Variant report

Variant	nsv818430
Chromosome Location	chr6:78343235-78350842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
2	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
3	chr4:114314248..114314920-chr6:78343402..78344219,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184193721	chr6:78343434-78343435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548568565	chr6:78343483-78343484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568499389	chr6:78343487-78343488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527763717	chr6:78343575-78343576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547915082	chr6:78343582-78343583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs977854	chr6:78343630-78343631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9341677	chr6:78343644-78343645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs977855	chr6:78343664-78343665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570299227	chr6:78343718-78343719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57000860	chr6:78343735-78343736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377458968	chr6:78343782-78343783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16889263	chr6:78343844-78343845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143136312	chr6:78343871-78343872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368228271	chr6:78343890-78343891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76626625	chr6:78343932-78343933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114319279	chr6:78343985-78343986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576869186	chr6:78343986-78343987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545951451	chr6:78344009-78344010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73759096	chr6:78344041-78344042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1379884	chr6:78344046-78344047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188576315	chr6:78344074-78344075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34382306	chr6:78344095-78344096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181642348	chr6:78344151-78344152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527725465	chr6:78344167-78344168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547482247	chr6:78344176-78344177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570874928	chr6:78344199-78344200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186220966	chr6:78344222-78344223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141378657	chr6:78344237-78344238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35032650	chr6:78344244-78344245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1979289	chr6:78344307-78344308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59061372	chr6:78344347-78344348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140509169	chr6:78344353-78344354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34166420	chr6:78349410-78349411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555425810	chr6:78349487-78349488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567785710	chr6:78349505-78349506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373530841	chr6:78349543-78349544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569339705	chr6:78349595-78349596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538377267	chr6:78349606-78349607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117488285	chr6:78349634-78349635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557270119	chr6:78349643-78349644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534216118	chr6:78349700-78349701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554405101	chr6:78349761-78349762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190389683	chr6:78349816-78349817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142392710	chr6:78349831-78349832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10498914	chr6:78349854-78349855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181500053	chr6:78349855-78349856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543929616	chr6:78349866-78349867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560744695	chr6:78349873-78349874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2504286	chr6:78349924-78349925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540058711	chr6:78349927-78349928	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21990379	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78343400-78344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:78343400-78344400	Enhancers	NH-A	brain
3	chr6:78343600-78344400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:78343800-78344400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:78349400-78350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78350400-78353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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