Variant report

Variant	nsv553172
Chromosome Location	chr11:4586873-4592718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12789853	chr11:4586873-4586874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557653793	chr11:4586886-4586887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566915512	chr11:4586890-4586891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571435414	chr11:4586899-4586900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533818610	chr11:4586902-4586903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76403586	chr11:4586925-4586926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187629706	chr11:4586941-4586942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147863807	chr11:4586957-4586958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577242039	chr11:4586976-4586977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76611971	chr11:4586984-4586985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554117527	chr11:4586988-4586989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377370562	chr11:4587005-4587006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193207755	chr11:4587007-4587008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574024551	chr11:4587008-4587009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61883563	chr11:4587043-4587044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141654369	chr11:4587060-4587061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562032410	chr11:4587067-4587068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372688406	chr11:4587073-4587074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529441827	chr11:4587085-4587086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116821680	chr11:4587086-4587087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145441841	chr11:4587097-4587098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561652155	chr11:4587127-4587128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78981978	chr11:4587142-4587143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10836283	chr11:4587163-4587164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567153982	chr11:4587195-4587196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111637722	chr11:4587197-4587198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534125646	chr11:4587204-4587205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371708240	chr11:4587215-4587216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10836284	chr11:4587220-4587221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10836285	chr11:4587224-4587225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146097145	chr11:4587230-4587231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58444844	chr11:4587231-4587232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375361300	chr11:4587232-4587233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11032827	chr11:4587253-4587254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs138500119	chr11:4587261-4587262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564490656	chr11:4587269-4587270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12278934	chr11:4587272-4587273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11032828	chr11:4587292-4587293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10836286	chr11:4587303-4587304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572345176	chr11:4587321-4587322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542441906	chr11:4587339-4587340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561164366	chr11:4587349-4587350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12278975	chr11:4587367-4587368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10836287	chr11:4587373-4587374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12291768	chr11:4587405-4587406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531275557	chr11:4587410-4587411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76282688	chr11:4587440-4587441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542455004	chr11:4587447-4587448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374940851	chr11:4587448-4587449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533980531	chr11:4587456-4587457	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:7 , 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
5	chr11:4592400-4593400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:4592600-4593600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:4592600-4593600	Enhancers	H9 Cell Line	embryonic stem cell

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