Variant report

Variant	esv1794928
Chromosome Location	chr5:27524711-27539490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549562427	chr5:27530216-27530217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73073612	chr5:27530237-27530238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532051518	chr5:27530238-27530239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550232906	chr5:27530252-27530253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368432597	chr5:27530255-27530256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571954973	chr5:27530292-27530293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199614100	chr5:27530334-27530335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189935922	chr5:27530347-27530348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2329626	chr5:27530378-27530379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149110584	chr5:27530399-27530400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141846392	chr5:27530418-27530419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201477547	chr5:27530428-27530429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572034936	chr5:27530459-27530460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183706667	chr5:27530531-27530532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115312407	chr5:27530539-27530540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576130268	chr5:27530541-27530542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543581864	chr5:27530542-27530543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558615697	chr5:27530574-27530575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576720045	chr5:27530632-27530633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187331780	chr5:27530668-27530669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576740420	chr5:27530706-27530707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560070771	chr5:27530774-27530775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144818528	chr5:27530791-27530792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542724517	chr5:27530802-27530803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561409913	chr5:27530830-27530831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531841814	chr5:27530831-27530832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550339458	chr5:27530845-27530846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565624289	chr5:27530860-27530861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573989018	chr5:27530880-27530881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372666972	chr5:27530881-27530882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532806815	chr5:27530900-27530901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547424872	chr5:27530904-27530905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75188772	chr5:27530931-27530932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377442518	chr5:27530934-27530935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536369871	chr5:27530936-27530937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545636922	chr5:27530998-27530999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557914454	chr5:27531009-27531010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138655892	chr5:27531025-27531026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192057492	chr5:27531035-27531036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536891904	chr5:27531049-27531050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376643359	chr5:27531131-27531132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142882672	chr5:27531170-27531171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559502114	chr5:27531188-27531189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576730618	chr5:27531191-27531192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78518994	chr5:27531208-27531209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534569121	chr5:27531228-27531229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553769556	chr5:27531292-27531293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578211595	chr5:27531297-27531298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372826906	chr5:27531299-27531300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183675870	chr5:27531315-27531316	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27530200-27531800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:27531600-27532400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:27531800-27532400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:27531800-27532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:27531800-27532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:27532400-27533400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:27532400-27533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:27533200-27533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:27533400-27533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:27533800-27534000	Enhancers	HUES48 Cell Line	embryonic stem cell

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