Variant report

Variant	nsv604110
Chromosome Location	chr6:87347389-87351573
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	chr6:87343553..87345245-chr6:87346173..87348745,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143421466	chr6:87350202-87350203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375671172	chr6:87350239-87350240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182158471	chr6:87350261-87350262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2324950	chr6:87350271-87350272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561353178	chr6:87350288-87350289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528858299	chr6:87350310-87350311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376088791	chr6:87350315-87350316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370333607	chr6:87350318-87350319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376828362	chr6:87350326-87350327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367699705	chr6:87350327-87350328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67929946	chr6:87350328-87350329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386703479	chr6:87350329-87350330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548232908	chr6:87350352-87350353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185583810	chr6:87350377-87350378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386703480	chr6:87350378-87350379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148173066	chr6:87350458-87350459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573435922	chr6:87350459-87350460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551695134	chr6:87350465-87350466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560692395	chr6:87350515-87350516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527788975	chr6:87350529-87350530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568183524	chr6:87350533-87350534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549494828	chr6:87350538-87350539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567702207	chr6:87350595-87350596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538755447	chr6:87350601-87350602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189999712	chr6:87350615-87350616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550880923	chr6:87350616-87350617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183738975	chr6:87350641-87350642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539685722	chr6:87350659-87350660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533765536	chr6:87350761-87350762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141982537	chr6:87350839-87350840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553536011	chr6:87350868-87350869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572949358	chr6:87350870-87350871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150675565	chr6:87350894-87350895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558659047	chr6:87350907-87350908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7453325	chr6:87350911-87350912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573337930	chr6:87350941-87350942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543824270	chr6:87350944-87350945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139219952	chr6:87350951-87350952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578192503	chr6:87350962-87350963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545634419	chr6:87350979-87350980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373746416	chr6:87350980-87350981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35053960	chr6:87351039-87351040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16877571	chr6:87351067-87351068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549531571	chr6:87351069-87351070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561346061	chr6:87351086-87351087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147480909	chr6:87351089-87351090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368057596	chr6:87351112-87351113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549923977	chr6:87351148-87351149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571576173	chr6:87351157-87351158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539355936	chr6:87351161-87351162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Developmental delay	19490664	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87350200-87354400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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