Variant report

Variant	esv2762511
Chromosome Location	chr5:28424575-28443823
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	chr5:28407943..28408463-chr5:28427845..28428788,2	MCF-7	breast:
2	chr5:28400247..28402001-chr5:28432151..28434732,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112726213	chr5:28425498-28425499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555871592	chr5:28425500-28425501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs144694152	chr5:28425511-28425512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573598723	chr5:28425543-28425544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75792341	chr5:28425586-28425587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189155871	chr5:28425629-28425630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143965600	chr5:28425642-28425643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4413539	chr5:28425687-28425688	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560747249	chr5:28425692-28425693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527832309	chr5:28425757-28425758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531087056	chr5:28425782-28425783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542334586	chr5:28425816-28425817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114833136	chr5:28425870-28425871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531239526	chr5:28425892-28425893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549725989	chr5:28425967-28425968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181905339	chr5:28425970-28425971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566453725	chr5:28425999-28426000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373311721	chr5:28426002-28426003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532448266	chr5:28426027-28426028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550891687	chr5:28426047-28426048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs550877737	chr5:28426055-28426056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs561392732	chr5:28426074-28426075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547330664	chr5:28426115-28426116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565906225	chr5:28426235-28426236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374753472	chr5:28426237-28426238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376122187	chr5:28426241-28426242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536418845	chr5:28426248-28426249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549533602	chr5:28426256-28426257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs117575865	chr5:28426273-28426274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116199129	chr5:28426275-28426276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528909851	chr5:28426278-28426279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184301873	chr5:28426280-28426281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548682860	chr5:28426281-28426282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189125290	chr5:28426296-28426297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116594834	chr5:28426311-28426312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546619356	chr5:28426337-28426338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs565806539	chr5:28426353-28426354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181116399	chr5:28426363-28426364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560675531	chr5:28426388-28426389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566503520	chr5:28426413-28426414	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576082195	chr5:28426426-28426427	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543112759	chr5:28426479-28426480	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377232370	chr5:28426490-28426491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564903222	chr5:28426502-28426503	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531986121	chr5:28426512-28426513	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186361986	chr5:28426522-28426523	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191266374	chr5:28426586-28426587	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4131523	chr5:28426649-28426650	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548426756	chr5:28426738-28426739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145110370	chr5:28426739-28426740	ZNF genes & repeats	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28425400-28427000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:28426400-28426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:28426400-28426800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:28441000-28441200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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