Variant report

Variant	nsv519327
Chromosome Location	chr11:4587253-4592277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11032827	chr11:4587253-4587254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138500119	chr11:4587261-4587262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564490656	chr11:4587269-4587270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12278934	chr11:4587272-4587273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11032828	chr11:4587292-4587293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10836286	chr11:4587303-4587304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572345176	chr11:4587321-4587322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542441906	chr11:4587339-4587340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561164366	chr11:4587349-4587350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12278975	chr11:4587367-4587368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10836287	chr11:4587373-4587374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12291768	chr11:4587405-4587406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531275557	chr11:4587410-4587411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76282688	chr11:4587440-4587441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542455004	chr11:4587447-4587448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374940851	chr11:4587448-4587449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533980531	chr11:4587456-4587457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200530339	chr11:4587477-4587478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397848259	chr11:4587478-4587479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76025689	chr11:4587479-4587480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528018790	chr11:4587491-4587492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549434926	chr11:4587507-4587508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560734597	chr11:4587509-4587510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538059996	chr11:4587522-4587523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376565670	chr11:4587561-4587562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142283625	chr11:4587562-4587563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185641806	chr11:4587565-4587566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571056473	chr11:4587566-4587567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528399830	chr11:4587578-4587579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538247357	chr11:4587585-4587586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546453693	chr11:4587617-4587618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564547217	chr11:4587638-4587639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7111884	chr11:4587663-4587664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11032832	chr11:4587676-4587677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377493673	chr11:4587705-4587706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554582089	chr11:4587713-4587714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576261973	chr11:4587722-4587723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543643551	chr11:4587739-4587740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371330146	chr11:4587741-4587742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16914046	chr11:4587763-4587764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7126718	chr11:4587792-4587793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545055509	chr11:4587807-4587808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115918331	chr11:4587829-4587830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575615700	chr11:4587830-4587831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537902278	chr11:4587855-4587856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543266646	chr11:4587861-4587862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149080694	chr11:4587863-4587864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531786520	chr11:4587876-4587877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138004639	chr11:4587882-4587883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113944541	chr11:4587884-4587885	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4586400-4588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:4586600-4588600	Enhancers	Adipose Nuclei	Adipose
3	chr11:4586800-4588600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:4590400-4590600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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