Variant report

Variant	nsv1033762
Chromosome Location	chr5:101060073-101096015
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	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:

Extended variants
information (count: 195 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs560843891	chr5:101064639-101064640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564281905	chr5:101064668-101064669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145631074	chr5:101064687-101064688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370510879	chr5:101064846-101064847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76050555	chr5:101064860-101064861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190501714	chr5:101064861-101064862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183112366	chr5:101064874-101064875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551695887	chr5:101064926-101064927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569970626	chr5:101064932-101064933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377474123	chr5:101064948-101064949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148706415	chr5:101064990-101064991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142271546	chr5:101065008-101065009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80022509	chr5:101065048-101065049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558654775	chr5:101065095-101065096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151285002	chr5:101065119-101065120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553189354	chr5:101065135-101065136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577810125	chr5:101065146-101065147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545183904	chr5:101065156-101065157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370272984	chr5:101065157-101065158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575585542	chr5:101065189-101065190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542663469	chr5:101065194-101065195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187000580	chr5:101065270-101065271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116045214	chr5:101065282-101065283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528055632	chr5:101065286-101065287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554796839	chr5:101065316-101065317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11959481	chr5:101065334-101065335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564818107	chr5:101065413-101065414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533355268	chr5:101065418-101065419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529497633	chr5:101065445-101065446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117608600	chr5:101065503-101065504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373730004	chr5:101065528-101065529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531075952	chr5:101065531-101065532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192731988	chr5:101065532-101065533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75531046	chr5:101065577-101065578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532504191	chr5:101065599-101065600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182817722	chr5:101065603-101065604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140599412	chr5:101065665-101065666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187780428	chr5:101065707-101065708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73781039	chr5:101065708-101065709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557161319	chr5:101065711-101065712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76328670	chr5:101065776-101065777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533414013	chr5:101065789-101065790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190341353	chr5:101081429-101081430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573263487	chr5:101081454-101081455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138689541	chr5:101081490-101081491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559314192	chr5:101081495-101081496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565331999	chr5:101081502-101081503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532226326	chr5:101081504-101081505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550714727	chr5:101081505-101081506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562530210	chr5:101081593-101081594	Enhancers	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	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
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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101064600-101064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:101064800-101065400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:101064800-101065600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:101064800-101065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:101081400-101082000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:101090800-101092200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:101093800-101094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:101093800-101094200	Enhancers	Pancreas	Pancrea
9	chr5:101094200-101095200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:101095200-101096200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:101095200-101096200	Enhancers	Adipose Nuclei	Adipose

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