Variant report

Variant	nsv983231
Chromosome Location	chr11:56516214-56543432
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	ATF3	chr11:56517803-56518031	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:56517722-56518003	MCF-7	breast:	n/a	chr11:56517867-56517884
3	CEBPB	chr11:56517644-56518052	HepG2	liver:	n/a	chr11:56517867-56517884
4	CEBPB	chr11:56517651-56518070	H1-hESC	embryonic stem cell:	n/a	chr11:56517867-56517884
5	CEBPB	chr11:56517620-56518023	HepG2	liver:	n/a	chr11:56517867-56517884
6	CEBPB	chr11:56517634-56517959	IMR90	lung:	n/a	chr11:56517867-56517884
7	CEBPB	chr11:56517717-56517991	A549	lung:	n/a	chr11:56517867-56517884
8	CEBPB	chr11:56517810-56517951	K562	blood:	n/a	chr11:56517867-56517884
9	CEBPB	chr11:56517761-56517904	HepG2	liver:	n/a	chr11:56517867-56517884
10	CTCF	chr11:56517741-56517991	H1-hESC	embryonic stem cell:	n/a	chr11:56517900-56517918
11	CTCF	chr11:56517860-56518010	HEK293	kidney:	n/a	chr11:56517900-56517918
12	CTCF	chr11:56517800-56517950	HEK293	kidney:	n/a	chr11:56517900-56517918
13	CTCF	chr11:56517832-56517973	HepG2	liver:	n/a	chr11:56517900-56517918
14	CTCF	chr11:56517920-56518070	GM12864	blood:	n/a	n/a
15	CTCF	chr11:56517849-56517972	Gliobla	brain:	n/a	chr11:56517900-56517918
16	CTCF	chr11:56517799-56517990	HepG2	liver:	n/a	chr11:56517900-56517918
17	CTCF	chr11:56517820-56517970	HepG2	liver:	n/a	chr11:56517900-56517918
18	CTCF	chr11:56517820-56517970	SK-N-SH_RA	brain:	n/a	chr11:56517900-56517918
19	CTCF	chr11:56517840-56517990	GM12873	blood:	n/a	chr11:56517900-56517918
20	CTCF	chr11:56517860-56518010	NB4	blood:	n/a	chr11:56517900-56517918
21	CTCF	chr11:56517825-56517982	H1-hESC	embryonic stem cell:	n/a	chr11:56517900-56517918
22	CTCF	chr11:56517820-56517970	GM12871	blood:	n/a	chr11:56517900-56517918
23	CTCF	chr11:56517800-56517950	GM12874	blood:	n/a	chr11:56517900-56517918
24	CTCF	chr11:56517867-56517954	A549	lung:	n/a	chr11:56517900-56517918
25	CTCF	chr11:56517800-56517950	GM12873	blood:	n/a	chr11:56517900-56517918
26	CTCF	chr11:56517860-56518010	GM12872	blood:	n/a	chr11:56517900-56517918
27	CTCF	chr11:56517860-56518010	HepG2	liver:	n/a	chr11:56517900-56517918
28	CTCF	chr11:56517860-56518010	A549	lung:	n/a	chr11:56517900-56517918
29	CTCF	chr11:56517782-56517993	H1-hESC	embryonic stem cell:	n/a	chr11:56517900-56517918
30	E2F4	chr11:56532466-56532666	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr11:56532476-56532818	SK-N-SH	brain:	n/a	n/a
32	FOS	chr11:56532436-56532802	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:56532445-56532801	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:56532503-56532780	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:56532491-56532801	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr11:56532511-56532761	A549	lung:	n/a	n/a
37	FOSL2	chr11:56532337-56532811	SK-N-SH	brain:	n/a	n/a
38	FOSL2	chr11:56532526-56532818	SK-N-SH	brain:	n/a	n/a
39	GATA2	chr11:56532894-56533232	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr11:56532297-56532978	SK-N-SH	brain:	n/a	chr11:56532680-56532687 chr11:56532675-56532691 chr11:56532678-56532688 chr11:56532673-56532694
41	GATA3	chr11:56532292-56532924	A549	lung:	n/a	chr11:56532680-56532687 chr11:56532675-56532691 chr11:56532678-56532688 chr11:56532673-56532694
42	GATA3	chr11:56532244-56533154	SK-N-SH	brain:	n/a	chr11:56532680-56532687 chr11:56532675-56532691 chr11:56532678-56532688 chr11:56532673-56532694
43	HEY1	chr11:56523144-56523528	K562	blood:	n/a	n/a
44	JUND	chr11:56517820-56518020	HepG2	liver:	n/a	n/a
45	JUND	chr11:56532372-56532925	SK-N-SH	brain:	n/a	n/a
46	JUND	chr11:56532326-56532880	SK-N-SH	brain:	n/a	n/a
47	MAFF	chr11:56530748-56530819	HepG2	liver:	n/a	n/a
48	MAFF	chr11:56519037-56519313	HepG2	liver:	n/a	n/a
49	MAFK	chr11:56530770-56530870	HepG2	liver:	n/a	n/a
50	MAFK	chr11:56518991-56519325	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
OR9G2P	TF binding region
OR9G4	TF binding region

Extended variants
information (count: 284 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs682143	chr11:56519015-56519016	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180843498	chr11:56519022-56519023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11228768	chr11:56519030-56519031	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138567872	chr11:56519051-56519052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140332173	chr11:56519065-56519066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs367825164	chr11:56519066-56519067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532162352	chr11:56519068-56519069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547499821	chr11:56519069-56519070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565662270	chr11:56519102-56519103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187587303	chr11:56519122-56519123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547886147	