Variant report

Variant	nsv981221
Chromosome Location	chr6:65296998-65299971
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	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181392603	chr6:65297003-65297004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17482092	chr6:65297025-65297026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567822227	chr6:65297033-65297034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145536059	chr6:65297058-65297059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569683360	chr6:65297081-65297082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9353933	chr6:65297082-65297083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571698409	chr6:65297102-65297103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539029437	chr6:65297117-65297118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375334406	chr6:65297121-65297122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554148061	chr6:65297170-65297171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572377217	chr6:65297211-65297212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17290084	chr6:65297218-65297219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191097810	chr6:65297241-65297242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528915908	chr6:65297252-65297253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543186252	chr6:65297263-65297264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148821387	chr6:65297272-65297273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182990585	chr6:65297313-65297314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540635121	chr6:65297341-65297342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558876930	chr6:65297351-65297352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527999286	chr6:65297441-65297442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143463467	chr6:65297459-65297460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185920699	chr6:65297481-65297482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374296536	chr6:65297500-65297501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531914471	chr6:65297505-65297506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368468821	chr6:65297506-65297507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16895511	chr6:65297568-65297569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539093132	chr6:65297587-65297588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192511710	chr6:65297624-65297625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7740554	chr6:65297633-65297634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536169998	chr6:65297677-65297678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370721128	chr6:65297686-65297687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553242215	chr6:65297788-65297789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554832425	chr6:65297797-65297798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183909947	chr6:65297824-65297825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578138054	chr6:65297875-65297876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187730967	chr6:65297877-65297878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374920012	chr6:65297916-65297917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558291524	chr6:65297961-65297962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576532777	chr6:65297972-65297973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139003414	chr6:65298034-65298035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11756443	chr6:65298045-65298046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557869611	chr6:65298089-65298090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558942349	chr6:65298104-65298105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576231340	chr6:65298115-65298116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142217167	chr6:65298157-65298158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543436933	chr6:65298177-65298178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542981833	chr6:65298191-65298192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561625294	chr6:65298212-65298213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542282302	chr6:65298252-65298253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192231075	chr6:65298334-65298335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65295800-65298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:65298400-65298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:65298600-65299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:65299800-65300400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:65299800-65300400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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