Variant report

Variant	nsv526662
Chromosome Location	chr3:22426918-22441261
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	chr3:22420213..22422752-chr3:22425859..22427632,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569959146	chr3:22429800-22429801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78226246	chr3:22429820-22429821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536941215	chr3:22429832-22429833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556560058	chr3:22429855-22429856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571625224	chr3:22429862-22429863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184815351	chr3:22429899-22429900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554279011	chr3:22429913-22429914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527727980	chr3:22429931-22429932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572693965	chr3:22429969-22429970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543239874	chr3:22429971-22429972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187650039	chr3:22430026-22430027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576713701	chr3:22430031-22430032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73041374	chr3:22430049-22430050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564901195	chr3:22430056-22430057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144344578	chr3:22430061-22430062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193039790	chr3:22430069-22430070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559059849	chr3:22430121-22430122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11709549	chr3:22430134-22430135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530104656	chr3:22430140-22430141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569739295	chr3:22430158-22430159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530841511	chr3:22430199-22430200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552138536	chr3:22430201-22430202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13079500	chr3:22430242-22430243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184548311	chr3:22430332-22430333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554193002	chr3:22430340-22430341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566205840	chr3:22430376-22430377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536339382	chr3:22430377-22430378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77705190	chr3:22430383-22430384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112509612	chr3:22432026-22432027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149764163	chr3:22432027-22432028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557987861	chr3:22432049-22432050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186526541	chr3:22432078-22432079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573047605	chr3:22432079-22432080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145723806	chr3:22432083-22432084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561870015	chr3:22432123-22432124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140599100	chr3:22432133-22432134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115065538	chr3:22432159-22432160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs563693953	chr3:22432164-22432165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530919064	chr3:22432201-22432202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs11711745	chr3:22432225-22432226	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570732135	chr3:22432271-22432272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145731762	chr3:22432285-22432286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73041382	chr3:22432333-22432334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369530877	chr3:22432340-22432341	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546773990	chr3:22432342-22432343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138407591	chr3:22432351-22432352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536142749	chr3:22432444-22432445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141324332	chr3:22432552-22432553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143346251	chr3:22432568-22432569	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79046639	chr3:22432587-22432588	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22429800-22430400	Enhancers	Fetal Lung	lung
2	chr3:22432000-22432800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:22440800-22442000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links