Variant report

Variant	nsv964763
Chromosome Location	chr5:28488000-28493032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182993672	chr5:28488003-28488004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373635349	chr5:28488004-28488005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543394216	chr5:28488016-28488017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186263543	chr5:28488059-28488060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560418112	chr5:28488079-28488080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144064912	chr5:28488095-28488096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542848771	chr5:28488102-28488103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560923530	chr5:28488120-28488121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549078138	chr5:28488154-28488155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531358074	chr5:28488156-28488157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148659731	chr5:28488179-28488180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562611027	chr5:28488235-28488236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191328426	chr5:28488240-28488241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183130886	chr5:28488314-28488315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188321489	chr5:28488363-28488364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4867564	chr5:28488437-28488438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs141912350	chr5:28488460-28488461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199837090	chr5:28488480-28488481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372072088	chr5:28488491-28488492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192208120	chr5:28488492-28488493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182212957	chr5:28488510-28488511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374274074	chr5:28488565-28488566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556308517	chr5:28488668-28488669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187564431	chr5:28488670-28488671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192665997	chr5:28488712-28488713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75014059	chr5:28488713-28488714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538655740	chr5:28488731-28488732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553480046	chr5:28488734-28488735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184327520	chr5:28488753-28488754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542560904	chr5:28488776-28488777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190104318	chr5:28488835-28488836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575850038	chr5:28488886-28488887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372101269	chr5:28488904-28488905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116976558	chr5:28488971-28488972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146078246	chr5:28489050-28489051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531346744	chr5:28489059-28489060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192886448	chr5:28489148-28489149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560280613	chr5:28489149-28489150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6891511	chr5:28489162-28489163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549420958	chr5:28489228-28489229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368914062	chr5:28489238-28489239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555404016	chr5:28489243-28489244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143273375	chr5:28489270-28489271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567924579	chr5:28489273-28489274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10940730	chr5:28489288-28489289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199644747	chr5:28489315-28489316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550374970	chr5:28489321-28489322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4266409	chr5:28489325-28489326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140030428	chr5:28489351-28489352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184618686	chr5:28489373-28489374	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	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
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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28484200-28488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:28487200-28488400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:28487200-28488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:28487400-28488600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:28487400-28489400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:28487600-28488000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:28487600-28488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:28487800-28488800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:28487800-28489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:28488000-28489200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:28488400-28488800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:28488600-28489400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:28488600-28490000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:28488800-28489000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:28488800-28489200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:28488800-28489400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:28489200-28489400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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