Variant report

Variant	nsv965382
Chromosome Location	chr3:75163897-75177515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11928012	chr3:75174607-75174608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs9871897	chr3:75174614-75174615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540085226	chr3:75174631-75174632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561522428	chr3:75174654-75174655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530165185	chr3:75174655-75174656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548239304	chr3:75174662-75174663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369995637	chr3:75174668-75174669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199914982	chr3:75174669-75174670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200851573	chr3:75174705-75174706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552603175	chr3:75174712-75174713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11923317	chr3:75174726-75174727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554785736	chr3:75174727-75174728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372236742	chr3:75174736-75174737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568636169	chr3:75174737-75174738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62260987	chr3:75174762-75174763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12496084	chr3:75174777-75174778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557050969	chr3:75174780-75174781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377531541	chr3:75174786-75174787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540397090	chr3:75174787-75174788	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs13065802	chr3:75174826-75174827	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557466377	chr3:75174851-75174852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573117710	chr3:75174871-75174872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532207268	chr3:75174894-75174895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540119076	chr3:75174902-75174903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545819246	chr3:75174907-75174908	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs35356845	chr3:75174926-75174927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111734904	chr3:75174937-75174938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563899231	chr3:75174972-75174973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541922795	chr3:75174973-75174974	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563761291	chr3:75174974-75174975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532072546	chr3:75174995-75174996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530898851	chr3:75175039-75175040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375800068	chr3:75175047-75175048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374205750	chr3:75175057-75175058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12492862	chr3:75175069-75175070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190027390	chr3:75175086-75175087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568673165	chr3:75175092-75175093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536020333	chr3:75175135-75175136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551189582	chr3:75175160-75175161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568982698	chr3:75175170-75175171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539140648	chr3:75175184-75175185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371379804	chr3:75175242-75175243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181238725	chr3:75175273-75175274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114952663	chr3:75175283-75175284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148340872	chr3:75175286-75175287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373235088	chr3:75175287-75175288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555192421	chr3:75175307-75175308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573509252	chr3:75175334-75175335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544041289	chr3:75175343-75175344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562537988	chr3:75175344-75175345	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75174600-75175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:75175000-75175400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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