Variant report

Variant	nsv524426
Chromosome Location	chr6:87075485-87089536
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	chr2:199112345..199112956-chr6:87088425..87089218,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9450431	chr6:87075485-87075486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555271970	chr6:87075486-87075487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567896825	chr6:87075556-87075557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202012800	chr6:87075558-87075559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557141525	chr6:87075564-87075565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9351092	chr6:87075576-87075577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117550305	chr6:87075581-87075582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557777310	chr6:87075599-87075600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572905396	chr6:87075645-87075646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143423123	chr6:87075665-87075666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562976367	chr6:87075699-87075700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187913088	chr6:87075751-87075752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563562477	chr6:87075759-87075760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544435167	chr6:87075841-87075842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67694120	chr6:87075845-87075846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57675451	chr6:87075846-87075847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200868868	chr6:87075850-87075851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202049585	chr6:87075851-87075852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6938842	chr6:87075866-87075867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374311275	chr6:87075884-87075885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146242547	chr6:87075895-87075896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545146757	chr6:87075899-87075900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560090683	chr6:87075925-87075926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527711986	chr6:87075926-87075927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114031480	chr6:87075941-87075942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571998367	chr6:87075944-87075945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113852813	chr6:87075964-87075965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529189962	chr6:87075983-87075984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113370427	chr6:87075990-87075991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182875540	chr6:87076003-87076004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73489810	chr6:87076011-87076012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557922329	chr6:87076015-87076016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566589090	chr6:87076038-87076039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148436975	chr6:87076072-87076073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540913320	chr6:87076073-87076074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555408196	chr6:87076093-87076094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565591820	chr6:87076098-87076099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574212538	chr6:87076118-87076119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72915094	chr6:87076147-87076148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551642882	chr6:87076160-87076161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117710707	chr6:87076166-87076167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2875483	chr6:87076186-87076187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187233251	chr6:87076209-87076210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2324920	chr6:87076225-87076226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71572709	chr6:87076238-87076239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560178347	chr6:87076241-87076242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117291485	chr6:87076256-87076257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75924571	chr6:87076263-87076264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142555316	chr6:87076295-87076296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529165097	chr6:87076296-87076297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87066000-87077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87077200-87079400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:87078200-87078800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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