Variant report

Variant	nsv968915
Chromosome Location	chr5:59754305-59756498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148456733	chr5:59754305-59754306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556349765	chr5:59754363-59754364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78132309	chr5:59754381-59754382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142547721	chr5:59754407-59754408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376185296	chr5:59754448-59754449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542452756	chr5:59754459-59754460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150539683	chr5:59754518-59754519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536811184	chr5:59754520-59754521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576942488	chr5:59754534-59754535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192832367	chr5:59754538-59754539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376130805	chr5:59754562-59754563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537582961	chr5:59754572-59754573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149831403	chr5:59754578-59754579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369713557	chr5:59754579-59754580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200447317	chr5:59754583-59754584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386688440	chr5:59754584-59754585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138802800	chr5:59754585-59754586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139453457	chr5:59754600-59754601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577173461	chr5:59754614-59754615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370172580	chr5:59754622-59754623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144228302	chr5:59754623-59754624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552680936	chr5:59754627-59754628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573620149	chr5:59754628-59754629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147955992	chr5:59754629-59754630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562577630	chr5:59754707-59754708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531824214	chr5:59754728-59754729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374459795	chr5:59754736-59754737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545124813	chr5:59754745-59754746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75844295	chr5:59754792-59754793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375899762	chr5:59754806-59754807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56310406	chr5:59754807-59754808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528537021	chr5:59754815-59754816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397788791	chr5:59754829-59754830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527651826	chr5:59754841-59754842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7712662	chr5:59754850-59754851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188166817	chr5:59754910-59754911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56226035	chr5:59754922-59754923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13183070	chr5:59754945-59754946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145669617	chr5:59754951-59754952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56217581	chr5:59754974-59754975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570199701	chr5:59754981-59754982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117701601	chr5:59754982-59754983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557529730	chr5:59755117-59755118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571028926	chr5:59755175-59755176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533516802	chr5:59755185-59755186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553380684	chr5:59755254-59755255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573583893	chr5:59755296-59755297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191645102	chr5:59755348-59755349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540339754	chr5:59755391-59755392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565502454	chr5:59755433-59755434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59749800-59760600	Weak transcription	Aorta	Aorta
4	chr5:59752400-59778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:59752600-59758400	Weak transcription	HepG2	liver

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