chr11:56519133-56519134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs61902501	chr11:56519175-56519176	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145589214	chr11:56519181-56519182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568592678	chr11:56520043-56520044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373498850	chr11:56520066-56520067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572286528	chr11:56520067-56520068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575265141	chr11:56520075-56520076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148330676	chr11:56520076-56520077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190123729	chr11:56520102-56520103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577076147	chr11:56520104-56520105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541275387	chr11:56520121-56520122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559333826	chr11:56520165-56520166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117021721	chr11:56520170-56520171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541978883	chr11:56520173-56520174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529584349	chr11:56520256-56520257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563348025	chr11:56520284-56520285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182397990	chr11:56520293-56520294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376942401	chr11:56520303-56520304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529096905	chr11:56520339-56520340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548652675	chr11:56520382-56520383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564029698	chr11:56520404-56520405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568575445	chr11:56520416-56520417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528784228	chr11:56520431-56520432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539326330	chr11:56520448-56520449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568599545	chr11:56520452-56520453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529469140	chr11:56520462-56520463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186979858	chr11:56520506-56520507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370327029	chr11:56520511-56520512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527825793	chr11:56520534-56520535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569025264	chr11:56520538-56520539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141451703	chr11:56520560-56520561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373743591	chr11:56520630-56520631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17151088	chr11:56520636-56520637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370853769	chr11:56520658-56520659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149461652	chr11:56520680-56520681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368855052	chr11:56520681-56520682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373099276	chr11:56520682-56520683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76852350	chr11:56520683-56520684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566857978	chr11:56520688-56520689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77980261	chr11:56520710-56520711	Weak transcription	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
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56519000-56519200	ZNF genes & repeats	Spleen	Spleen
2	chr11:56520000-56520400	Enhancers	Dnd41	blood
3	chr11:56520400-56524600	Weak transcription	Dnd41	blood
4	chr11:56521600-56521800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:56521800-56522800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:56521800-56523600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:56522000-56523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:56522400-56522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:56522400-56523400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:56522600-56522800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:56522600-56523000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:56522800-56523000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:56522800-56523200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:56523000-56523600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:56523600-56523800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:56523800-56525200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:56524600-56525800	Enhancers	Dnd41	blood
18	chr11:56525200-56525400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:56532400-56533000	Enhancers	A549	lung
20	chr11:56541800-56542200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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