Variant report

Variant	nsv513218
Chromosome Location	chr5:8937800-8938924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11949503	chr5:8937804-8937805	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs36175240	chr5:8937835-8937836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368365129	chr5:8937852-8937853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540659438	chr5:8937888-8937889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560486461	chr5:8937924-8937925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145477002	chr5:8937983-8937984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200378228	chr5:8937988-8937989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186418530	chr5:8937993-8937994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527836271	chr5:8937997-8937998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549605567	chr5:8938023-8938024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569360105	chr5:8938024-8938025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372448155	chr5:8938089-8938090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551678391	chr5:8938099-8938100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549375535	chr5:8938146-8938147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567696170	chr5:8938178-8938179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533624835	chr5:8938182-8938183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553364438	chr5:8938214-8938215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201418895	chr5:8938381-8938382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566898025	chr5:8938411-8938412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536161599	chr5:8938426-8938427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556384571	chr5:8938454-8938455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550468703	chr5:8938466-8938467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576250421	chr5:8938516-8938517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545237754	chr5:8938536-8938537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558764968	chr5:8938537-8938538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191227424	chr5:8938542-8938543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149709280	chr5:8938544-8938545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554109953	chr5:8938545-8938546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368709088	chr5:8938550-8938551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560491133	chr5:8938655-8938656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368603964	chr5:8938696-8938697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571788392	chr5:8938726-8938727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2962649	chr5:8938768-8938769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542644769	chr5:8938779-8938780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563242376	chr5:8938802-8938803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531887090	chr5:8938814-8938815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551983603	chr5:8938826-8938827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562156165	chr5:8938831-8938832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10054529	chr5:8938863-8938864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6870451	chr5:8938885-8938886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575656422	chr5:8938904-8938905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542184023	chr5:8938917-8938918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8936600-8941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:8937400-8937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:8937600-8937800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:8937600-8938000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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