Variant report

Variant	nsv526553
Chromosome Location	chr9:1789663-1793162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28648562	chr9:1791600-1791601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565234054	chr9:1791607-1791608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146773588	chr9:1791612-1791613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566492712	chr9:1791614-1791615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140504340	chr9:1791615-1791616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186556639	chr9:1791643-1791644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150420604	chr9:1791681-1791682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138603667	chr9:1791688-1791689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538663673	chr9:1791694-1791695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538026713	chr9:1791695-1791696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558133673	chr9:1791720-1791721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368484200	chr9:1791729-1791730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189436226	chr9:1791750-1791751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533588715	chr9:1791752-1791753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553747581	chr9:1791772-1791773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558570005	chr9:1791781-1791782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78500458	chr9:1791785-1791786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191256412	chr9:1792003-1792004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576913084	chr9:1792053-1792054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551588998	chr9:1792056-1792057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545834516	chr9:1792068-1792069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182785003	chr9:1792069-1792070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534118373	chr9:1792076-1792077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185891269	chr9:1792087-1792088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17654592	chr9:1792095-1792096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535835171	chr9:1792100-1792101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538871523	chr9:1792129-1792130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2068428	chr9:1792147-1792148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138199916	chr9:1792190-1792191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369750651	chr9:1792202-1792203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559126918	chr9:1792238-1792239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190743305	chr9:1792248-1792249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183212454	chr9:1792256-1792257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7031580	chr9:1792277-1792278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574930614	chr9:1792303-1792304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543819655	chr9:1792312-1792313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563809711	chr9:1792323-1792324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371134429	chr9:1792325-1792326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143680157	chr9:1792329-1792330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547651017	chr9:1792340-1792341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565094185	chr9:1792370-1792371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527455307	chr9:1792371-1792372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547710210	chr9:1792376-1792377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373301798	chr9:1792395-1792396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188968397	chr9:1792438-1792439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145777675	chr9:1792456-1792457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560321267	chr9:1792480-1792481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569280946	chr9:1792492-1792493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538349113	chr9:1792506-1792507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558326775	chr9:1792509-1792510	Enhancers 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
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1791600-1791800	Enhancers	Fetal Brain Female	brain
2	chr9:1792000-1794000	Weak transcription	Fetal Brain Female	brain
3	chr9:1792000-1797400	Enhancers	Fetal Brain Male	brain
4	chr9:1793000-1793200	Enhancers	Brain Germinal Matrix	brain

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