Variant report

Variant	nsv553893
Chromosome Location	chr11:25751144-25753430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr11:25751809-25752124	HepG2	liver:	n/a	n/a
2	MAFK	chr11:25751834-25752140	IMR90	lung:	n/a	n/a
3	MAFK	chr11:25753280-25753534	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr11:25751805-25752143	HepG2	liver:	n/a	n/a
5	MAFK	chr11:25751837-25752125	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:25751866-25751945	MCF10A-Er-Src	breast:	n/a	n/a
7	SMC3	chr11:25753284-25753389	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000254456	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373477026	chr11:25751202-25751203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141879040	chr11:25751253-25751254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529384202	chr11:25751259-25751260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549106847	chr11:25751275-25751276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569157386	chr11:25751288-25751289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539736581	chr11:25751307-25751308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551748526	chr11:25751310-25751311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7938971	chr11:25751372-25751373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534295021	chr11:25751492-25751493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7939196	chr11:25751503-25751504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145556057	chr11:25751524-25751525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535591642	chr11:25751545-25751546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557183410	chr11:25751579-25751580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191019843	chr11:25751598-25751599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7939236	chr11:25751647-25751648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564195391	chr11:25751648-25751649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137903351	chr11:25751653-25751654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4144751	chr11:25751687-25751688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576306568	chr11:25751695-25751696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562143513	chr11:25751697-25751698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529345616	chr11:25751721-25751722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555055695	chr11:25751737-25751738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550704344	chr11:25751749-25751750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375123366	chr11:25751757-25751758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533305142	chr11:25751773-25751774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4144750	chr11:25751782-25751783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11028879	chr11:25751791-25751792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534542973	chr11:25751839-25751840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142360202	chr11:25751840-25751841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371175174	chr11:25751888-25751889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs386751820	chr11:25751898-25751899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs11028881	chr11:25751900-25751901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557046899	chr11:25751904-25751905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546898846	chr11:25751910-25751911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs115644376	chr11:25751923-25751924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567103687	chr11:25751979-25751980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4923298	chr11:25752000-25752001	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371340620	chr11:25752020-25752021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs4923299	chr11:25752025-25752026	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183237785	chr11:25752031-25752032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150496516	chr11:25752072-25752073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs67032345	chr11:25752073-25752074	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544204576	chr11:25752085-25752086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs557304970	chr11:25752097-25752098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562615142	chr11:25752127-25752128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536728478	chr11:25752604-25752605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12360774	chr11:25752616-25752617	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12363608	chr11:25752620-25752621	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543263679	chr11:25752646-25752647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561528358	chr11:25752663-25752664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25751200-25751800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:25752600-25755000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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