Variant report

Variant	nsv969216
Chromosome Location	chr5:30269748-30277411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550970187	chr5:30271419-30271420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76804735	chr5:30271500-30271501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146380030	chr5:30271503-30271504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530946279	chr5:30271544-30271545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544666747	chr5:30271588-30271589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185575054	chr5:30271619-30271620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4626349	chr5:30271639-30271640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369279770	chr5:30271767-30271768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200144976	chr5:30271768-30271769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546824496	chr5:30271792-30271793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567147620	chr5:30271809-30271810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529571106	chr5:30271819-30271820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547767032	chr5:30271828-30271829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567006987	chr5:30271830-30271831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567682781	chr5:30271961-30271962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73089235	chr5:30271967-30271968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148584836	chr5:30272008-30272009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570494353	chr5:30272014-30272015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76810232	chr5:30272033-30272034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34885267	chr5:30272143-30272144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552923350	chr5:30272212-30272213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573161244	chr5:30272222-30272223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142995058	chr5:30272332-30272333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555722382	chr5:30272394-30272395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182104739	chr5:30272409-30272410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151031575	chr5:30272417-30272418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564593128	chr5:30272459-30272460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555606499	chr5:30272504-30272505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533308381	chr5:30272553-30272554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540798657	chr5:30272609-30272610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375987126	chr5:30272643-30272644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111354108	chr5:30272667-30272668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575554194	chr5:30272726-30272727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529460060	chr5:30272753-30272754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188963276	chr5:30272833-30272834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193247210	chr5:30272856-30272857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183585765	chr5:30272857-30272858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34076177	chr5:30272885-30272886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557316001	chr5:30272887-30272888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577608211	chr5:30272917-30272918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570505470	chr5:30272918-30272919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139706269	chr5:30272919-30272920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553050996	chr5:30272927-30272928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566645040	chr5:30272931-30272932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369629747	chr5:30272948-30272949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535651079	chr5:30272951-30272952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555657460	chr5:30273018-30273019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575648965	chr5:30273022-30273023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544588872	chr5:30273023-30273024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557891572	chr5:30273037-30273038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:30271400-30274400	Enhancers	Hela-S3	cervix
2	chr5:30276200-30276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:30276400-30277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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