Variant report

Variant	nsv508349
Chromosome Location	chr5:12955564-12970343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149409119	chr5:12955586-12955587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147078800	chr5:12955589-12955590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560808349	chr5:12955604-12955605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375591675	chr5:12955615-12955616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527698120	chr5:12955709-12955710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138464151	chr5:12955729-12955730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200647404	chr5:12955736-12955737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530701599	chr5:12955795-12955796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185738960	chr5:12955809-12955810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552099867	chr5:12955815-12955816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531738668	chr5:12955824-12955825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549853691	chr5:12955836-12955837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144123294	chr5:12955847-12955848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570746882	chr5:12955877-12955878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536419376	chr5:12955953-12955954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147324673	chr5:12956022-12956023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569870454	chr5:12956088-12956089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548203967	chr5:12956167-12956168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112748023	chr5:12956181-12956182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202068328	chr5:12956216-12956217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566793819	chr5:12956229-12956230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533824156	chr5:12956273-12956274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546619472	chr5:12956296-12956297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558636177	chr5:12956347-12956348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576901454	chr5:12956354-12956355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537951483	chr5:12956355-12956356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556249074	chr5:12956409-12956410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574953755	chr5:12956457-12956458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536518679	chr5:12956477-12956478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547390657	chr5:12956479-12956480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370078949	chr5:12956512-12956513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111499930	chr5:12956517-12956518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560502511	chr5:12956520-12956521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189095974	chr5:12956555-12956556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148727803	chr5:12956570-12956571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62347402	chr5:12956581-12956582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531557815	chr5:12956666-12956667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150852057	chr5:12956679-12956680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139288600	chr5:12956680-12956681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529354935	chr5:12956692-12956693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548393893	chr5:12956702-12956703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34046997	chr5:12956746-12956747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555254202	chr5:12956774-12956775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368594445	chr5:12956784-12956785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534124481	chr5:12956800-12956801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193033749	chr5:12956816-12956817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370835124	chr5:12956870-12956871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146251589	chr5:12956891-12956892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185377948	chr5:12956898-12956899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568882019	chr5:12956915-12956916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
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
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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12952400-12957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:12957200-12958400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:12957400-12958400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:12957400-12958600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:12957400-12958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:12957400-12958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:12957600-12958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:12957600-12958400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:12957600-12958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:12957800-12958200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:12958600-12959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:12959800-12960200	Enhancers	Adipose Nuclei	Adipose

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