Variant report

Variant	esv3468252
Chromosome Location	chr11:3650792-3652053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529143878	chr11:3650793-3650794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140187162	chr11:3650798-3650799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561676917	chr11:3650806-3650807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12275471	chr11:3650807-3650808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551318612	chr11:3650810-3650811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563142401	chr11:3650813-3650814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533611554	chr11:3650831-3650832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10834658	chr11:3650877-3650878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10834659	chr11:3650884-3650885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61878493	chr11:3650897-3650898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559701236	chr11:3650910-3650911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145257710	chr11:3650935-3650936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12295190	chr11:3650965-3650966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537818633	chr11:3650977-3650978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548484739	chr11:3651008-3651009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556850120	chr11:3651009-3651010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575176704	chr11:3651016-3651017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74514413	chr11:3651058-3651059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117744419	chr11:3651097-3651098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572953561	chr11:3651105-3651106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150834056	chr11:3651181-3651182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372306392	chr11:3651182-3651183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61092933	chr11:3651183-3651184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12575253	chr11:3651205-3651206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540034552	chr11:3651238-3651239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553572206	chr11:3651250-3651251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573696869	chr11:3651260-3651261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369864256	chr11:3651316-3651317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115533428	chr11:3651344-3651345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539807189	chr11:3651363-3651364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550694654	chr11:3651417-3651418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558238544	chr11:3651490-3651491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149655332	chr11:3651509-3651510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191887849	chr11:3651511-3651512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182888389	chr11:3651556-3651557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73424289	chr11:3651613-3651614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560527141	chr11:3651616-3651617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77821100	chr11:3651627-3651628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59258492	chr11:3651651-3651652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376366280	chr11:3651684-3651685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549085423	chr11:3651719-3651720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552657792	chr11:3651733-3651734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7117806	chr11:3651737-3651738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187962164	chr11:3651771-3651772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190927420	chr11:3651775-3651776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147016719	chr11:3651788-3651789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557985440	chr11:3651796-3651797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555624831	chr11:3651840-3651841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575480412	chr11:3651849-3651850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555536590	chr11:3651857-3651858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Autism	22495311	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3648200-3656200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:3648800-3662800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:3650200-3658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:3650400-3654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:3650400-3655600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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