Variant report

Variant	nsv824814
Chromosome Location	chr9:902012-902604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144838555	chr9:902030-902031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190721006	chr9:902041-902042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371937719	chr9:902054-902055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376610214	chr9:902055-902056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111518534	chr9:902059-902060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148087900	chr9:902066-902067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537921407	chr9:902067-902068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141819310	chr9:902068-902069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10117191	chr9:902093-902094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188006078	chr9:902100-902101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547998480	chr9:902106-902107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572502183	chr9:902107-902108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535324838	chr9:902115-902116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191374236	chr9:902117-902118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533774073	chr9:902122-902123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554107186	chr9:902130-902131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182748202	chr9:902138-902139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561936440	chr9:902143-902144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187773660	chr9:902152-902153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192647697	chr9:902153-902154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575714184	chr9:902156-902157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544729215	chr9:902162-902163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201167871	chr9:902169-902170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369566571	chr9:902199-902200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562457116	chr9:902200-902201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563046901	chr9:902201-902202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548430254	chr9:902202-902203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539626668	chr9:902231-902232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527333741	chr9:902251-902252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527628129	chr9:902255-902256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201854367	chr9:902256-902257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7857864	chr9:902264-902265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529873139	chr9:902283-902284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140061309	chr9:902285-902286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114898167	chr9:902298-902299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2057429	chr9:902302-902303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369602596	chr9:902309-902310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373113894	chr9:902311-902312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377612677	chr9:902318-902319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184765666	chr9:902325-902326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146004291	chr9:902326-902327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566038309	chr9:902344-902345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146771839	chr9:902346-902347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10119256	chr9:902358-902359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74682605	chr9:902377-902378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118130430	chr9:902378-902379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533475653	chr9:902402-902403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143670969	chr9:902414-902415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577066744	chr9:902417-902418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529195459	chr9:902418-902419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:898600-903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:898800-905600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:900000-903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:900000-903200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:900200-903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:900600-902800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:900600-903200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:900600-903400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:900600-905600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:900600-906200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:900600-909000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:901800-903000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:902000-903400	Weak transcription	Monocytes-CD14+_RO01746	blood

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