Variant report

Variant	esv3449540
Chromosome Location	chr5:27282695-27286393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:27278603..27280851-chr5:27284025..27286164,2	K562	blood:
2	chr5:27217761..27220206-chr5:27285474..27288180,2	K562	blood:
3	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:
4	chr5:27277652..27280851-chr5:27283046..27286164,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150085390	chr5:27284402-27284403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578147713	chr5:27284428-27284429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577080130	chr5:27284436-27284437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543147329	chr5:27284444-27284445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536332598	chr5:27284491-27284492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374358385	chr5:27284503-27284504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540592920	chr5:27284542-27284543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554397957	chr5:27284546-27284547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560494692	chr5:27284599-27284600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376247797	chr5:27284615-27284616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377260499	chr5:27284626-27284627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558796157	chr5:27284652-27284653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373385591	chr5:27284660-27284661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577161861	chr5:27284667-27284668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540823646	chr5:27284682-27284683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16896608	chr5:27284689-27284690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528368309	chr5:27284709-27284710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542122095	chr5:27284710-27284711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543103871	chr5:27284732-27284733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187863569	chr5:27284769-27284770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563318617	chr5:27285921-27285922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530587283	chr5:27285967-27285968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188280420	chr5:27285972-27285973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570656131	chr5:27285975-27285976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139430832	chr5:27285991-27285992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546783039	chr5:27285992-27285993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180981821	chr5:27286038-27286039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535760832	chr5:27286058-27286059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554630940	chr5:27286063-27286064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186396165	chr5:27286080-27286081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537124698	chr5:27286091-27286092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558673953	chr5:27286140-27286141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144072770	chr5:27286170-27286171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148531019	chr5:27286184-27286185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555592684	chr5:27286202-27286203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377175656	chr5:27286210-27286211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572453377	chr5:27286242-27286243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191106398	chr5:27286265-27286266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569584350	chr5:27286312-27286313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34052192	chr5:27286320-27286321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541663195	chr5:27286347-27286348	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27284400-27284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:27285800-27308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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