Variant report

Variant	esv2761676
Chromosome Location	chr11:55872090-55888493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

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

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55872478-55872528	GM12892	blood:	n/a
2	chr11:55872995-55873045	SK-N-SH	brain:	n/a
3	chr11:55872882-55872932	LNCaP	prostate:	n/a
4	chr11:55872467-55872517	AG10803	skin:	n/a
5	chr11:55872467-55872517	PANC-1	pancreas:	n/a
6	chr11:55872882-55872932	NH-A	brain:	n/a
7	chr11:55872478-55872528	PrEC	prostate:	n/a
8	chr11:55872882-55872932	SKMC	muscle:	n/a
9	chr11:55872467-55872517	CMK	blood:	n/a
10	chr11:55872467-55872517	SK-N-MC	brain:	n/a
11	chr11:55872467-55872517	SK-N-SH_RA	brain:	n/a
12	chr11:55872478-55872528	HEK293	kidney:	embryo
13	chr11:55872467-55872517	Jurkat	blood:	n/a
14	chr11:55872882-55872932	PFSK-1	brain:	n/a
15	chr11:55872882-55872932	HepG2	liver:	n/a
16	chr11:55872995-55873045	HRCEpiC	kidney:	n/a
17	chr11:55872478-55872528	Hela-S3	cervix:	n/a
18	chr11:55872882-55872932	CMK	blood:	n/a
19	chr11:55872467-55872517	HCT-116	colon:	n/a
20	chr11:55872882-55872932	GM12891	blood:	n/a
21	chr11:55872478-55872528	U87	brain:	n/a
22	chr11:55872995-55873045	SAEC	small airway:	n/a
23	chr11:55872467-55872517	Hepatocyte	liver:	n/a
24	chr11:55872995-55873045	T-47D	breast:	n/a
25	chr11:55872467-55872517	HRCEpiC	kidney:	n/a
26	chr11:55872882-55872932	RPTEC	kidney:	n/a
27	chr11:55872882-55872932	PrEC	prostate:	n/a
28	chr11:55872882-55872932	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:55872478-55872528	RPTEC	kidney:	n/a
30	chr11:55872478-55872528	ProgFib	skin:	n/a
31	chr11:55872882-55872932	SK-N-MC	brain:	n/a
32	chr11:55872995-55873045	AG04449	skin:	fetal
33	chr11:55872478-55872528	GM12878	blood:	n/a
34	chr11:55872467-55872517	HCM	heart:	n/a
35	chr11:55872882-55872932	HEK293	kidney:	embryo
36	chr11:55872467-55872517	HAEpiC	amniotic membrane:	n/a
37	chr11:55872882-55872932	Caco-2	colon:	n/a
38	chr11:55872467-55872517	Caco-2	colon:	n/a
39	chr11:55872995-55873045	GM12891	blood:	n/a
40	chr11:55872467-55872517	NHBE	bronchial:	n/a
41	chr11:55872478-55872528	NHBE	bronchial:	n/a
42	chr11:55872995-55873045	A549	lung:	n/a
43	chr11:55872467-55872517	AoSMC	blood vessel:	n/a
44	chr11:55872478-55872528	HepG2	liver:	n/a
45	chr11:55872478-55872528	Caco-2	colon:	n/a
46	chr11:55872467-55872517	BE2_C	brain:	n/a
47	chr11:55872882-55872932	MCF10A-Er-Src	breast:	n/a
48	chr11:55872467-55872517	HCPEpiC	choroid plexus:	n/a
49	chr11:55872478-55872528	SAEC	small airway:	n/a
50	chr11:55872995-55873045	HRE	kidney:	n/a

No data

Variant related genes	Relation type
OR5BN2P	TF binding region
OR8H3	TF binding region
OR8H2	TF binding region
OR5BN2P	CpG island
OR8H3	CpG island
OR8H2	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550210342	chr11:55872467-55872468	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs148653363	chr11:55872469-55872470	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs532405288	chr11:55872478-55872479	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs370837923	chr11:55872485-55872486	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs374348905	chr11:55872488-55872489	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs368197080	chr11:55872510-55872511	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs59924274	chr11:55885769-55885770	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557617117	chr11:55885770-55885771	Inactive region	TF binding region	2 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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