Variant report

Variant	esv1811619
Chromosome Location	chr2:110687496-110732567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:110723775-110724206	HepG2	liver:	n/a	n/a
2	CTCF	chr2:110727251-110727317	GM13977	blood:	n/a	n/a
3	CTCF	chr2:110724793-110724815	GM13976	blood:	n/a	n/a
4	CTCF	chr2:110727434-110727819	A549	lung:	n/a	n/a
5	CTCF	chr2:110721989-110722041	GM10248	blood:	n/a	n/a
6	CTCF	chr2:110727388-110727785	K562	blood:	n/a	n/a
7	CTCF	chr2:110690354-110690387	GM20000	blood:	n/a	n/a
8	CTCF	chr2:110727483-110727763	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr2:110726347-110726429	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr2:110721478-110721857	A549	lung:	n/a	chr2:110721810-110721819 chr2:110721691-110721712
11	CTCF	chr2:110721430-110721869	A549	lung:	n/a	chr2:110721810-110721819 chr2:110721691-110721712
12	CTCF	chr2:110701281-110701363	GM13976	blood:	n/a	n/a
13	CTCF	chr2:110727499-110727754	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:110727440-110727860	A549	lung:	n/a	n/a
15	CTCF	chr2:110724008-110724040	GM10248	blood:	n/a	n/a
16	CTCF	chr2:110697011-110697106	GM20000	blood:	n/a	n/a
17	CTCF	chr2:110727497-110727830	A549	lung:	n/a	n/a
18	CTCF	chr2:110727497-110727769	GM13977	blood:	n/a	n/a
19	CTCF	chr2:110727477-110727760	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr2:110727261-110727345	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr2:110717707-110717779	GM10248	blood:	n/a	n/a
22	CTCF	chr2:110727381-110727951	A549	lung:	n/a	n/a
23	CTCF	chr2:110724824-110724842	GM13976	blood:	n/a	n/a
24	CTCF	chr2:110727517-110727621	K562	blood:	n/a	n/a
25	CTCF	chr2:110727222-110727375	GM10248	blood:	n/a	n/a
26	CTCF	chr2:110727512-110727731	GM13976	blood:	n/a	n/a
27	CTCF	chr2:110727493-110727783	Lung_OC	lung:	n/a	n/a
28	CTCF	chr2:110727496-110727754	GM10266	blood:	n/a	n/a
29	CTCF	chr2:110728897-110728916	GM13976	blood:	n/a	n/a
30	CTCF	chr2:110727521-110727635	A549	lung:	n/a	n/a
31	CTCF	chr2:110727513-110727643	Gliobla	brain:	n/a	n/a
32	CTCF	chr2:110727276-110727361	GM13976	blood:	n/a	n/a
33	CTCF	chr2:110727483-110727775	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr2:110727706-110727804	A549	lung:	n/a	n/a
35	CTCF	chr2:110698541-110698575	GM13976	blood:	n/a	n/a
36	CTCF	chr2:110721641-110721739	GM10248	blood:	n/a	chr2:110721691-110721712
37	CTCF	chr2:110727721-110727778	Gliobla	brain:	n/a	n/a
38	CTCF	chr2:110727534-110727613	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:110700749-110700812	GM10248	blood:	n/a	n/a
40	CTCF	chr2:110727485-110727780	Medullo	brain:	n/a	n/a
41	CTCF	chr2:110727517-110727729	LNCaP	prostate:	n/a	n/a
42	CTCF	chr2:110695989-110696075	GM10248	blood:	n/a	n/a
43	CTCF	chr2:110727449-110727752	GM10248	blood:	n/a	n/a
44	CTCF	chr2:110693131-110693186	GM20000	blood:	n/a	n/a
45	CTCF	chr2:110724472-110724517	GM13976	blood:	n/a	n/a
