Variant report

Variant	esv2830152
Chromosome Location	chr5:27611431-27632765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
2	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
3	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75446062	chr5:27619441-27619442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10940680	chr5:27619470-27619471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552812238	chr5:27619505-27619506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536253433	chr5:27619518-27619519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536196084	chr5:27619524-27619525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555054037	chr5:27619578-27619579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187584392	chr5:27619599-27619600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112070443	chr5:27619602-27619603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566330784	chr5:27619700-27619701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576447674	chr5:27619729-27619730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191654416	chr5:27619743-27619744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558864936	chr5:27619746-27619747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34906954	chr5:27619756-27619757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147517839	chr5:27619799-27619800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114042180	chr5:27619831-27619832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373006034	chr5:27619869-27619870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529717578	chr5:27619874-27619875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184091567	chr5:27619957-27619958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548542944	chr5:27619960-27619961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568336145	chr5:27620002-27620003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189703814	chr5:27620019-27620020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552383143	chr5:27620030-27620031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138449439	chr5:27620081-27620082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192707311	chr5:27620086-27620087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537063071	chr5:27620116-27620117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528241777	chr5:27620160-27620161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141687541	chr5:27620181-27620182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150523455	chr5:27620207-27620208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139512916	chr5:27620217-27620218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184508901	chr5:27620225-27620226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55915220	chr5:27620259-27620260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77309964	chr5:27620352-27620353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537137405	chr5:27620384-27620385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558976850	chr5:27620386-27620387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61653870	chr5:27620392-27620393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190467616	chr5:27620399-27620400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545224428	chr5:27623819-27623820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12188986	chr5:27623823-27623824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527845611	chr5:27623903-27623904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115926823	chr5:27624016-27624017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561380713	chr5:27624068-27624069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531376782	chr5:27624079-27624080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549508392	chr5:27624082-27624083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552144624	chr5:27624088-27624089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35736853	chr5:27624159-27624160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571389677	chr5:27624220-27624221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538719610	chr5:27624244-27624245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547479568	chr5:27624245-27624246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147103630	chr5:27624246-27624247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565965482	chr5:27624249-27624250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27619400-27620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:27620000-27620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:27620200-27620400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:27623800-27626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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