Variant report

Variant	nsv970015
Chromosome Location	chr5:99959651-99967633
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	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116001973	chr5:99959810-99959811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368438741	chr5:99959820-99959821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6595337	chr5:99959830-99959831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566186680	chr5:99959847-99959848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374430510	chr5:99959858-99959859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576437296	chr5:99959860-99959861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs247931	chr5:99959864-99959865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139085848	chr5:99959907-99959908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115810926	chr5:99959932-99959933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537393076	chr5:99959952-99959953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371205741	chr5:99959967-99959968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534655588	chr5:99959974-99959975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553233043	chr5:99960093-99960094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187980953	chr5:99960128-99960129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114407705	chr5:99960174-99960175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191300179	chr5:99960175-99960176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558312055	chr5:99961478-99961479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576602715	chr5:99961530-99961531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112440556	chr5:99961533-99961534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs40581	chr5:99961557-99961558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376906858	chr5:99961561-99961562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144551034	chr5:99961568-99961569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17158037	chr5:99961629-99961630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567394013	chr5:99961653-99961654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187210074	chr5:99961715-99961716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58008013	chr5:99961746-99961747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536786505	chr5:99961754-99961755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528765724	chr5:99961800-99961801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547237748	chr5:99961826-99961827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551949286	chr5:99961847-99961848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191629563	chr5:99961863-99961864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114173177	chr5:99961878-99961879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116178102	chr5:99961899-99961900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568963167	chr5:99961907-99961908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560541724	chr5:99961928-99961929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6862495	chr5:99962000-99962001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566493745	chr5:99962124-99962125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148471845	chr5:99962149-99962150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58926335	chr5:99962193-99962194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181795915	chr5:99962224-99962225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537642198	chr5:99962245-99962246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555987541	chr5:99962287-99962288	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99959800-99960200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:99961400-99962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:99961800-99962400	Enhancers	Cortex derived primary cultured neurospheres	brain

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