Variant report

Variant	nsv979762
Chromosome Location	chr3:22085839-22088433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148515572	chr3:22087409-22087410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75112654	chr3:22087414-22087415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565519792	chr3:22087420-22087421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543533443	chr3:22087444-22087445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187738281	chr3:22087449-22087450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536267224	chr3:22087462-22087463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs259462	chr3:22087474-22087475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7632328	chr3:22087497-22087498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373178299	chr3:22087513-22087514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34362610	chr3:22087533-22087534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569778155	chr3:22087542-22087543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377025448	chr3:22087555-22087556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374422662	chr3:22087572-22087573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79280614	chr3:22087575-22087576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375102330	chr3:22087576-22087577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11421787	chr3:22087582-22087583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397691376	chr3:22087584-22087585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577143061	chr3:22087606-22087607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540945933	chr3:22087660-22087661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190872518	chr3:22087687-22087688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572313665	chr3:22087691-22087692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13071653	chr3:22087693-22087694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77691317	chr3:22087697-22087698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140080076	chr3:22087734-22087735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531690928	chr3:22087760-22087761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138594634	chr3:22087788-22087789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547694133	chr3:22087819-22087820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142863760	chr3:22087854-22087855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6774955	chr3:22087876-22087877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566001058	chr3:22087879-22087880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532772553	chr3:22087906-22087907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6790190	chr3:22087938-22087939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549892408	chr3:22087971-22087972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569817134	chr3:22088011-22088012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151054054	chr3:22088049-22088050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141002474	chr3:22088064-22088065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532457274	chr3:22088079-22088080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61678164	chr3:22088086-22088087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569706937	chr3:22088093-22088094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186903534	chr3:22088109-22088110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558713937	chr3:22088132-22088133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570525949	chr3:22088140-22088141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370733374	chr3:22088153-22088154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552948142	chr3:22088179-22088180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375761410	chr3:22088180-22088181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs259463	chr3:22088181-22088182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192162621	chr3:22088200-22088201	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links