Variant report

Variant	esv3446174
Chromosome Location	chr11:54814488-54820240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 452 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184946417	chr11:54814490-54814491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113762455	chr11:54814493-54814494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180951312	chr11:54814496-54814497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138063361	chr11:54814513-54814514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541028437	chr11:54814517-54814518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28881932	chr11:54814548-54814549	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370716900	chr11:54814554-54814555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149543021	chr11:54814560-54814561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548263546	chr11:54814563-54814564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147235512	chr11:54814586-54814587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531012068	chr11:54814609-54814610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552875254	chr11:54814622-54814623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571067211	chr11:54814659-54814660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535290305	chr11:54814672-54814673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553825887	chr11:54814684-54814685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374827710	chr11:54814685-54814686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565663134	chr11:54814689-54814690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536380604	chr11:54814695-54814696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373501638	chr11:54814696-54814697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554365304	chr11:54814735-54814736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576226694	chr11:54814741-54814742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543259741	chr11:54814750-54814751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558670134	chr11:54814780-54814781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529361279	chr11:54814790-54814791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549503450	chr11:54814795-54814796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186238607	chr11:54814796-54814797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192094258	chr11:54814818-54814819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs80162891	chr11:54814829-54814830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183493678	chr11:54814834-54814835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534921919	chr11:54814842-54814843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530018246	chr11:54814843-54814844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541969423	chr11:54814870-54814871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563622499	chr11:54814875-54814876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143028330	chr11:54814907-54814908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569435013	chr11:54814918-54814919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551575727	chr11:54814919-54814920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188387976	chr11:54814971-54814972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571580869	chr11:54814977-54814978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28789760	chr11:54814992-54814993	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75416307	chr11:54815001-54815002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191302462	chr11:54815006-54815007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376375284	chr11:54815011-54815012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142902086	chr11:54815020-54815021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112264976	chr11:54815034-54815035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573620996	chr11:54815044-54815045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80050723	chr11:54815055-54815056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569651118	chr11:54815057-54815058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79518311	chr11:54815060-54815061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76260345	chr11:54815070-54815071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75777261	chr11:54815078-54815079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54812000-54825400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:54812200-54825000	ZNF genes & repeats	Liver	Liver
3	chr11:54814000-54816200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:54814400-54815600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54817000-54817400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:54818400-54821200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:54819400-54820000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr11:54819400-54820000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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