Variant report

Variant	nsv970339
Chromosome Location	chr6:82201643-82207387
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	chr15:45003689..45005679-chr6:82202647..82204263,2	K562	blood:

Variant related genes	Relation type
ENSG00000166710	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556164570	chr6:82201734-82201735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576322940	chr6:82201737-82201738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375986999	chr6:82201738-82201739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542549361	chr6:82201809-82201810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555790716	chr6:82201837-82201838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572573535	chr6:82201842-82201843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146585521	chr6:82201904-82201905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191525207	chr6:82201935-82201936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183827755	chr6:82201981-82201982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533089752	chr6:82202007-82202008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534673863	chr6:82202011-82202012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543438917	chr6:82202012-82202013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1321757	chr6:82202039-82202040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528892435	chr6:82202100-82202101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9443925	chr6:82202104-82202105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565856223	chr6:82202108-82202109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151172346	chr6:82202110-82202111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551195338	chr6:82202171-82202172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191243823	chr6:82202244-82202245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182712967	chr6:82202246-82202247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556127864	chr6:82202252-82202253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140191173	chr6:82202307-82202308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535505821	chr6:82202335-82202336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369541776	chr6:82202346-82202347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186661050	chr6:82202379-82202380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572687245	chr6:82202395-82202396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1923150	chr6:82202671-82202672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183314320	chr6:82202673-82202674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77621274	chr6:82202676-82202677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189214164	chr6:82202759-82202760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79741537	chr6:82202763-82202764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528403129	chr6:82202787-82202788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551155805	chr6:82202801-82202802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574144939	chr6:82202824-82202825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192892665	chr6:82202867-82202868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145174155	chr6:82202903-82202904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549814859	chr6:82202925-82202926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570069056	chr6:82202943-82202944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535829421	chr6:82202949-82202950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115457631	chr6:82203007-82203008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556335929	chr6:82203043-82203044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566361015	chr6:82203078-82203079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138997272	chr6:82203089-82203090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368787700	chr6:82203090-82203091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555502007	chr6:82203103-82203104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73749169	chr6:82203107-82203108	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537662085	chr6:82203126-82203127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557057066	chr6:82203132-82203133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573689246	chr6:82203197-82203198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6905459	chr6:82203213-82203214	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
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
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
Cancer	20164919	CNVD
Breast cancer	21364760	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	chr6:82200200-82202400	Enhancers	Liver	Liver
2	chr6:82200400-82202400	Enhancers	HepG2	liver
3	chr6:82201200-82201800	Enhancers	Stomach Mucosa	stomach

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