Variant report

Variant	nsv963522
Chromosome Location	chr3:79751193-79765605
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	chr3:79751071..79751988-chr6:4044472..4045061,2	MCF-7	breast:
2	chr3:79760745..79761650-chr3:174178955..174179485,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140704413	chr3:79753405-79753406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532656380	chr3:79753491-79753492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190013681	chr3:79753520-79753521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181602955	chr3:79753538-79753539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386662812	chr3:79753561-79753562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7356113	chr3:79753563-79753564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs147673803	chr3:79753594-79753595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537176671	chr3:79753684-79753685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557392165	chr3:79753688-79753689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577353840	chr3:79753726-79753727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116588398	chr3:79753806-79753807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185149196	chr3:79753860-79753861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572235011	chr3:79753891-79753892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189997875	chr3:79753896-79753897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79353453	chr3:79753906-79753907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574471406	chr3:79753922-79753923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543192593	chr3:79753967-79753968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142399058	chr3:79753968-79753969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531983421	chr3:79753994-79753995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377225925	chr3:79754008-79754009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9862790	chr3:79754024-79754025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559636494	chr3:79754030-79754031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146616286	chr3:79754034-79754035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548741878	chr3:79754041-79754042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562215487	chr3:79754062-79754063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80032076	chr3:79754063-79754064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531027654	chr3:79754068-79754069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551105506	chr3:79754096-79754097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139219099	chr3:79754161-79754162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536892188	chr3:79759003-79759004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538698708	chr3:79759028-79759029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368212986	chr3:79759029-79759030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114194286	chr3:79759047-79759048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74530557	chr3:79759086-79759087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74796237	chr3:79759099-79759100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150443094	chr3:79759129-79759130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573875120	chr3:79759132-79759133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372256161	chr3:79759159-79759160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145363878	chr3:79759182-79759183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180683501	chr3:79759276-79759277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576309144	chr3:79759277-79759278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185947423	chr3:79759306-79759307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565009544	chr3:79759328-79759329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114658997	chr3:79759331-79759332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527430799	chr3:79759333-79759334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376490197	chr3:79759350-79759351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375223564	chr3:79759362-79759363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374418613	chr3:79759395-79759396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190800965	chr3:79759449-79759450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560771798	chr3:79759533-79759534	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79753400-79753800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:79753400-79754200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:79753400-79754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:79753800-79754200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:79759000-79759400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:79759200-79759600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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