Variant report

Variant	nsv964754
Chromosome Location	chr5:8651961-8669777
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	chr20:55143138..55143881-chr5:8652253..8652753,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA5A-6	chr5:8669130-8669362	NONHSAT100306
2	lnc-SEMA5A-7	chr5:8659876-8660171	NONHSAT100305

Extended variants
information (count: 140 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560539358	chr5:8651991-8651992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538555435	chr5:8652005-8652006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113734336	chr5:8652037-8652038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576444803	chr5:8652113-8652114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545220480	chr5:8652114-8652115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74384383	chr5:8652117-8652118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115825409	chr5:8652129-8652130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540734936	chr5:8652211-8652212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560256833	chr5:8652214-8652215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147062073	chr5:8652254-8652255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549146955	chr5:8652288-8652289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200115	chr5:8652336-8652337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148088449	chr5:8652350-8652351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7704554	chr5:8652400-8652401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141820601	chr5:8652453-8652454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533608730	chr5:8652458-8652459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7704712	chr5:8652462-8652463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184814354	chr5:8652510-8652511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16881001	chr5:8652529-8652530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189550222	chr5:8652536-8652537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56346301	chr5:8652561-8652562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs16881003	chr5:8652562-8652563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538941624	chr5:8652575-8652576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199203	chr5:8652597-8652598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572288938	chr5:8652601-8652602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60499871	chr5:8652658-8652659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184566003	chr5:8652676-8652677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543007766	chr5:8652692-8652693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562548526	chr5:8652694-8652695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372205540	chr5:8652699-8652700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149919873	chr5:8652700-8652701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58952239	chr5:8652704-8652705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531846578	chr5:8652707-8652708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113072897	chr5:8652709-8652710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189661503	chr5:8652711-8652712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565109227	chr5:8652776-8652777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200114	chr5:8652778-8652779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547714925	chr5:8652809-8652810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150697814	chr5:8652817-8652818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181271955	chr5:8652856-8652857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549707876	chr5:8652860-8652861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200113	chr5:8652870-8652871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
43	rs550505161	chr5:8652878-8652879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186730437	chr5:8652899-8652900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189113157	chr5:8652946-8652947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368123649	chr5:8653002-8653003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566011991	chr5:8653003-8653004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534809997	chr5:8653004-8653005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554516877	chr5:8653015-8653016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574034014	chr5:8653036-8653037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8634000-8654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:8660400-8660800	Enhancers	Fetal Stomach	stomach
3	chr5:8660400-8661200	Enhancers	Fetal Lung	lung

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