46	CTCF	chr2:110727458-110727824	K562	blood:	n/a	n/a
47	CTCF	chr2:110725682-110725724	GM13977	blood:	n/a	n/a
48	CTCF	chr2:110727329-110727943	K562	blood:	n/a	n/a
49	CTCF	chr2:110727551-110727575	GM19240	blood:	n/a	n/a
50	CTCF	chr2:110727520-110727739	GM20000	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110706159-110706209	AG04450	lung:	fetal
2	chr2:110705781-110705831	SK-N-MC	brain:	n/a
3	chr2:110706159-110706209	MCF-7	breast:	n/a
4	chr2:110705781-110705831	SAEC	small airway:	n/a
5	chr2:110706159-110706209	ProgFib	skin:	n/a
6	chr2:110705781-110705831	AG09309	skin:	n/a
7	chr2:110705781-110705831	SKMC	muscle:	n/a
8	chr2:110706159-110706209	HNPCEpiC	eye:	n/a
9	chr2:110705781-110705831	GM12891	blood:	n/a
10	chr2:110705781-110705831	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:110705781-110705831	GM12892	blood:	n/a
12	chr2:110706159-110706209	HMEC	breast:	n/a
13	chr2:110705781-110705831	ECC-1	luminal epithelium:	n/a
14	chr2:110706159-110706209	HEEpiC	esophagus:	n/a
15	chr2:110705781-110705831	HL-60	blood:	n/a
16	chr2:110705781-110705831	Caco-2	colon:	n/a
17	chr2:110706159-110706209	H1-hESC	embryonic stem cell:	embryo
18	chr2:110706159-110706209	GM06990	blood:	n/a
19	chr2:110705781-110705831	A549	lung:	n/a
20	chr2:110705781-110705831	HRPEpiC	eye:	n/a
21	chr2:110706159-110706209	HCF	heart:	n/a
22	chr2:110706159-110706209	RPTEC	kidney:	n/a
23	chr2:110705781-110705831	MCF10A-Er-Src	breast:	n/a
24	chr2:110705781-110705831	SK-N-SH	brain:	n/a
25	chr2:110706159-110706209	T-47D	breast:	n/a
26	chr2:110705781-110705831	H1-hESC	embryonic stem cell:	embryo
27	chr2:110706159-110706209	NB4	blood:	n/a
28	chr2:110705781-110705831	HepG2	liver:	n/a
29	chr2:110706159-110706209	SKMC	muscle:	n/a
30	chr2:110705781-110705831	Jurkat	blood:	n/a
31	chr2:110706159-110706209	GM12891	blood:	n/a
32	chr2:110706159-110706209	HCM	heart:	n/a
33	chr2:110705781-110705831	HMEC	breast:	n/a
34	chr2:110705781-110705831	U87	brain:	n/a
35	chr2:110705781-110705831	PANC-1	pancreas:	n/a
36	chr2:110706159-110706209	HRPEpiC	eye:	n/a
37	chr2:110706159-110706209	HRCEpiC	kidney:	n/a
38	chr2:110705781-110705831	Hela-S3	cervix:	n/a
39	chr2:110706159-110706209	AG10803	skin:	n/a
40	chr2:110706159-110706209	SK-N-SH	brain:	n/a
41	chr2:110706159-110706209	HL-60	blood:	n/a
42	chr2:110705781-110705831	NT2-D1	testis:	n/a
43	chr2:110706159-110706209	HCPEpiC	choroid plexus:	n/a
44	chr2:110706159-110706209	HAEpiC	amniotic membrane:	n/a
45	chr2:110705781-110705831	NHBE	bronchial:	n/a
46	chr2:110705781-110705831	ProgFib	skin:	n/a
47	chr2:110705781-110705831	HEK293	kidney:	embryo
48	chr2:110705781-110705831	HNPCEpiC	eye:	n/a
49	chr2:110705781-110705831	HCM	heart:	n/a
50	chr2:110705781-110705831	NHDF-neo	bronchial:	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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