Variant report

Variant	nsv964762
Chromosome Location	chr5:27719547-27723392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187648126	chr5:27719572-27719573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529460248	chr5:27719587-27719588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551016342	chr5:27719628-27719629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34052826	chr5:27719631-27719632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55708122	chr5:27719633-27719634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397783260	chr5:27719634-27719635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563177832	chr5:27719636-27719637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532806617	chr5:27719637-27719638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557410642	chr5:27719672-27719673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550961715	chr5:27719765-27719766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115320470	chr5:27719778-27719779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533652697	chr5:27719781-27719782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549028787	chr5:27719784-27719785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533667183	chr5:27719858-27719859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552909256	chr5:27719861-27719862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67818003	chr5:27719920-27719921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114181409	chr5:27719948-27719949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556219400	chr5:27719952-27719953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560367047	chr5:27719995-27719996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77283166	chr5:27720012-27720013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527304665	chr5:27720047-27720048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538889147	chr5:27720078-27720079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558190961	chr5:27720083-27720084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34423808	chr5:27720093-27720094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77216071	chr5:27720102-27720103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191568466	chr5:27720155-27720156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56375127	chr5:27720199-27720200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551712636	chr5:27720248-27720249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574183574	chr5:27720252-27720253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183053458	chr5:27720272-27720273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4529203	chr5:27720304-27720305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187021137	chr5:27720325-27720326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4272140	chr5:27720338-27720339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565360947	chr5:27720392-27720393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377318936	chr5:27720465-27720466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191833362	chr5:27720569-27720570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145374689	chr5:27720570-27720571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567340141	chr5:27720571-27720572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4379207	chr5:27720584-27720585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541187496	chr5:27720643-27720644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549951002	chr5:27720650-27720651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182161065	chr5:27720657-27720658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570212752	chr5:27720693-27720694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554078662	chr5:27720698-27720699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187529551	chr5:27720710-27720711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534179272	chr5:27720734-27720735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555617613	chr5:27720846-27720847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574078868	chr5:27720970-27720971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192782891	chr5:27720971-27720972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556350536	chr5:27720978-27720979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27718000-27721800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:27721800-27722200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:27722200-27725200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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