Variant report

Variant	nsv1042532
Chromosome Location	chr11:55233539-55279921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
2	CEBPB	chr11:55268173-55268348	K562	blood:	n/a	n/a
3	CEBPB	chr11:55237138-55237399	A549	lung:	n/a	chr11:55237275-55237286
4	CTCF	chr11:55269100-55269155	Lung_OC	lung:	n/a	n/a
5	CTCF	chr11:55271000-55271150	HEK293	kidney:	n/a	n/a
6	CTCF	chr11:55271042-55271246	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:55271083-55271175	HepG2	liver:	n/a	n/a
8	CTCF	chr11:55271000-55271150	GM12869	blood:	n/a	n/a
9	CTCF	chr11:55270968-55271188	A549	lung:	n/a	n/a
10	CTCF	chr11:55271040-55271190	GM12873	blood:	n/a	n/a
11	CTCF	chr11:55271040-55271190	GM06990	blood:	n/a	n/a
12	CTCF	chr11:55271073-55271164	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:55271080-55271230	GM12872	blood:	n/a	n/a
14	CTCF	chr11:55271043-55271202	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:55270960-55271110	GM12867	blood:	n/a	n/a
16	CTCF	chr11:55271060-55271210	A549	lung:	n/a	n/a
17	CTCF	chr11:55270980-55271130	GM12866	blood:	n/a	n/a
18	CTCF	chr11:55271040-55271190	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr11:55271060-55271210	GM12873	blood:	n/a	n/a
20	CTCF	chr11:55233786-55233856	Lung_OC	lung:	n/a	n/a
21	CTCF	chr11:55271050-55271261	Gliobla	brain:	n/a	n/a
22	CTCF	chr11:55271080-55271230	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr11:55271191-55271193	K562	blood:	n/a	n/a
24	CTCF	chr11:55271120-55271270	GM12865	blood:	n/a	n/a
25	CTCF	chr11:55270919-55271230	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:55271023-55271232	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:55271060-55271210	GM12874	blood:	n/a	n/a
28	CTCF	chr11:55271040-55271190	NB4	blood:	n/a	n/a
29	CTCF	chr11:55271058-55271188	K562	blood:	n/a	n/a
30	CTCF	chr11:55271123-55271159	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:55271060-55271210	HEK293	kidney:	n/a	n/a
32	CTCF	chr11:55271018-55271294	K562	blood:	n/a	n/a
33	CTCF	chr11:55271125-55271152	GM12878	blood:	n/a	n/a
34	CTCF	chr11:55271040-55271190	MCF-7	breast:	n/a	n/a
35	EP300	chr11:55240989-55240993	K562	blood:	n/a	n/a
36	FOS	chr11:55242790-55242813	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:55248962-55249339	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:55248941-55249330	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:55248955-55249222	MCF10A-Er-Src	breast:	n/a	n/a
40	GATA2	chr11:55268159-55268354	K562	blood:	n/a	n/a
41	IRF1	chr11:55247000-55247012	K562	blood:	n/a	n/a
42	JUN	chr11:55239094-55239294	K562	blood:	n/a	n/a
43	JUND	chr11:55248936-55249124	HepG2	liver:	n/a	chr11:55249032-55249043
44	KAP1	chr11:55263523-55263867	K562	blood:	n/a	n/a
45	MAFF	chr11:55279356-55279534	HepG2	liver:	n/a	chr11:55279422-55279440
46	MAFK	chr11:55278038-55278087	HepG2	liver:	n/a	n/a
47	MAFK	chr11:55279302-55279580	HepG2	liver:	n/a	n/a
48	MYC	chr11:55269209-55269320	GM12878	blood:	n/a	n/a
49	NR2F2	chr11:55268092-55268379	K562	blood:	n/a	n/a
50	NR2F2	chr11:55268160-55268423	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
OR4A13P	TF binding region
OR4A21P	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4C1P	TF binding region

Extended variants
information (count: 794 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184177630	chr11:55233797-55233798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566606141	chr11:55233813-55233814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61916455	chr11:55233832-55233833	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552707582	chr11:55233834-55233835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575018355	chr11:55233835-55233836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113944969	chr11:55233836-55233837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576287148	chr11:55238452-55238453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554325630	chr11:55238460-55238461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542389087	chr11:55238521-55238522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149595147	chr11:55238539-55238540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564804593	chr11:55238564-55238565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75810592	chr11:55238566-55238567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs61917986	chr11:55238567-55238568	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185124983	chr11:55238613-55238614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61917987	chr11:55238633-55238634	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61917988	chr11:55238640-55238641	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61917989	chr11:55238643-55238644	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190717368	chr11:55238693-55238694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533410495	chr11:55238699-55238700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11827799	chr11:55239118-55239119	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568622975	chr11:55239145-55239146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535638951	chr11:55239146-55239147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554671288	chr11:55239195-55239196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569603515	chr11:55239202-55239203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs193081904	chr11:55239227-55239228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551115109	chr11:55239244-55239245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115917928	chr11:55239249-55239250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185821869	chr11:55239253-55239254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200976365	chr11:55240625-55240626	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs376556137	chr11:55240686-55240687	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs369541909	chr11:55240693-55240694	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs539653839	chr11:55240705-55240706	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs557975620	chr11:55240756-55240757	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs567018068	chr11:55240762-55240763	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs547719071	chr11:55240773-55240774	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs554074084	chr11:55240777-55240778	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs187520953	chr11:55240794-55240795	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs72924351	chr11:55240803-55240804	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs74622371	chr11:55240804-55240805	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs144406055	chr11:55242810-55242811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs374131517	chr11:55243214-55243215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112605292	chr11:55243238-55243239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs61917998	chr11:55243250-55243251	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558447150	chr11:55243279-55243280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149126532	chr11:55243287-55243288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534851261	chr11:55243295-55243296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113427083	chr11:55243303-55243304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574920075	chr11:55243305-55243306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11229880	chr11:55243334-55243335	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563727646	chr11:55243367-55243368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55260600-55262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:55263400-55263600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:55268600-55270400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea
6	chr11:55277400-55277800	ZNF genes & repeats	Pancreas	Pancrea
7	chr11:55277400-55278000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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