Variant report

Variant	nsv1032533
Chromosome Location	chr6:81275753-81294402
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	chr6:81266263..81267805-chr6:81274227..81276426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216352	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546438089	chr6:81275845-81275846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565482125	chr6:81275941-81275942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532560700	chr6:81275953-81275954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566650093	chr6:81275965-81275966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28360539	chr6:81275996-81275997	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552481736	chr6:81276011-81276012	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75477385	chr6:81276019-81276020	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59292772	chr6:81276021-81276022	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569211144	chr6:81276028-81276029	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368053938	chr6:81276080-81276081	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371927022	chr6:81276100-81276101	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9449074	chr6:81276112-81276113	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144585341	chr6:81276158-81276159	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62406534	chr6:81276161-81276162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs55993034	chr6:81276228-81276229	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561174332	chr6:81276237-81276238	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540132560	chr6:81276272-81276273	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115984609	chr6:81276287-81276288	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10447324	chr6:81276315-81276316	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10447325	chr6:81276447-81276448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566523935	chr6:81276462-81276463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148403149	chr6:81276547-81276548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117262124	chr6:81276602-81276603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6938082	chr6:81276606-81276607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375989360	chr6:81276608-81276609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529697471	chr6:81276627-81276628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540322315	chr6:81276628-81276629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560020841	chr6:81276695-81276696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532320597	chr6:81276704-81276705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373139850	chr6:81276715-81276716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10447326	chr6:81276726-81276727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546995337	chr6:81276727-81276728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569143440	chr6:81276730-81276731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531639507	chr6:81276745-81276746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184238216	chr6:81276796-81276797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567638820	chr6:81276808-81276809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536296314	chr6:81276956-81276957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553409052	chr6:81276974-81276975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566885101	chr6:81277025-81277026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538812308	chr6:81277037-81277038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558730045	chr6:81277096-81277097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575493441	chr6:81277104-81277105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551759785	chr6:81277156-81277157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544494050	chr6:81277159-81277160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143374420	chr6:81277169-81277170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574354787	chr6:81277178-81277179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188121367	chr6:81277189-81277190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560159867	chr6:81277233-81277234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537673294	chr6:81277261-81277262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545972664	chr6:81277277-81277278	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81276000-81277400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:81276400-81276800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:81283200-81283600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:81283200-81283600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:81283200-81283800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:81287600-81287800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:81287800-81288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:81287800-81288800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:81288200-81288400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:81288400-81289400	Enhancers	HSMM	muscle
11	chr6:81288800-81289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:81288800-81289200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:81288800-81289200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:81288800-81289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:81288800-81289200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:81288800-81289200	Enhancers	Adipose Nuclei	Adipose

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