Variant report

Variant	nsv970355
Chromosome Location	chr6:146311220-146335514
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	chr6:146332080..146334276-chr6:146338594..146340945,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs191613504	chr6:146314840-146314841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2748500	chr6:146314852-146314853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531854789	chr6:146314916-146314917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545568705	chr6:146314924-146314925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542040317	chr6:146314963-146314964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527977645	chr6:146314964-146314965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548155080	chr6:146314965-146314966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2748499	chr6:146315002-146315003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs528851581	chr6:146315006-146315007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548987626	chr6:146315028-146315029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs864390	chr6:146315035-146315036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs9497441	chr6:146315041-146315042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138628614	chr6:146315087-146315088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377729343	chr6:146315092-146315093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577562725	chr6:146315121-146315122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536628131	chr6:146315146-146315147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370363293	chr6:146315169-146315170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544470260	chr6:146315193-146315194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185784000	chr6:146315196-146315197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553814292	chr6:146315210-146315211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370141703	chr6:146315218-146315219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73582189	chr6:146315225-146315226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115234368	chr6:146315228-146315229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117531324	chr6:146315257-146315258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190346789	chr6:146315262-146315263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559187749	chr6:146315266-146315267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76840751	chr6:146315289-146315290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565474481	chr6:146315300-146315301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76352500	chr6:146315307-146315308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370510130	chr6:146315317-146315318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527924657	chr6:146315331-146315332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541662780	chr6:146315335-146315336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77958894	chr6:146315344-146315345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530428226	chr6:146315366-146315367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548661989	chr6:146315396-146315397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562546019	chr6:146315407-146315408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531303924	chr6:146315429-146315430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551090625	chr6:146315442-146315443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563944188	chr6:146315450-146315451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182607728	chr6:146315468-146315469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149327581	chr6:146315469-146315470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2814869	chr6:146315509-146315510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs536554880	chr6:146315524-146315525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369186122	chr6:146315553-146315554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559812911	chr6:146315574-146315575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180711970	chr6:146331427-146331428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375766616	chr6:146331429-146331430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185743924	chr6:146331462-146331463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551158932	chr6:146331475-146331476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571017453	chr6:146331544-146331545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146314800-146315600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:146331400-146337800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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