Variant report

Variant	esv3338298
Chromosome Location	chr9:8948102-8949200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13283441	chr9:8948102-8948103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13283442	chr9:8948104-8948105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201752188	chr9:8948119-8948120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111235214	chr9:8948123-8948124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572620254	chr9:8948125-8948126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150691819	chr9:8948144-8948145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377636195	chr9:8948150-8948151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533429301	chr9:8948166-8948167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564278081	chr9:8948218-8948219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576491377	chr9:8948224-8948225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200958005	chr9:8948234-8948235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543594605	chr9:8948291-8948292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4478630	chr9:8948294-8948295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200311259	chr9:8948297-8948298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192669554	chr9:8948307-8948308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529129773	chr9:8948308-8948309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200142612	chr9:8948406-8948407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552105843	chr9:8948408-8948409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200449309	chr9:8948413-8948414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4567099	chr9:8948417-8948418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559449039	chr9:8948425-8948426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376009843	chr9:8948437-8948438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201396313	chr9:8948438-8948439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4995119	chr9:8948440-8948441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4008135	chr9:8948447-8948448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4008136	chr9:8948453-8948454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4008137	chr9:8948460-8948461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4008138	chr9:8948465-8948466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369861161	chr9:8948466-8948467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5896289	chr9:8948467-8948468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4008139	chr9:8948468-8948469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4008140	chr9:8948469-8948470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4008141	chr9:8948477-8948478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4990967	chr9:8948481-8948482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4008143	chr9:8948505-8948506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4008144	chr9:8948507-8948508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10977394	chr9:8948510-8948511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4008145	chr9:8948517-8948518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4008146	chr9:8948519-8948520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566706079	chr9:8948522-8948523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533030268	chr9:8948565-8948566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35398395	chr9:8948593-8948594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569589048	chr9:8948598-8948599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537045595	chr9:8948599-8948600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548693884	chr9:8948624-8948625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567009923	chr9:8948629-8948630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111587015	chr9:8948661-8948662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550228298	chr9:8948691-8948692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72708110	chr9:8948696-8948697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188163147	chr9:8948707-8948708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8947000-8950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:8947000-8955000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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