Variant report

Variant	nsv523101
Chromosome Location	chr11:57843506-57871866
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	ARID3A	chr11:57843315-57843588	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:57843233-57843677	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:57843424-57843525	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:57843315-57843635	HepG2	liver:	n/a	n/a
5	CTCF	chr11:57870800-57870950	K562	blood:	n/a	n/a
6	CTCF	chr11:57870660-57870810	K562	blood:	n/a	n/a
7	E2F4	chr11:57843257-57843601	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr11:57861555-57861605	GM12878	blood:	n/a	n/a
9	EP300	chr11:57864652-57865487	T-47D	breast:	n/a	n/a
10	EP300	chr11:57843477-57843515	HepG2	liver:	n/a	n/a
11	EP300	chr11:57864864-57865325	T-47D	breast:	n/a	n/a
12	FAM48A	chr11:57843863-57843941	GM12878	blood:	n/a	n/a
13	FAM48A	chr11:57867041-57867211	GM12878	blood:	n/a	n/a
14	FOS	chr11:57856486-57856655	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:57856618-57856621	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:57843156-57843667	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:57843194-57843694	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:57856469-57856661	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:57843218-57843630	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:57843233-57843657	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr11:57843238-57843559	HepG2	liver:	n/a	n/a
22	FOXA1	chr11:57864795-57865379	T-47D	breast:	n/a	n/a
23	FOXA1	chr11:57864621-57865459	T-47D	breast:	n/a	n/a
24	GATA3	chr11:57864677-57865551	T-47D	breast:	n/a	n/a
25	GATA3	chr11:57864797-57865539	T-47D	breast:	n/a	n/a
26	JUN	chr11:57843281-57843607	HepG2	liver:	n/a	n/a
27	JUND	chr11:57864656-57865505	T-47D	breast:	n/a	n/a
28	JUND	chr11:57843331-57843517	HepG2	liver:	n/a	chr11:57843421-57843432
29	JUND	chr11:57843245-57843621	HepG2	liver:	n/a	chr11:57843421-57843432
30	MAFF	chr11:57847219-57847503	HepG2	liver:	n/a	chr11:57847365-57847383
31	MAFK	chr11:57847212-57847504	HepG2	liver:	n/a	chr11:57847367-57847382
32	MAFK	chr11:57863554-57863789	HepG2	liver:	n/a	chr11:57863670-57863681 chr11:57863670-57863681 chr11:57863671-57863682
33	MAFK	chr11:57847257-57847457	IMR90	lung:	n/a	chr11:57847367-57847382
34	MAFK	chr11:57847222-57847509	HepG2	liver:	n/a	chr11:57847367-57847382
35	MXI1	chr11:57847113-57847198	GM12878	blood:	n/a	n/a
36	MYC	chr11:57843346-57843660	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr11:57843317-57843600	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:57843396-57843566	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:57843357-57843546	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr11:57843324-57843626	IMR90	lung:	n/a	n/a
41	RCOR1	chr11:57842852-57844109	IMR90	lung:	n/a	n/a
42	SETDB1	chr11:57869952-57870323	U2OS	brain:	n/a	n/a
43	STAT3	chr11:57843200-57843610	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:57843201-57843604	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:57853418-57853448	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:57843229-57843658	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:57853983-57854119	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254853	TF binding region
OR9L1P	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2513725	chr11:57843506-57843507	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200216340	chr11:57843507-57843508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553646990	chr11:57843527-57843528	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148654838	chr11:57843602-57843603	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2513724	chr11:57843609-57843610	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367834964	chr11:57843613-57843614	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371367200	chr11:57843616-57843617	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531286198	chr11:57843650-57843651	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572082523	chr11:57843653-57843654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142237166	chr11:57843682-57843683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs151215628	chr11:57843688-57843689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs73476501	chr11:57843706-57843707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs189022618	chr11:57843722-57843723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576506427	chr11:57843764-57843765	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs117091508	chr11:57843819-57843820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542255267	chr11:57843883-57843884	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536194562	chr11:57843919-57843920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554746474	chr11:57843954-57843955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201923160	chr11:57844001-57844002	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181373794	chr11:57844021-57844022	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544701718	chr11:57844034-57844035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140469352	chr11:57844036-57844037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs578147825	chr11:57844048-57844049	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185699511	chr11:57844058-57844059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189623849	chr11:57844104-57844105	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367736900	chr11:57844148-57844149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371974642	chr11:57844173-57844174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180898907	chr11:57844207-57844208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542982019	chr11:57844219-57844220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185899910	chr11:57844234-57844235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12802761	chr11:57844258-57844259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572731431	chr11:57844260-57844261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375083951	chr11:57844357-57844358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6591455	chr11:57844371-57844372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570959925	chr11:57844394-57844395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549152003	chr11:57844416-57844417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564356634	chr11:57844493-57844494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532084601	chr11:57844517-57844518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547359283	chr11:57844525-57844526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374093820	chr11:57844563-57844564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533310750	chr11:57844566-57844567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536524390	chr11:57844577-57844578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554600505	chr11:57844646-57844647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145644840	chr11:57844670-57844671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541942635	chr11:57844679-57844680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563091127	chr11:57844693-57844694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558796150	chr11:57844715-57844716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578138253	chr11:57844749-57844750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565732608	chr11:57844832-57844833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538805762	chr11:57844836-57844837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
2	chr11:57840800-57847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57842800-57844000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:57843000-57843600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:57843000-57843800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:57843000-57844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:57843000-57844000	Enhancers	HepG2	liver
8	chr11:57843000-57844000	Enhancers	NHEK	skin
9	chr11:57843000-57844200	Enhancers	HSMM	muscle
10	chr11:57843200-57844000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57843400-57843800	Enhancers	HSMMtube	muscle
12	chr11:57843400-57844000	Enhancers	HMEC	breast
13	chr11:57844000-57846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:57844200-57844600	Weak transcription	HSMM	muscle
15	chr11:57844600-57845000	Enhancers	HSMM	muscle
16	chr11:57847200-57847400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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