Variant report

Variant	esv3520588
Chromosome Location	chr11:54836073-54851707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1102 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376350434	chr11:54836074-54836075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537609223	chr11:54836075-54836076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559314704	chr11:54836079-54836080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577445960	chr11:54836081-54836082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538292290	chr11:54836082-54836083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553722985	chr11:54836088-54836089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs79621875	chr11:54836095-54836096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542707633	chr11:54836100-54836101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560605843	chr11:54836108-54836109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs1851615	chr11:54836116-54836117	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148420729	chr11:54836117-54836118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564863752	chr11:54836120-54836121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191296443	chr11:54836132-54836133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561410743	chr11:54836136-54836137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140503715	chr11:54836159-54836160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144455660	chr11:54836160-54836161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530003442	chr11:54836164-54836165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548716723	chr11:54836188-54836189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570138857	chr11:54836249-54836250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182911835	chr11:54836255-54836256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552791060	chr11:54836261-54836262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543477854	chr11:54836262-54836263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535327057	chr11:54836264-54836265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1851614	chr11:54836269-54836270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187264514	chr11:54836282-54836283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368937952	chr11:54836299-54836300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535809518	chr11:54836308-54836309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554263794	chr11:54836320-54836321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191404268	chr11:54836357-54836358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372167775	chr11:54836365-54836366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572919635	chr11:54836366-54836367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540788985	chr11:54836411-54836412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543246509	chr11:54836412-54836413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140395447	chr11:54836414-54836415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150393392	chr11:54836427-54836428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577110131	chr11:54836431-54836432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541328587	chr11:54836446-54836447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559351410	chr11:54836449-54836450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530130289	chr11:54836469-54836470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548582826	chr11:54836501-54836502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564347017	chr11:54836505-54836506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563809527	chr11:54836534-54836535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs533074554	chr11:54836535-54836536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183931385	chr11:54836537-54836538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552854209	chr11:54836552-54836553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187720482	chr11:54836559-54836560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571030366	chr11:54836597-54836598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189594505	chr11:54836631-54836632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181063640	chr11:54836642-54836643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs193100358	chr11:54836649-54836650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:54836200-54837600	ZNF genes & repeats	Liver	Liver
3	chr11:54836600-54837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:54838800-54839200	Active TSS	Aorta	Aorta
5	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
6	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr11:54840200-54842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose

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