Variant report

Variant	nsv966625
Chromosome Location	chr6:69958100-69964349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 249 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146187770	chr6:69958120-69958121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs728299	chr6:69958129-69958130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35119734	chr6:69958142-69958143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575601039	chr6:69958188-69958189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544629064	chr6:69958208-69958209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564947386	chr6:69958236-69958237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3839478	chr6:69958238-69958239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397841475	chr6:69958246-69958247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139157170	chr6:69958352-69958353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541162249	chr6:69958365-69958366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560518867	chr6:69958401-69958402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529545479	chr6:69958436-69958437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544903943	chr6:69958449-69958450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549662422	chr6:69958474-69958475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563197397	chr6:69958489-69958490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531690438	chr6:69958500-69958501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113497018	chr6:69958531-69958532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551806277	chr6:69958581-69958582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181021184	chr6:69958582-69958583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571652654	chr6:69958591-69958592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534030001	chr6:69958655-69958656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79935302	chr6:69958660-69958661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75388210	chr6:69958697-69958698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536059091	chr6:69958758-69958759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556013986	chr6:69958811-69958812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185906939	chr6:69958836-69958837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190022512	chr6:69958847-69958848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552644634	chr6:69958856-69958857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370185495	chr6:69958862-69958863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533645827	chr6:69958877-69958878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570920378	chr6:69958902-69958903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538206252	chr6:69958932-69958933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558259232	chr6:69958944-69958945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572054368	chr6:69958955-69958956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374839203	chr6:69958982-69958983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540749615	chr6:69958995-69958996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373236551	chr6:69959014-69959015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554663102	chr6:69959029-69959030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540272465	chr6:69959030-69959031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543245273	chr6:69959040-69959041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563134432	chr6:69959047-69959048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148675005	chr6:69959123-69959124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181283585	chr6:69959152-69959153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565110808	chr6:69959159-69959160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142212230	chr6:69959170-69959171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547542472	chr6:69959172-69959173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567445548	chr6:69959220-69959221	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147857107	chr6:69959225-69959226	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76025769	chr6:69959250-69959251	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200884600	chr6:69959254-69959255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69946200-69960400	Weak transcription	Brain Anterior Caudate	brain
2	chr6:69948600-69970200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69955400-69959200	Weak transcription	Aorta	Aorta
4	chr6:69959200-69959400	Active TSS	Aorta	Aorta
5	chr6:69960400-69960600	Enhancers	Brain Anterior Caudate	brain

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