Variant report

Variant	esv3410489
Chromosome Location	chr11:55872880-55890198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:55890080-55890230	GM12866	blood:	n/a	n/a
2	CUX1	chr11:55878375-55878386	GM12878	blood:	n/a	n/a
3	E2F4	chr11:55875913-55876332	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr11:55879288-55879577	SH-SY5Y	brain:	n/a	chr11:55879382-55879392 chr11:55879377-55879398 chr11:55879384-55879391 chr11:55879384-55879391 chr11:55879382-55879391 chr11:55879379-55879395 chr11:55879384-55879391
5	IRF1	chr11:55878415-55878470	K562	blood:	n/a	n/a
6	MAFK	chr11:55876107-55876310	HepG2	liver:	n/a	n/a
7	MAFK	chr11:55876117-55876316	HepG2	liver:	n/a	n/a
8	NFYA	chr11:55878903-55879095	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:55885754-55885847	A549	lung:	n/a	n/a
10	POLR2A	chr11:55882806-55882931	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:55877388-55877501	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:55873851-55874029	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:55874570-55874636	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr11:55879916-55879997	K562	blood:	n/a	n/a
15	SRF	chr11:55885732-55885849	GM12878	blood:	n/a	n/a
16	STAT3	chr11:55876574-55876723	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:55874387-55874549	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr11:55877240-55877399	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55889797-55889847	AG04449	skin:	fetal
2	chr11:55889658-55889708	RPTEC	kidney:	n/a
3	chr11:55889797-55889847	LNCaP	prostate:	n/a
4	chr11:55889658-55889708	HRE	kidney:	n/a
5	chr11:55872882-55872932	SK-N-SH_RA	brain:	n/a
6	chr11:55872882-55872932	Caco-2	colon:	n/a
7	chr11:55872995-55873045	HepG2	liver:	n/a
8	chr11:55889658-55889708	H1-hESC	embryonic stem cell:	embryo
9	chr11:55872882-55872932	AoSMC	blood vessel:	n/a
10	chr11:55872882-55872932	GM19239	blood:	n/a
11	chr11:55889797-55889847	SKMC	muscle:	n/a
12	chr11:55872995-55873045	IMR90	lung:	fetal
13	chr11:55889808-55889858	GM06990	blood:	n/a
14	chr11:55889797-55889847	PANC-1	pancreas:	n/a
15	chr11:55872995-55873045	NHBE	bronchial:	n/a
16	chr11:55889658-55889708	HNPCEpiC	eye:	n/a
17	chr11:55889808-55889858	PrEC	prostate:	n/a
18	chr11:55889797-55889847	AG09319	gingival:	n/a
19	chr11:55872882-55872932	Hela-S3	cervix:	n/a
20	chr11:55889808-55889858	AG09319	gingival:	n/a
21	chr11:55872995-55873045	HNPCEpiC	eye:	n/a
22	chr11:55889658-55889708	AG04449	skin:	fetal
23	chr11:55872882-55872932	HIPEpiC	eye:	n/a
24	chr11:55872995-55873045	BJ	skin:	n/a
25	chr11:55889808-55889858	NHDF-neo	bronchial:	n/a
26	chr11:55872995-55873045	HUVEC	blood vessel:	n/a
27	chr11:55872882-55872932	MCF-7	breast:	n/a
28	chr11:55872995-55873045	MCF10A-Er-Src	breast:	n/a
29	chr11:55889797-55889847	NB4	blood:	n/a
30	chr11:55889808-55889858	AG04450	lung:	fetal
31	chr11:55889808-55889858	Jurkat	blood:	n/a
32	chr11:55889808-55889858	HEEpiC	esophagus:	n/a
33	chr11:55889797-55889847	HRE	kidney:	n/a
34	chr11:55889797-55889847	HEEpiC	esophagus:	n/a
35	chr11:55872995-55873045	CMK	blood:	n/a
36	chr11:55889658-55889708	Hela-S3	cervix:	n/a
37	chr11:55889658-55889708	NT2-D1	testis:	n/a
38	chr11:55889658-55889708	ovcar-3	ovarian:	n/a
39	chr11:55889658-55889708	BE2_C	brain:	n/a
40	chr11:55872995-55873045	HRE	kidney:	n/a
41	chr11:55889797-55889847	NHBE	bronchial:	n/a
42	chr11:55889658-55889708	GM12878	blood:	n/a
43	chr11:55889658-55889708	AG09319	gingival:	n/a
44	chr11:55889808-55889858	GM12878	blood:	n/a
45	chr11:55889808-55889858	HMEC	breast:	n/a
46	chr11:55872882-55872932	ECC-1	luminal epithelium:	n/a
47	chr11:55889808-55889858	BJ	skin:	n/a
48	chr11:55872882-55872932	AG09319	gingival:	n/a
49	chr11:55889658-55889708	HEK293	kidney:	embryo
50	chr11:55889808-55889858	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
OR5BN2P	TF binding region
OR8H3	TF binding region
OR5BN2P	CpG island
OR8H3	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59924274	chr11:55885769-55885770	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557617117	chr11:55885770-55885771	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs537363767	chr11:55889659-55889660	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs7109807	chr11:55889687-55889688	Inactive region	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370742152	chr11:55889803-55889804	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs113552472	chr11:55889809-55889810	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs7112887	chr11:55889815-55889816	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576157793	chr11:55889821-55889822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs371411979	chr11:55889824-55889825	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs147240665	chr11:55889842-55889843	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs374085286	chr11:55889845-55889846	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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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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