Variant report

Variant	nsv519283
Chromosome Location	chr11:55962241-55976332
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	CEBPB	chr11:55964901-55965149	Hela-S3	cervix:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
2	CEBPB	chr11:55964882-55965215	HepG2	liver:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
3	CEBPB	chr11:55964893-55965195	H1-hESC	embryonic stem cell:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
4	CEBPB	chr11:55964876-55965231	IMR90	lung:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
5	CEBPB	chr11:55964899-55965188	A549	lung:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
6	E2F4	chr11:55975699-55975861	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFF	chr11:55975268-55975666	HepG2	liver:	n/a	chr11:55975459-55975477
8	MAFF	chr11:55964237-55964548	HepG2	liver:	n/a	chr11:55964380-55964398
9	MAFF	chr11:55975267-55975702	K562	blood:	n/a	chr11:55975459-55975477
10	MAFK	chr11:55975276-55975656	HepG2	liver:	n/a	chr11:55975460-55975475
11	MAFK	chr11:55975280-55975655	K562	blood:	n/a	chr11:55975460-55975475
12	MAFK	chr11:55975276-55975653	Hela-S3	cervix:	n/a	chr11:55975460-55975475
13	MAFK	chr11:55975269-55975690	H1-hESC	embryonic stem cell:	n/a	chr11:55975460-55975475
14	MAFK	chr11:55975139-55975669	IMR90	lung:	n/a	chr11:55975460-55975475
15	MAFK	chr11:55964222-55964542	HepG2	liver:	n/a	chr11:55964480-55964494 chr11:55964381-55964396
16	MAFK	chr11:55964249-55964524	IMR90	lung:	n/a	chr11:55964480-55964494 chr11:55964381-55964396
17	MAFK	chr11:55975102-55975783	GM12878	blood:	n/a	chr11:55975460-55975475
18	MAFK	chr11:55975277-55975655	HepG2	liver:	n/a	chr11:55975460-55975475
19	MAFK	chr11:55964227-55964457	HepG2	liver:	n/a	chr11:55964381-55964396
20	MYC	chr11:55965169-55965234	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:55973103-55973306	A549	lung:	n/a	n/a
22	POLR2A	chr11:55974218-55974502	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:55971795-55971991	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:55970889-55971143	MCF10A-Er-Src	breast:	n/a	n/a
25	RFX5	chr11:55966969-55966985	K562	blood:	n/a	n/a
26	STAT1	chr11:55972835-55972879	GM12878	blood:	n/a	n/a
27	STAT3	chr11:55974089-55974289	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF7L2	chr11:55973054-55973295	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55957956..55959587-chr11:55962616..55964605,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5T2-1	chr11:55972601-55973101	NONHSAT021383

Variant related genes	Relation type
ENSG00000213604	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572748942	chr11:55972669-55972670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs372568187	chr11:55972682-55972683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs139958026	chr11:55972693-55972694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185025057	chr11:55972700-55972701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533520849	chr11:55972734-55972735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs142194038	chr11:55972735-55972736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs200440044	chr11:55972736-55972737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs376379148	chr11:55972737-55972738	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs544780858	chr11:55972740-55972741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs74784907	chr11:55972745-55972746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541867037	chr11:55972755-55972756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs10736655	chr11:55972758-55972759	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533576605	chr11:55972759-55972760	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545166062	chr11:55972778-55972779	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs11227513	chr11:55972861-55972862	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527667204	chr11:55972894-55972895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs187571364	chr11:55972956-55972957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs561623653	chr11:55972958-55972959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs192812343	chr11:55972969-55972970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563988414	chr11:55972987-55972988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568715085	chr11:55972988-55972989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539668335	chr11:55973022-55973023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551180219	chr11:55973041-55973042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560573994	chr11:55973062-55973063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs575395297	chr11:55973072-55973073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs115894270	chr11:55973102-55973103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11827361	chr11:55973131-55973132	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544397574	chr11:55973141-55973142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374278238	chr11:55973174-55973175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs34741459	chr11:55973202-55973203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375639605	chr11:55973234-55973235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538540695	chr11:55973237-55973238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199697965	chr11:55973254-55973255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs140005404	chr11:55973263-55973264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs578101975	chr11:55973271-55973272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs1481926	chr11:55973281-55973282	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75018154	chr11:55973282-55973283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572526524	chr11:55973288-55973289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554489539	chr11:55974112-55974113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539330677	chr11:55974122-55974123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368550292	chr11:55974138-55974139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371718825	chr11:55974167-55974168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554027796	chr11:55974200-55974201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190365859	chr11:55974218-55974219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11227518	chr11:55974273-55974274	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11227519	chr11:55974302-55974303	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572412135	chr11:55974346-55974347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541019492	chr11:55974366-55974367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7952685	chr11:55974380-55974381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs143034567	chr11:55974412-55974413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
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
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:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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