Variant report

Variant	nsv523216
Chromosome Location	chr6:81274336-81287675
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: 162 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs10943720	chr6:81274336-81274337	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536493527	chr6:81274380-81274381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552970191	chr6:81274425-81274426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576545815	chr6:81274447-81274448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573109876	chr6:81274549-81274550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs36100000	chr6:81274563-81274564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538159044	chr6:81274572-81274573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532458198	chr6:81274586-81274587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142039041	chr6:81274627-81274628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558186829	chr6:81274628-81274629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556157914	chr6:81274647-81274648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543928201	chr6:81274677-81274678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570719129	chr6:81274720-81274721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574264360	chr6:81274736-81274737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543237999	chr6:81274766-81274767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144808241	chr6:81274876-81274877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528801482	chr6:81274884-81274885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138580196	chr6:81274892-81274893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564548955	chr6:81274965-81274966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574655789	chr6:81275080-81275081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139278173	chr6:81275093-81275094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201738836	chr6:81275099-81275100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530463439	chr6:81275114-81275115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189758385	chr6:81275131-81275132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34835730	chr6:81275133-81275134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567049438	chr6:81275180-81275181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183082531	chr6:81275200-81275201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546795695	chr6:81275272-81275273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115846469	chr6:81275326-81275327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538934202	chr6:81275369-81275370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188970706	chr6:81275416-81275417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578069507	chr6:81275535-81275536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72903939	chr6:81275539-81275540	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149327901	chr6:81275563-81275564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117115609	chr6:81275566-81275567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542824323	chr6:81275569-81275570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193118196	chr6:81275576-81275577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573414590	chr6:81275594-81275595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185305759	chr6:81275597-81275598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565284353	chr6:81275602-81275603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs72903940	chr6:81275643-81275644	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116227651	chr6:81275656-81275657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188179859	chr6:81275705-81275706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191684550	chr6:81275722-81275723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545870630	chr6:81275743-81275744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546438089	chr6:81275845-81275846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565482125	chr6:81275941-81275942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532560700	chr6:81275953-81275954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566650093	chr6:81275965-81275966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28360539	chr6:81275996-81275997	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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

Chromatin state (count:6 , 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

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