Variant report

Variant	esv3521155
Chromosome Location	chr2:110687113-110713211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:110698541-110698575	GM13976	blood:	n/a	n/a
2	CTCF	chr2:110690354-110690387	GM20000	blood:	n/a	n/a
3	CTCF	chr2:110697011-110697106	GM20000	blood:	n/a	n/a
4	CTCF	chr2:110693131-110693186	GM20000	blood:	n/a	n/a
5	CTCF	chr2:110700749-110700812	GM10248	blood:	n/a	n/a
6	CTCF	chr2:110701281-110701363	GM13976	blood:	n/a	n/a
7	CTCF	chr2:110695989-110696075	GM10248	blood:	n/a	n/a
8	FOXA1	chr2:110698703-110699182	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:110694099-110694582	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:110710736-110711323	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:110710739-110711226	A549	lung:	n/a	n/a
12	POLR2A	chr2:110704877-110706042	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:110705124-110705476	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:110686718-110687128	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr2:110705080-110705454	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:110705542-110705823	H1-hESC	embryonic stem cell:	n/a	n/a
17	RXRA	chr2:110693318-110693760	HepG2	liver:	n/a	n/a
18	SP1	chr2:110710876-110711191	HepG2	liver:	n/a	n/a
19	TAF1	chr2:110705025-110705902	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr2:110705039-110705581	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr2:110705177-110705283	GM12878	blood:	n/a	n/a
22	USF1	chr2:110696593-110696724	HepG2	liver:	n/a	chr2:110696677-110696688

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110706159-110706209	LNCaP	prostate:	n/a
2	chr2:110706159-110706209	Caco-2	colon:	n/a
3	chr2:110705781-110705831	HNPCEpiC	eye:	n/a
4	chr2:110706159-110706209	HRPEpiC	eye:	n/a
5	chr2:110705781-110705831	HEK293	kidney:	embryo
6	chr2:110705781-110705831	NHBE	bronchial:	n/a
7	chr2:110706159-110706209	NT2-D1	testis:	n/a
8	chr2:110706159-110706209	GM06990	blood:	n/a
9	chr2:110706159-110706209	GM12891	blood:	n/a
10	chr2:110705781-110705831	ovcar-3	ovarian:	n/a
11	chr2:110706159-110706209	SK-N-SH	brain:	n/a
12	chr2:110705781-110705831	AG09319	gingival:	n/a
13	chr2:110705781-110705831	U87	brain:	n/a
14	chr2:110705781-110705831	HRPEpiC	eye:	n/a
15	chr2:110706159-110706209	IMR90	lung:	fetal
16	chr2:110706159-110706209	RPTEC	kidney:	n/a
17	chr2:110706159-110706209	GM19239	blood:	n/a
18	chr2:110706159-110706209	GM12878	blood:	n/a
19	chr2:110705781-110705831	SK-N-SH_RA	brain:	n/a
20	chr2:110706159-110706209	SK-N-MC	brain:	n/a
21	chr2:110705781-110705831	HEEpiC	esophagus:	n/a
22	chr2:110706159-110706209	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:110705781-110705831	NH-A	brain:	n/a
24	chr2:110706159-110706209	NH-A	brain:	n/a
25	chr2:110706159-110706209	A549	lung:	n/a
26	chr2:110706159-110706209	AG04450	lung:	fetal
27	chr2:110706159-110706209	ProgFib	skin:	n/a
28	chr2:110705781-110705831	AG10803	skin:	n/a
29	chr2:110705781-110705831	AoSMC	blood vessel:	n/a
30	chr2:110706159-110706209	PANC-1	pancreas:	n/a
31	chr2:110706159-110706209	HMEC	breast:	n/a
32	chr2:110706159-110706209	HCM	heart:	n/a
33	chr2:110706159-110706209	SKMC	muscle:	n/a
34	chr2:110706159-110706209	HNPCEpiC	eye:	n/a
35	chr2:110706159-110706209	PrEC	prostate:	n/a
36	chr2:110706159-110706209	HIPEpiC	eye:	n/a
37	chr2:110705781-110705831	HCPEpiC	choroid plexus:	n/a
38	chr2:110706159-110706209	HRCEpiC	kidney:	n/a
39	chr2:110706159-110706209	T-47D	breast:	n/a
40	chr2:110705781-110705831	HL-60	blood:	n/a
41	chr2:110706159-110706209	NHDF-neo	bronchial:	n/a
42	chr2:110705781-110705831	RPTEC	kidney:	n/a
43	chr2:110705781-110705831	ProgFib	skin:	n/a
44	chr2:110705781-110705831	HRCEpiC	kidney:	n/a
45	chr2:110706159-110706209	BJ	skin:	n/a
46	chr2:110706159-110706209	HCF	heart:	n/a
47	chr2:110705781-110705831	GM12878	blood:	n/a
48	chr2:110705781-110705831	BJ	skin:	n/a
49	chr2:110706159-110706209	SAEC	small airway:	n/a
50	chr2:110706159-110706209	K562	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000186148	TF binding region
ENSG00000186148	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs336803	chr2:110694251-110694252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1966906	chr2:110694378-110694379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	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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