Variant report

Variant	nsv970738
Chromosome Location	chr6:93376106-93379227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371502193	chr6:93376108-93376109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118175649	chr6:93376133-93376134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568809935	chr6:93376138-93376139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531226237	chr6:93376186-93376187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552010441	chr6:93376243-93376244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139344826	chr6:93376293-93376294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201082951	chr6:93376316-93376317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71558428	chr6:93376397-93376398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150037252	chr6:93376400-93376401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534546396	chr6:93376403-93376404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71540085	chr6:93376440-93376441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537056568	chr6:93376441-93376442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398002328	chr6:93376467-93376468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554397901	chr6:93376471-93376472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72075141	chr6:93376516-93376517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148793092	chr6:93376517-93376518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146618224	chr6:93376533-93376534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74860560	chr6:93376549-93376550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556709973	chr6:93376573-93376574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192537878	chr6:93376575-93376576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553186472	chr6:93376595-93376596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10944607	chr6:93376601-93376602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184518159	chr6:93376602-93376603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573080895	chr6:93376630-93376631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558953777	chr6:93376631-93376632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75072915	chr6:93376662-93376663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139863290	chr6:93376667-93376668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143295509	chr6:93376684-93376685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529078114	chr6:93376695-93376696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542283404	chr6:93376699-93376700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76930708	chr6:93376740-93376741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187489466	chr6:93376784-93376785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193277268	chr6:93376804-93376805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114650309	chr6:93376858-93376859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77930199	chr6:93376861-93376862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538737672	chr6:93376929-93376930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548129452	chr6:93376933-93376934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185030333	chr6:93376938-93376939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536846502	chr6:93376956-93376957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6913450	chr6:93376967-93376968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372015757	chr6:93376981-93376982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570046407	chr6:93376991-93376992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146659961	chr6:93377018-93377019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575557837	chr6:93377019-93377020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78702660	chr6:93377022-93377023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34558344	chr6:93377026-93377027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572138441	chr6:93377067-93377068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540109809	chr6:93377094-93377095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553669437	chr6:93377107-93377108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141491108	chr6:93377154-93377155	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93376000-93379000	Enhancers	Fetal Heart	heart
2	chr6:93377000-93378000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:93377600-93378000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:93377600-93378000	Active TSS	Right Atrium	heart
5	chr6:93378000-93383400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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