Variant report

Variant	nsv615138
Chromosome Location	chr9:108536868-108538044
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	chr9:108530827..108532419-chr9:108534650..108537088,2	K562	blood:
2	chr9:108532137..108533710-chr9:108537549..108539905,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978241	chr9:108536868-108536869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs41297177	chr9:108536904-108536905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371729757	chr9:108536908-108536909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182112206	chr9:108536910-108536911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41316542	chr9:108536928-108536929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139439074	chr9:108537004-108537005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112827317	chr9:108537054-108537055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567894036	chr9:108537055-108537056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10978242	chr9:108537072-108537073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149669277	chr9:108537080-108537081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572070802	chr9:108537092-108537093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545489937	chr9:108537135-108537136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190125230	chr9:108537139-108537140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575629543	chr9:108537145-108537146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543350263	chr9:108537176-108537177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145482094	chr9:108537292-108537293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76311860	chr9:108537319-108537320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541190767	chr9:108537332-108537333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557233076	chr9:108537349-108537350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559603672	chr9:108537359-108537360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533420902	chr9:108537394-108537395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534838866	chr9:108537399-108537400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551904850	chr9:108537416-108537417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570108402	chr9:108537425-108537426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530912885	chr9:108537428-108537429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549726984	chr9:108537435-108537436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540733633	chr9:108537509-108537510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148481435	chr9:108537510-108537511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181329274	chr9:108537516-108537517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553525350	chr9:108537528-108537529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74897910	chr9:108537553-108537554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539564390	chr9:108537561-108537562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557418843	chr9:108537592-108537593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12237861	chr9:108537702-108537703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142722653	chr9:108537707-108537708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185541388	chr9:108537713-108537714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573844260	chr9:108537745-108537746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147526704	chr9:108537769-108537770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189858738	chr9:108537777-108537778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77760478	chr9:108537779-108537780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12237871	chr9:108537826-108537827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182286941	chr9:108537845-108537846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532937323	chr9:108537881-108537882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542463582	chr9:108537906-108537907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577752631	chr9:108537927-108537928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545552456	chr9:108537982-108537983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372377112	chr9:108538013-108538014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108514000-108540000	Weak transcription	HSMMtube	muscle
2	chr9:108515200-108545000	Weak transcription	K562	blood
3	chr9:108515200-108560600	Weak transcription	Ovary	ovary
4	chr9:108515600-108538600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:108517800-108538400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:108520600-108546400	Weak transcription	Fetal Intestine Small	intestine
7	chr9:108521000-108538400	Weak transcription	Primary B cells from cord blood	blood
8	chr9:108530400-108552600	Weak transcription	Pancreas	Pancrea
9	chr9:108533000-108537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:108534400-108538400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:108534400-108538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:108534400-108539600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:108534600-108538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:108534800-108538600	Weak transcription	Fetal Heart	heart
15	chr9:108535000-108540800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:108535800-108538600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:108536000-108539200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:108536600-108538200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:108536600-108538200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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