Variant report

Variant	nsv980637
Chromosome Location	chr5:36588834-36590502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2562561	chr5:36588858-36588859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551972543	chr5:36588901-36588902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571794171	chr5:36588906-36588907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527766002	chr5:36588932-36588933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547848159	chr5:36588966-36588967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528145844	chr5:36588972-36588973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567547987	chr5:36588981-36588982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548348651	chr5:36588995-36588996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2562562	chr5:36589034-36589035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567847665	chr5:36589035-36589036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549813515	chr5:36589052-36589053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530350111	chr5:36589064-36589065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369668615	chr5:36589085-36589086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372302969	chr5:36589093-36589094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181206111	chr5:36589149-36589150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538198305	chr5:36589164-36589165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571842506	chr5:36589194-36589195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143905539	chr5:36589205-36589206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2731919	chr5:36589230-36589231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574353424	chr5:36589249-36589250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543365617	chr5:36589257-36589258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550471982	chr5:36589297-36589298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185793936	chr5:36589303-36589304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2562563	chr5:36589338-36589339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189725682	chr5:36589403-36589404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565464120	chr5:36589419-36589420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527831757	chr5:36589559-36589560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11949412	chr5:36589569-36589570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148583391	chr5:36589620-36589621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530053634	chr5:36589634-36589635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114664211	chr5:36589670-36589671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114723771	chr5:36589671-36589672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538528553	chr5:36589732-36589733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551992484	chr5:36589743-36589744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369981757	chr5:36589746-36589747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74293513	chr5:36589760-36589761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182298408	chr5:36589786-36589787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115317883	chr5:36589862-36589863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536672415	chr5:36589881-36589882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186959711	chr5:36589910-36589911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34462011	chr5:36589930-36589931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111733884	chr5:36589965-36589966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191928796	chr5:36589996-36589997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565530269	chr5:36590011-36590012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574279443	chr5:36590038-36590039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541576740	chr5:36590050-36590051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561245086	chr5:36590057-36590058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151083375	chr5:36590076-36590077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184176906	chr5:36590108-36590109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10473032	chr5:36590119-36590120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
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
prenatal diagnosis	22389664	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
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
Non-small cell lung cancer	19010865	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
Prostate cancer	18632612	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36584800-36590400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:36584800-36590800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:36585200-36590600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:36585400-36590800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:36586200-36590600	Weak transcription	Brain Substantia Nigra	brain
6	chr5:36586200-36590800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:36587800-36591400	Weak transcription	Left Ventricle	heart
8	chr5:36588000-36590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:36589400-36589600	Enhancers	Right Atrium	heart
10	chr5:36589600-36591600	Weak transcription	Right Atrium	heart
11	chr5:36590400-36590800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:36590400-36591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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