Variant report

Variant	esv3414918
Chromosome Location	chr9:101445882-101446238
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	chr9:101438733..101440409-chr9:101444252..101446799,2	K562	blood:
2	chr9:101443808..101446573-chr9:101451549..101453515,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556333664	chr9:101445903-101445904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531596662	chr9:101445904-101445905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551527593	chr9:101445916-101445917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564930570	chr9:101445933-101445934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111802525	chr9:101445939-101445940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190974570	chr9:101445949-101445950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs883443	chr9:101445961-101445962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567386278	chr9:101445985-101445986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113834332	chr9:101445989-101445990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2095078	chr9:101446067-101446068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550302246	chr9:101446090-101446091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570261354	chr9:101446109-101446110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148581452	chr9:101446124-101446125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554327251	chr9:101446136-101446137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2095079	chr9:101446146-101446147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2095080	chr9:101446151-101446152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558444147	chr9:101446153-101446154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553932231	chr9:101446163-101446164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553777642	chr9:101446214-101446215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Bipolar disorder	18458673	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
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101442000-101448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:101445400-101448000	Weak transcription	Placenta	Placenta

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