Variant report

Variant	nsv975928
Chromosome Location	chr11:56279445-56280681
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	POLR2A	chr11:56280178-56280240	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OR5M6P	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184176970	chr11:56279830-56279831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537869001	chr11:56279839-56279840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556813349	chr11:56279864-56279865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575188943	chr11:56279874-56279875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552793524	chr11:56279877-56279878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78047980	chr11:56279907-56279908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201352530	chr11:56279918-56279919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557575480	chr11:56279925-56279926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573005909	chr11:56279960-56279961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539919300	chr11:56279966-56279967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558237251	chr11:56279970-56279971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572200108	chr11:56279978-56279979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139309615	chr11:56279989-56279990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544260159	chr11:56280039-56280040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563166962	chr11:56280060-56280061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533717854	chr11:56280085-56280086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56394926	chr11:56280110-56280111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144076763	chr11:56280134-56280135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188628745	chr11:56280157-56280158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549179920	chr11:56280167-56280168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191954643	chr11:56280197-56280198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537831978	chr11:56280235-56280236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377087041	chr11:56280250-56280251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568806615	chr11:56280263-56280264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539311182	chr11:56280284-56280285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145997892	chr11:56280285-56280286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182896035	chr11:56280321-56280322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139998100	chr11:56280378-56280379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555155802	chr11:56280410-56280411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73469369	chr11:56280411-56280412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544224542	chr11:56280444-56280445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556149375	chr11:56280445-56280446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577722082	chr11:56280459-56280460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75460118	chr11:56280478-56280479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560861200	chr11:56280479-56280480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527859270	chr11:56280492-56280493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543237947	chr11:56280493-56280494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561214436	chr11:56280520-56280521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531734937	chr11:56280534-56280535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576523192	chr11:56280537-56280538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs594568	chr11:56280589-56280590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557645883	chr11:56280594-56280595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113276829	chr11:56280599-56280600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151256452	chr11:56280618-56280619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566794183	chr11:56280629-56280630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs680490	chr11:56280634-56280635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543241012	chr11:56280653-56280654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555585141	chr11:56280659-56280660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560022309	chr11:56280666-56280667	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56279800-56281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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