Variant report

Variant	esv3360072
Chromosome Location	chr9:102483790-102483996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102482457..102484656-chr9:102484731..102487139,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 69 )

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	rs562940232	chr9:102483876-102483877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183204583	chr9:102483920-102483921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545364936	chr9:102483939-102483940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102481800-102488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:102483000-102489800	Weak transcription	Aorta	Aorta
3	chr9:102483200-102483800	Enhancers	Dnd41	blood
4	chr9:102483200-102485000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr9:102483200-102485000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:102483200-102485000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:102483200-102485000	Weak transcription	Fetal Thymus	thymus
8	chr9:102483200-102485200	Weak transcription	Thymus	Thymus
9	chr9:102483200-102485800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr9:102483200-102489000	Weak transcription	Right Atrium	heart
11	chr9:102483400-102484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:102483400-102484600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:102483400-102485000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:102483600-102483800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:102483600-102484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:102483600-102484600	Weak transcription	Primary T cells from cord blood	blood
17	chr9:102483600-102484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:102483600-102484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr9:102483600-102484800	Weak transcription	Primary B cells from cord blood	blood
20	chr9:102483600-102484800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:102483600-102484800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:102483600-102485000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:102483600-102485000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:102483600-102485000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:102483600-102485000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:102483600-102485000	Weak transcription	GM12878-XiMat	blood
27	chr9:102483600-102485200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr9:102483800-102485000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:102483800-102485000	Weak transcription	Dnd41	blood

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