fetal Intestine Large	intestine
6	chr10:1233600-1236600	Enhancers	Brain Angular Gyrus	brain
7	chr10:1234200-1236200	Enhancers	Brain Anterior Caudate	brain
8	chr10:1234200-1238000	Enhancers	Brain Substantia Nigra	brain
9	chr10:1234200-1238400	Enhancers	Brain Hippocampus Middle	brain
10	chr10:1234200-1241600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:1234400-1236200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:1234600-1236000	Enhancers	Pancreas	Pancrea
13	chr10:1235200-1235800	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:1235400-1235600	Enhancers	Fetal Kidney	kidney
15	chr10:1235400-1241000	Weak transcription	Fetal Intestine Small	intestine
16	chr10:1235800-1239000	Weak transcription	Brain Cingulate Gyrus	brain

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