Variant report

Variant	nsv5362
Chromosome Location	chr6:78692880-78738761
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	chr3:63179133..63179654-chr6:78736848..78737349,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146230668	chr6:78693033-78693034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113930285	chr6:78693088-78693089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558349630	chr6:78693089-78693090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34822759	chr6:78693105-78693106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578255867	chr6:78693126-78693127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544083356	chr6:78693143-78693144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564147893	chr6:78693146-78693147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16889554	chr6:78693215-78693216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563773870	chr6:78693230-78693231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541609911	chr6:78693235-78693236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148034614	chr6:78693236-78693237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527525971	chr6:78693280-78693281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77413673	chr6:78693477-78693478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570282190	chr6:78693539-78693540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577896021	chr6:78693563-78693564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533059128	chr6:78693564-78693565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549624149	chr6:78693567-78693568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569991446	chr6:78693593-78693594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535837793	chr6:78693595-78693596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545618373	chr6:78693633-78693634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373188408	chr6:78693706-78693707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139401219	chr6:78693708-78693709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141758768	chr6:78693736-78693737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535095474	chr6:78693737-78693738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199606377	chr6:78693746-78693747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189660858	chr6:78693789-78693790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60719298	chr6:78693823-78693824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375864535	chr6:78693882-78693883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557687328	chr6:78693894-78693895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73761636	chr6:78693904-78693905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541790478	chr6:78693911-78693912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531086628	chr6:78693940-78693941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150586312	chr6:78693952-78693953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139646221	chr6:78693962-78693963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115294994	chr6:78693963-78693964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563946962	chr6:78693976-78693977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532951239	chr6:78693984-78693985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549710492	chr6:78693997-78693998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563575909	chr6:78694010-78694011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370394658	chr6:78694027-78694028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528137669	chr6:78694071-78694072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144172257	chr6:78694078-78694079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1997926	chr6:78694092-78694093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565890850	chr6:78694209-78694210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535133485	chr6:78694230-78694231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147356845	chr6:78694235-78694236	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367678621	chr6:78694237-78694238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370240370	chr6:78694294-78694295	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537622868	chr6:78694348-78694349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs375392747	chr6:78694349-78694350	Active TSS	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	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78693000-78694200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:78694200-78694600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr6:78713000-78713800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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