Variant report

Variant	esv3424642
Chromosome Location	chr11:26408826-26411074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12287530	chr11:26409416-26409417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571395246	chr11:26409419-26409420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556671444	chr11:26409432-26409433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538386565	chr11:26409476-26409477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550643999	chr11:26409561-26409562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77486123	chr11:26409568-26409569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12274319	chr11:26409581-26409582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181744601	chr11:26409606-26409607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12274334	chr11:26409630-26409631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12294597	chr11:26409680-26409681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12287626	chr11:26409692-26409693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12294604	chr11:26409729-26409730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555548325	chr11:26409735-26409736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12274387	chr11:26409739-26409740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1461376	chr11:26409824-26409825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562521812	chr11:26409871-26409872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533187780	chr11:26409900-26409901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545016540	chr11:26409914-26409915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1461377	chr11:26409917-26409918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527980380	chr11:26409942-26409943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs67498125	chr11:26409956-26409957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117498265	chr11:26410061-26410062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528961268	chr11:26410083-26410084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12785352	chr11:26410129-26410130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12275964	chr11:26410131-26410132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185923602	chr11:26410138-26410139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145926210	chr11:26410139-26410140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113036918	chr11:26410154-26410155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188820644	chr11:26410166-26410167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2126185	chr11:26410186-26410187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555268608	chr11:26410233-26410234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573807145	chr11:26410341-26410342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556838713	chr11:26410357-26410358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564970341	chr11:26410380-26410381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11029543	chr11:26410396-26410397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550459163	chr11:26410421-26410422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542566424	chr11:26410426-26410427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146148743	chr11:26410445-26410446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372594729	chr11:26410447-26410448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568945600	chr11:26410488-26410489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12289491	chr11:26410512-26410513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577735082	chr11:26410575-26410576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181456691	chr11:26410577-26410578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7480892	chr11:26410587-26410588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs545849638	chr11:26410594-26410595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375703359	chr11:26410601-26410602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572514867	chr11:26410614-26410615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563942632	chr11:26410619-26410620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566110735	chr11:26410692-26410693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17243287	chr11:26410703-26410704	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26409400-26410800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:26410200-26411000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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