Variant report

Variant	nsv508414
Chromosome Location	chr6:78427861-78448673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375702572	chr6:78436004-78436005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190216382	chr6:78436018-78436019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558041422	chr6:78436033-78436034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557239599	chr6:78436035-78436036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540141878	chr6:78436040-78436041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150926187	chr6:78436055-78436056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574033398	chr6:78436064-78436065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564833635	chr6:78436103-78436104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114707318	chr6:78436116-78436117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573825906	chr6:78436120-78436121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559518906	chr6:78436158-78436159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536526357	chr6:78436165-78436166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528616276	chr6:78436167-78436168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140902414	chr6:78436174-78436175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565205547	chr6:78436184-78436185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531133660	chr6:78436192-78436193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193138661	chr6:78436202-78436203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569671989	chr6:78436210-78436211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150165312	chr6:78436245-78436246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549014069	chr6:78436247-78436248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185535427	chr6:78436270-78436271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376425346	chr6:78436275-78436276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188179094	chr6:78436280-78436281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558006096	chr6:78436289-78436290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180745391	chr6:78436309-78436310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537385753	chr6:78436350-78436351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56096318	chr6:78436357-78436358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145590933	chr6:78436358-78436359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10223781	chr6:78436371-78436372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542658997	chr6:78436385-78436386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140341354	chr6:78436386-78436387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10223782	chr6:78436394-78436395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145405321	chr6:78436465-78436466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185542615	chr6:78436468-78436469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531098067	chr6:78436486-78436487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138333517	chr6:78436504-78436505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561425715	chr6:78436521-78436522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528836659	chr6:78436535-78436536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144789922	chr6:78436548-78436549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112190353	chr6:78436549-78436550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs67182961	chr6:78436550-78436551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35867512	chr6:78436551-78436552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553240822	chr6:78436595-78436596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13437482	chr6:78436605-78436606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142830978	chr6:78436606-78436607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144016579	chr6:78436633-78436634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376340056	chr6:78436640-78436641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114031333	chr6:78436690-78436691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188684048	chr6:78436714-78436715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374286335	chr6:78436727-78436728	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78436000-78436400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr6:78436000-78436600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:78436000-78436600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:78436000-78436600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:78436200-78437000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:78436200-78437000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:78437000-78438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:78438400-78438600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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