Variant report

Variant	nsv599284
Chromosome Location	chr5:105355890-105413098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
2	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
3	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
4	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
5	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
6	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
7	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1357718	chr5:105355890-105355891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370248660	chr5:105355903-105355904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545947989	chr5:105355926-105355927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369470706	chr5:105355941-105355942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547692440	chr5:105356003-105356004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570622718	chr5:105356022-105356023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186678024	chr5:105356038-105356039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144500613	chr5:105356042-105356043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569461120	chr5:105356120-105356121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535170847	chr5:105356143-105356144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148400255	chr5:105356242-105356243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34388646	chr5:105356264-105356265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534292741	chr5:105356296-105356297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112961844	chr5:105356306-105356307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578174045	chr5:105356322-105356323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376367560	chr5:105356351-105356352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200065344	chr5:105356404-105356405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544054739	chr5:105356423-105356424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78022541	chr5:105356427-105356428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10068054	chr5:105356434-105356435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574225910	chr5:105356490-105356491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543151653	chr5:105356507-105356508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542538205	chr5:105356554-105356555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375608469	chr5:105356596-105356597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559540418	chr5:105356627-105356628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528503144	chr5:105356688-105356689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545059731	chr5:105356706-105356707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11953421	chr5:105356717-105356718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191487188	chr5:105356738-105356739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143466845	chr5:105356775-105356776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184008348	chr5:105356788-105356789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188691013	chr5:105356814-105356815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114048059	chr5:105356828-105356829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11949343	chr5:105356857-105356858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534645435	chr5:105356874-105356875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557443900	chr5:105356922-105356923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192899670	chr5:105356976-105356977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537731682	chr5:105356980-105356981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181088192	chr5:105406814-105406815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564367127	chr5:105406820-105406821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551175011	chr5:105406862-105406863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142987877	chr5:105406883-105406884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530420178	chr5:105406921-105406922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74883410	chr5:105406986-105406987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567625635	chr5:105407110-105407111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146087423	chr5:105407174-105407175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140058921	chr5:105407255-105407256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185519490	chr5:105407312-105407313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77910363	chr5:105407322-105407323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190474680	chr5:105407351-105407352	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	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	chr5:105354600-105356000	Enhancers	Adipose Nuclei	Adipose
2	chr5:105354600-105356600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:105354800-105356600	Enhancers	Osteobl	bone
4	chr5:105355400-105356400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:105356400-105357000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:105406800-105407600	Enhancers	Pancreatic Islets	Pancreatic Islet

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