Variant report

Variant	nsv516586
Chromosome Location	chr9:1475940-1487108
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	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
2	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:

Extended variants
information (count: 668 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7852527	chr9:1475940-1475941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558393858	chr9:1475946-1475947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192657256	chr9:1475950-1475951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541265545	chr9:1475952-1475953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561204755	chr9:1475984-1475985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574793383	chr9:1475990-1475991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543423660	chr9:1476022-1476023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559830430	chr9:1476024-1476025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563716349	chr9:1476030-1476031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386731555	chr9:1476078-1476079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115007155	chr9:1476080-1476081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559928301	chr9:1476110-1476111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527444245	chr9:1476124-1476125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73374327	chr9:1476129-1476130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376211401	chr9:1476138-1476139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369131528	chr9:1476142-1476143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140719284	chr9:1476162-1476163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142266846	chr9:1476212-1476213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151285975	chr9:1476227-1476228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538300676	chr9:1476240-1476241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554093843	chr9:1476244-1476245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139293718	chr9:1476263-1476264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565445195	chr9:1476274-1476275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184446487	chr9:1476293-1476294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554764330	chr9:1476315-1476316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117210896	chr9:1476335-1476336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12343327	chr9:1476339-1476340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549853315	chr9:1476346-1476347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557416992	chr9:1476371-1476372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577160704	chr9:1476418-1476419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149727420	chr9:1476426-1476427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13296339	chr9:1476448-1476449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56787352	chr9:1476502-1476503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528621132	chr9:1476510-1476511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7856185	chr9:1476516-1476517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs202156472	chr9:1476528-1476529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528919233	chr9:1476531-1476532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561051302	chr9:1476578-1476579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529872416	chr9:1476581-1476582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550043890	chr9:1476585-1476586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115585849	chr9:1476599-1476600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75494754	chr9:1476643-1476644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146730307	chr9:1476669-1476670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140325972	chr9:1476670-1476671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565407768	chr9:1476690-1476691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534426819	chr9:1476693-1476694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554278139	chr9:1476698-1476699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145563785	chr9:1476708-1476709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79036576	chr9:1476713-1476714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189721041	chr9:1476759-1476760	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	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1479000-1479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:1479000-1479400	Enhancers	HUES64 Cell Line	embryonic stem cell

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