Variant report

Variant	nsv980625
Chromosome Location	chr5:29252358-29257987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs561668529	chr5:29252362-29252363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561011083	chr5:29252364-29252365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142406809	chr5:29252397-29252398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146834420	chr5:29252420-29252421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139633946	chr5:29252439-29252440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371826435	chr5:29252442-29252443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73750011	chr5:29252449-29252450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538353241	chr5:29252467-29252468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549069418	chr5:29252547-29252548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566745230	chr5:29252568-29252569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534098587	chr5:29252586-29252587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556058776	chr5:29252587-29252588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs70948517	chr5:29252588-29252589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200464620	chr5:29252600-29252601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186601320	chr5:29252656-29252657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71608748	chr5:29252666-29252667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538278859	chr5:29252714-29252715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537911371	chr5:29252719-29252720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192614921	chr5:29252808-29252809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578037125	chr5:29252817-29252818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184596289	chr5:29252857-29252858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560538938	chr5:29252869-29252870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572242550	chr5:29252876-29252877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542437724	chr5:29252885-29252886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561280419	chr5:29252918-29252919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531495331	chr5:29252924-29252925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10461855	chr5:29252933-29252934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140309771	chr5:29253016-29253017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144038800	chr5:29253024-29253025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528851231	chr5:29253065-29253066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557488935	chr5:29253068-29253069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577292937	chr5:29253108-29253109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55696992	chr5:29253116-29253117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146430655	chr5:29253194-29253195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565420002	chr5:29253217-29253218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559702266	chr5:29253252-29253253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74622093	chr5:29253277-29253278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534431844	chr5:29253291-29253292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577518725	chr5:29253349-29253350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540532356	chr5:29253375-29253376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567808059	chr5:29253378-29253379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140689955	chr5:29253405-29253406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150078743	chr5:29253427-29253428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571686289	chr5:29253435-29253436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145646422	chr5:29253476-29253477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542788650	chr5:29253487-29253488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148890614	chr5:29253493-29253494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572446754	chr5:29253500-29253501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7701380	chr5:29253507-29253508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554475803	chr5:29253515-29253516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29250400-29254800	Weak transcription	Hela-S3	cervix
2	chr5:29254800-29255000	Enhancers	Hela-S3	cervix
3	chr5:29255000-29255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:29255000-29258600	Weak transcription	Hela-S3	cervix
5	chr5:29255200-29255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:29255400-29257200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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