Variant report

Variant	nsv613063
Chromosome Location	chr9:1448707-1450274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569765928	chr9:1448758-1448759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200948909	chr9:1448765-1448766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559158301	chr9:1448770-1448771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572700130	chr9:1448801-1448802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532775844	chr9:1448818-1448819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554971303	chr9:1448866-1448867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573616185	chr9:1448879-1448880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200051357	chr9:1448890-1448891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531724081	chr9:1448898-1448899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575114315	chr9:1448917-1448918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75038924	chr9:1448922-1448923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34428679	chr9:1448933-1448934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563368597	chr9:1448942-1448943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71491977	chr9:1448946-1448947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201752365	chr9:1448947-1448948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143640584	chr9:1448951-1448952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183665270	chr9:1448978-1448979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188193710	chr9:1449004-1449005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150139435	chr9:1449053-1449054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548658591	chr9:1449082-1449083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13294519	chr9:1449084-1449085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138663053	chr9:1449097-1449098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530052897	chr9:1449143-1449144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534228446	chr9:1449203-1449204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549781918	chr9:1449247-1449248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74874417	chr9:1449262-1449263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149319803	chr9:1449267-1449268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554193455	chr9:1449298-1449299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144582081	chr9:1449300-1449301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10756548	chr9:1449326-1449327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191729194	chr9:1449329-1449330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183864504	chr9:1449336-1449337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10491860	chr9:1449360-1449361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377573253	chr9:1449367-1449368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576540071	chr9:1449380-1449381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111848467	chr9:1449398-1449399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61182110	chr9:1449411-1449412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576851435	chr9:1449413-1449414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545848602	chr9:1449416-1449417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546230917	chr9:1449419-1449420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370965865	chr9:1449432-1449433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145971826	chr9:1449438-1449439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573328073	chr9:1449440-1449441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10810139	chr9:1449445-1449446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561166251	chr9:1449454-1449455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115141367	chr9:1449461-1449462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375619600	chr9:1449462-1449463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550120025	chr9:1449488-1449489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186739560	chr9:1449494-1449495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532153470	chr9:1449508-1449509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose

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