Variant report

Variant	nsv980572
Chromosome Location	chr5:90811758-90820122
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	chr5:90805327..90807145-chr5:90810854..90813797,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569977272	chr5:90811781-90811782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538789543	chr5:90811844-90811845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558779663	chr5:90811876-90811877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369418315	chr5:90811901-90811902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34172281	chr5:90811925-90811926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541108786	chr5:90811932-90811933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554677116	chr5:90812022-90812023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574322795	chr5:90812035-90812036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543420656	chr5:90812059-90812060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563788184	chr5:90812061-90812062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532664501	chr5:90812096-90812097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116068761	chr5:90812119-90812120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79656594	chr5:90812124-90812125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35010274	chr5:90812419-90812420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528688907	chr5:90812550-90812551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548367916	chr5:90812559-90812560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568559792	chr5:90812580-90812581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530773929	chr5:90812583-90812584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550958476	chr5:90812584-90812585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570903875	chr5:90812607-90812608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184922254	chr5:90812644-90812645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112989136	chr5:90812655-90812656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565857423	chr5:90812669-90812670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111623721	chr5:90812722-90812723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554332718	chr5:90812729-90812730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34270023	chr5:90812736-90812737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112511813	chr5:90812819-90812820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147193030	chr5:90812881-90812882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71637341	chr5:90812908-90812909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576465146	chr5:90812920-90812921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139546673	chr5:90812927-90812928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113938986	chr5:90812945-90812946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573070500	chr5:90812979-90812980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542420770	chr5:90813015-90813016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181873621	chr5:90813085-90813086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144584123	chr5:90813106-90813107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187388872	chr5:90813126-90813127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs332527	chr5:90813133-90813134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564455206	chr5:90813145-90813146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201782389	chr5:90813154-90813155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530644404	chr5:90813171-90813172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533389639	chr5:90813176-90813177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552471734	chr5:90813205-90813206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191784077	chr5:90813241-90813242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534477635	chr5:90813271-90813272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148478456	chr5:90813336-90813337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568203963	chr5:90813360-90813361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537136013	chr5:90813365-90813366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376329073	chr5:90813374-90813375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112771108	chr5:90813398-90813399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90811400-90813600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:90813600-90814400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:90818000-90818400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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