Variant report

Variant	nsv969951
Chromosome Location	chr5:28742141-28753068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28743630..28746249-chr5:28809920..28812616,2	K562	blood:
2	chr5:28743512..28746337-chr5:28749369..28752061,2	K562	blood:
3	chr5:28743512..28746337-chr5:28749369..28752061,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557844658	chr5:28742157-28742158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190849297	chr5:28742209-28742210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183472710	chr5:28742216-28742217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151094094	chr5:28742224-28742225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140115778	chr5:28742242-28742243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570957903	chr5:28742253-28742254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72758515	chr5:28742262-28742263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4461647	chr5:28742269-28742270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528803746	chr5:28742284-28742285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188242047	chr5:28742286-28742287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545598301	chr5:28742291-28742292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562123301	chr5:28742311-28742312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529358714	chr5:28742313-28742314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551140279	chr5:28742346-28742347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569061991	chr5:28742389-28742390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553069545	chr5:28742394-28742395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538427492	chr5:28742402-28742403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116700613	chr5:28742421-28742422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115053529	chr5:28742435-28742436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551629834	chr5:28742440-28742441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143779973	chr5:28742458-28742459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541853676	chr5:28742546-28742547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115828454	chr5:28742553-28742554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555018570	chr5:28742714-28742715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567303206	chr5:28742739-28742740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537540321	chr5:28742805-28742806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193190339	chr5:28742812-28742813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575412496	chr5:28742861-28742862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376772492	chr5:28742869-28742870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558346207	chr5:28742991-28742992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113046927	chr5:28743034-28743035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540924884	chr5:28743091-28743092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146705886	chr5:28743097-28743098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531239017	chr5:28743103-28743104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544701767	chr5:28743122-28743123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1423292	chr5:28743137-28743138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533485045	chr5:28743149-28743150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551249552	chr5:28743158-28743159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13168683	chr5:28743166-28743167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575988207	chr5:28743179-28743180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527590222	chr5:28743191-28743192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549301100	chr5:28743311-28743312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1423291	chr5:28743348-28743349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184743631	chr5:28743371-28743372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16898058	chr5:28743380-28743381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140285163	chr5:28743406-28743407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570976010	chr5:28743447-28743448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111606863	chr5:28743509-28743510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541389355	chr5:28743551-28743552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7705028	chr5:28743637-28743638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28737800-28743200	Weak transcription	Hela-S3	cervix
2	chr5:28743200-28743600	Enhancers	Fetal Heart	heart
3	chr5:28743200-28743800	Enhancers	Hela-S3	cervix
4	chr5:28743200-28744000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:28743400-28743800	Enhancers	Fetal Stomach	stomach
6	chr5:28743400-28744200	Enhancers	NH-A	brain
7	chr5:28752800-28753000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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