Variant report

Variant	nsv1028573
Chromosome Location	chr5:45753279-45829656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:44952363..44953098-chr5:45773975..45774930,2	MCF-7	breast:
2	chr5:45038244..45038751-chr5:45773997..45774955,2	MCF-7	breast:
3	chr11:62608627..62609151-chr5:45773998..45774657,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-14	chr5:45753168-45753300	NONHSAT101363

Extended variants
information (count: 190 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139306974	chr5:45753284-45753285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553980089	chr5:45777614-45777615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545236724	chr5:45777625-45777626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564927753	chr5:45777667-45777668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530670499	chr5:45777715-45777716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375924445	chr5:45777762-45777763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113146736	chr5:45777764-45777765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572319238	chr5:45777782-45777783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79454542	chr5:45777783-45777784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529712890	chr5:45777787-45777788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76824798	chr5:45777790-45777791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182148728	chr5:45794441-45794442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547703973	chr5:45794486-45794487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75986005	chr5:45794496-45794497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569908859	chr5:45794502-45794503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546704002	chr5:45794503-45794504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566876269	chr5:45794513-45794514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528368560	chr5:45794526-45794527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551707101	chr5:45794532-45794533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571430061	chr5:45794546-45794547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543355363	chr5:45794577-45794578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537282901	chr5:45794581-45794582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377125462	chr5:45794600-45794601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567278900	chr5:45794601-45794602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112051292	chr5:45794625-45794626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142836116	chr5:45794646-45794647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369839699	chr5:45794652-45794653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146102280	chr5:45794653-45794654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186827432	chr5:45794677-45794678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372628754	chr5:45794683-45794684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36031527	chr5:45794710-45794711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558833229	chr5:45794711-45794712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575420746	chr5:45794719-45794720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561419245	chr5:45795410-45795411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77671320	chr5:45795425-45795426	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114024599	chr5:45795435-45795436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560872300	chr5:45795478-45795479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189431678	chr5:45795509-45795510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs541090364	chr5:45795511-45795512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529908047	chr5:45795533-45795534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546279875	chr5:45795564-45795565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536151567	chr5:45795567-45795568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566274363	chr5:45795628-45795629	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114249099	chr5:45795635-45795636	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148588902	chr5:45795670-45795671	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568526738	chr5:45795693-45795694	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538111031	chr5:45795703-45795704	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181034830	chr5:45795717-45795718	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371538872	chr5:45795721-45795722	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185623056	chr5:45795722-45795723	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45777600-45777800	Enhancers	Pancreas	Pancrea
2	chr5:45794400-45794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:45795400-45795800	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr5:45795600-45796000	ZNF genes & repeats	GM12878-XiMat	blood
5	chr5:45800200-45802600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:45800400-45801600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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