Variant report

Variant	nsv972601
Chromosome Location	chr9:1255865-1258853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189169994	chr9:1255872-1255873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17726364	chr9:1255877-1255878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150062942	chr9:1255896-1255897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538260413	chr9:1255918-1255919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557834026	chr9:1255931-1255932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529185623	chr9:1255955-1255956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144389836	chr9:1255968-1255969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540522865	chr9:1255969-1255970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548510626	chr9:1256020-1256021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192159297	chr9:1256030-1256031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7848543	chr9:1256036-1256037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530750741	chr9:1256069-1256070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148726141	chr9:1256095-1256096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184242957	chr9:1256148-1256149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550564615	chr9:1256159-1256160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142260641	chr9:1256192-1256193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116688356	chr9:1256217-1256218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7851845	chr9:1256220-1256221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578215570	chr9:1256242-1256243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566709854	chr9:1256260-1256261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188659031	chr9:1256318-1256319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147869206	chr9:1256335-1256336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141662683	chr9:1256348-1256349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181235586	chr9:1256356-1256357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540617366	chr9:1256359-1256360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565783761	chr9:1256362-1256363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553830662	chr9:1256383-1256384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534549441	chr9:1256457-1256458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554024839	chr9:1256458-1256459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116471876	chr9:1256487-1256488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542831876	chr9:1256510-1256511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556301888	chr9:1256524-1256525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77913288	chr9:1256586-1256587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373286556	chr9:1256648-1256649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186110718	chr9:1256659-1256660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543970392	chr9:1256667-1256668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564152388	chr9:1256708-1256709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74701414	chr9:1256720-1256721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573986610	chr9:1256728-1256729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75793867	chr9:1256747-1256748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398068377	chr9:1256753-1256754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113926981	chr9:1256756-1256757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189443523	chr9:1256772-1256773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386731540	chr9:1256799-1256800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79283301	chr9:1256800-1256801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145404226	chr9:1256867-1256868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568910758	chr9:1256888-1256889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531878058	chr9:1256951-1256952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551575167	chr9:1256993-1256994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180680168	chr9:1257023-1257024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1255800-1256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:1255800-1256200	Enhancers	Adipose Nuclei	Adipose
3	chr9:1256200-1261200	Weak transcription	Adipose Nuclei	Adipose

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