Variant report

Variant	esv3362372
Chromosome Location	chr11:56843301-56845474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570822827	chr11:56843308-56843309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142363700	chr11:56843319-56843320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546703838	chr11:56843330-56843331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2957186	chr11:56843353-56843354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376412780	chr11:56843385-56843386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535615339	chr11:56843414-56843415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557129853	chr11:56843463-56843464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115777182	chr11:56843482-56843483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs730206	chr11:56843490-56843491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553157172	chr11:56843493-56843494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558052422	chr11:56843535-56843536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2960559	chr11:56843561-56843562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs730205	chr11:56843652-56843653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs688873	chr11:56843655-56843656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573680268	chr11:56843658-56843659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112853418	chr11:56843665-56843666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139296777	chr11:56843722-56843723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572029	chr11:56843726-56843727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12272717	chr11:56843727-56843728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578070511	chr11:56843733-56843734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375068232	chr11:56843771-56843772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533175369	chr11:56843807-56843808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545294154	chr11:56843847-56843848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75896441	chr11:56843849-56843850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs744262	chr11:56843861-56843862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527621696	chr11:56843879-56843880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546963064	chr11:56843884-56843885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561987601	chr11:56843922-56843923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536974144	chr11:56843941-56843942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201619658	chr11:56843998-56843999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5792019	chr11:56843999-56844000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199920763	chr11:56844020-56844021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200874976	chr11:56844021-56844022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202012093	chr11:56844023-56844024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186800990	chr11:56844076-56844077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140229107	chr11:56844085-56844086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574278601	chr11:56844100-56844101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56978560	chr11:56844101-56844102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370949254	chr11:56844102-56844103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142062383	chr11:56844103-56844104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201191832	chr11:56844104-56844105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71460543	chr11:56844111-56844112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191705213	chr11:56844112-56844113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71460544	chr11:56844113-56844114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181361528	chr11:56844114-56844115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201129841	chr11:56844116-56844117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186696686	chr11:56844124-56844125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71058076	chr11:56844125-56844126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190186748	chr11:56844128-56844129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60652273	chr11:56844138-56844139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56840200-56851600	Weak transcription	Spleen	Spleen
2	chr11:56843200-56843600	Weak transcription	A549	lung
3	chr11:56845000-56845400	Enhancers	A549	lung

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