Variant report

Variant	nsv512092
Chromosome Location	chr9:22665753-22667447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546876859	chr9:22665768-22665769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140612638	chr9:22665782-22665783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187565371	chr9:22665802-22665803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555528530	chr9:22665838-22665839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191447702	chr9:22665963-22665964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537506248	chr9:22666072-22666073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145733766	chr9:22666092-22666093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577517920	chr9:22666105-22666106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540963935	chr9:22666117-22666118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570103837	chr9:22666139-22666140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554042993	chr9:22666171-22666172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545765308	chr9:22666182-22666183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs518534	chr9:22666184-22666185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562708915	chr9:22666195-22666196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183800439	chr9:22666201-22666202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545126929	chr9:22666217-22666218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377606721	chr9:22666267-22666268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186924488	chr9:22666277-22666278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190285998	chr9:22666282-22666283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182164954	chr9:22666289-22666290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552736127	chr9:22666295-22666296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186485503	chr9:22666317-22666318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192714740	chr9:22666320-22666321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55718196	chr9:22666396-22666397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529132504	chr9:22666400-22666401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549213797	chr9:22666433-22666434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138300922	chr9:22666450-22666451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185433880	chr9:22666469-22666470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5896995	chr9:22666526-22666527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35713803	chr9:22666535-22666536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142985618	chr9:22666541-22666542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571268887	chr9:22666549-22666550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533524634	chr9:22666580-22666581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554079632	chr9:22666594-22666595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574009991	chr9:22666626-22666627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557269835	chr9:22666661-22666662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556721898	chr9:22666686-22666687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576521609	chr9:22666709-22666710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189203073	chr9:22666747-22666748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565229000	chr9:22666754-22666755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192865461	chr9:22666755-22666756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117366445	chr9:22666843-22666844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs671458	chr9:22666900-22666901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561228440	chr9:22666916-22666917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116788124	chr9:22666921-22666922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549250592	chr9:22666928-22666929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184718540	chr9:22666977-22666978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577393289	chr9:22667057-22667058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551483037	chr9:22667058-22667059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376886655	chr9:22667095-22667096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22661400-22670600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:22664600-22667200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:22667200-22667400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:22667400-22668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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