Variant report

Variant	esv3419013
Chromosome Location	chr5:27340395-27345693
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	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578110410	chr5:27340401-27340402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191958305	chr5:27340419-27340420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560836637	chr5:27340450-27340451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62347664	chr5:27340489-27340490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549707124	chr5:27340503-27340504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560832071	chr5:27340535-27340536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377308343	chr5:27340569-27340570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552741199	chr5:27340621-27340622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549881769	chr5:27340649-27340650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372761543	chr5:27340660-27340661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538818555	chr5:27340665-27340666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547324522	chr5:27340677-27340678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184335473	chr5:27340678-27340679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189682644	chr5:27340711-27340712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554460128	chr5:27340744-27340745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573675442	chr5:27340782-27340783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181237013	chr5:27340804-27340805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185077960	chr5:27340872-27340873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377235462	chr5:27340873-27340874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368608407	chr5:27340923-27340924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59411906	chr5:27340924-27340925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111658210	chr5:27340938-27340939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199500782	chr5:27340939-27340940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189094547	chr5:27340949-27340950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545487208	chr5:27340984-27340985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139125632	chr5:27340999-27341000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115405965	chr5:27341019-27341020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78424904	chr5:27341020-27341021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371775161	chr5:27341023-27341024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543314508	chr5:27341072-27341073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181038697	chr5:27341083-27341084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531318839	chr5:27341084-27341085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569347152	chr5:27341094-27341095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549843089	chr5:27341139-27341140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564989751	chr5:27341204-27341205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532066400	chr5:27341243-27341244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547481385	chr5:27341252-27341253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186324100	chr5:27341253-27341254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149388249	chr5:27341289-27341290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548062412	chr5:27341308-27341309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538321969	chr5:27341331-27341332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569654374	chr5:27341335-27341336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558319760	chr5:27341346-27341347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72729035	chr5:27341365-27341366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143711116	chr5:27341377-27341378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577976951	chr5:27341384-27341385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189553880	chr5:27341448-27341449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554262269	chr5:27341489-27341490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572656981	chr5:27341593-27341594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370159810	chr5:27341616-27341617	Enhancers 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27330400-27343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:27341200-27341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:27341400-27341800	Enhancers	Fetal Kidney	kidney
4	chr5:27341600-27342000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:27341800-27342800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:27342400-27343000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:27342800-27343000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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