Variant report

Variant	esv3355751
Chromosome Location	chr11:55265576-55269974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543653902	chr11:55268621-55268622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565042022	chr11:55268642-55268643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs61916282	chr11:55268646-55268647	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148477295	chr11:55268647-55268648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542847275	chr11:55268658-55268659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115810115	chr11:55268691-55268692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530101346	chr11:55268753-55268754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548641089	chr11:55268759-55268760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs207471897	chr11:55268769-55268770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559548040	chr11:55268784-55268785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7103342	chr11:55268805-55268806	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140809642	chr11:55268843-55268844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368957377	chr11:55268847-55268848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7115527	chr11:55268855-55268856	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs552376080	chr11:55268862-55268863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs180674609	chr11:55268867-55268868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538381998	chr11:55268868-55268869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2085664	chr11:55268869-55268870	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565589328	chr11:55268873-55268874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536236761	chr11:55268883-55268884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146035226	chr11:55268889-55268890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7121555	chr11:55268934-55268935	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576409685	chr11:55268997-55268998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185107089	chr11:55269052-55269053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369414929	chr11:55269076-55269077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530842150	chr11:55269082-55269083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190843734	chr11:55269088-55269089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376953549	chr11:55269089-55269090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573721280	chr11:55269101-55269102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577089401	chr11:55269112-55269113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371370333	chr11:55269126-55269127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574797785	chr11:55269170-55269171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141768129	chr11:55269182-55269183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563505317	chr11:55269194-55269195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531126630	chr11:55269207-55269208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552437592	chr11:55269218-55269219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564368518	chr11:55269272-55269273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146036973	chr11:55269279-55269280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7482433	chr11:55269290-55269291	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549614	chr11:55269294-55269295	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376141525	chr11:55269320-55269321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535923745	chr11:55269322-55269323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548181693	chr11:55269333-55269334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569650097	chr11:55269340-55269341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537369175	chr11:55269354-55269355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548768	chr11:55269362-55269363	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577149203	chr11:55269388-55269389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566691530	chr11:55269390-55269391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs580560	chr11:55269434-55269435	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11229970	chr11:55269438-55269439	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55268600-55270400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea

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