Variant report

Variant	nsv508353
Chromosome Location	chr5:44997086-45026298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561228730	chr5:44997819-44997820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149184660	chr5:44997837-44997838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142466841	chr5:44997901-44997902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115128561	chr5:44997911-44997912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539765643	chr5:44997940-44997941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528421927	chr5:44997953-44997954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78870891	chr5:44997967-44997968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548176241	chr5:44997993-44997994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571301638	chr5:44998001-44998002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146874306	chr5:44998042-44998043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189424746	chr5:44998048-44998049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181459221	chr5:44998049-44998050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536839274	chr5:44998056-44998057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111333671	chr5:44998062-44998063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566821717	chr5:44998063-44998064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565217885	chr5:44998069-44998070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538987123	chr5:44998077-44998078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558834494	chr5:44998090-44998091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575194025	chr5:44998118-44998119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544301819	chr5:44998147-44998148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555011090	chr5:44998169-44998170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543449479	chr5:45021414-45021415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370489775	chr5:45021451-45021452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111496654	chr5:45021513-45021514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534746602	chr5:45021514-45021515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183404953	chr5:45021516-45021517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542364174	chr5:45021543-45021544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187814846	chr5:45021553-45021554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528678630	chr5:45021581-45021582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192386709	chr5:45021587-45021588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551643422	chr5:45021626-45021627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182214430	chr5:45021629-45021630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78623137	chr5:45021634-45021635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187721868	chr5:45021665-45021666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111347238	chr5:45021750-45021751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552985363	chr5:45021777-45021778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550995166	chr5:45021778-45021779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71610388	chr5:45021804-45021805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567554545	chr5:45021814-45021815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370157104	chr5:45021837-45021838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536722363	chr5:45021902-45021903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546793820	chr5:45021907-45021908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192787319	chr5:45021956-45021957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184881271	chr5:45021972-45021973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558078579	chr5:45021998-45021999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578027315	chr5:45021999-45022000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190106554	chr5:45022003-45022004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556871018	chr5:45022014-45022015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142609091	chr5:45022054-45022055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542674719	chr5:45022092-45022093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44997800-44998200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:45021400-45030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:45024400-45024800	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links