Variant report

Variant	nsv517110
Chromosome Location	chr6:78474985-78479018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558640316	chr6:78475611-78475612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575520214	chr6:78475640-78475641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192119986	chr6:78475641-78475642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147997805	chr6:78475648-78475649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541603548	chr6:78475656-78475657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142372303	chr6:78475683-78475684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10223638	chr6:78475695-78475696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560299369	chr6:78475729-78475730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369765940	chr6:78475731-78475732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139988896	chr6:78475767-78475768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11964641	chr6:78475922-78475923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181895886	chr6:78475938-78475939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562599429	chr6:78475942-78475943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74918226	chr6:78476001-78476002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111255410	chr6:78476026-78476027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561933640	chr6:78476043-78476044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527995055	chr6:78476084-78476085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548043344	chr6:78476108-78476109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566348128	chr6:78476137-78476138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538588421	chr6:78476153-78476154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189668217	chr6:78476160-78476161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569020326	chr6:78476231-78476232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150784726	chr6:78476234-78476235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554837561	chr6:78476291-78476292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182756585	chr6:78476321-78476322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6910402	chr6:78476330-78476331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187847854	chr6:78476331-78476332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560180063	chr6:78476343-78476344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149920537	chr6:78476351-78476352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145255577	chr6:78476365-78476366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576166184	chr6:78476371-78476372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148736609	chr6:78476380-78476381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78770280	chr6:78476394-78476395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527840186	chr6:78476396-78476397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541370869	chr6:78476413-78476414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564840470	chr6:78476440-78476441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571975072	chr6:78476450-78476451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533454869	chr6:78476460-78476461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144648177	chr6:78476514-78476515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371908887	chr6:78476536-78476537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115116516	chr6:78476603-78476604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573967999	chr6:78476658-78476659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568162664	chr6:78476664-78476665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533946262	chr6:78476667-78476668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553673183	chr6:78476689-78476690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7748475	chr6:78476694-78476695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542960566	chr6:78476772-78476773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556156661	chr6:78476792-78476793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564037520	chr6:78476801-78476802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183564905	chr6:78476809-78476810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78475600-78477200	Weak transcription	Pancreas	Pancrea
2	chr6:78477200-78477400	ZNF genes & repeats	Pancreas	Pancrea
3	chr6:78477400-78478800	Weak transcription	Pancreas	Pancrea
4	chr6:78478800-78479600	Strong transcription	Pancreas	Pancrea

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