Variant report

Variant	esv1802487
Chromosome Location	chr2:110617560-110733551
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	BATF	chr2:110653035-110653493	GM12878	blood:	n/a	n/a
2	BATF	chr2:110628689-110629008	GM12878	blood:	n/a	n/a
3	BATF	chr2:110653717-110654248	GM12878	blood:	n/a	chr2:110654054-110654064 chr2:110654053-110654064
4	BATF	chr2:110628682-110629136	GM12878	blood:	n/a	n/a
5	BATF	chr2:110645383-110645632	GM12878	blood:	n/a	n/a
6	BATF	chr2:110645180-110645680	GM12878	blood:	n/a	n/a
7	BATF	chr2:110655074-110655448	GM12878	blood:	n/a	n/a
8	BATF	chr2:110663352-110663813	GM12878	blood:	n/a	chr2:110663553-110663564 chr2:110663608-110663619
9	BATF	chr2:110662784-110663052	GM12878	blood:	n/a	chr2:110662929-110662940
10	BATF	chr2:110653650-110654385	GM12878	blood:	n/a	chr2:110654054-110654064 chr2:110654053-110654064
11	BATF	chr2:110663321-110663821	GM12878	blood:	n/a	chr2:110663553-110663564 chr2:110663608-110663619
12	BCL11A	chr2:110622746-110622931	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:110628740-110628913	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:110663316-110663738	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:110653155-110653347	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:110653775-110654123	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:110653735-110654258	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:110667539-110667813	GM12878	blood:	n/a	n/a
19	BCL11A	chr2:110653076-110653477	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:110659894-110660095	GM12878	blood:	n/a	chr2:110659948-110659957
21	BCL11A	chr2:110663268-110663851	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:110618320-110618612	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:110723775-110724206	HepG2	liver:	n/a	n/a
24	BHLHE40	chr2:110628662-110629055	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:110629094-110629314	HepG2	liver:	n/a	n/a
26	CTCF	chr2:110647546-110647757	Gliobla	brain:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
27	CTCF	chr2:110647530-110647770	Medullo	brain:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
28	CTCF	chr2:110668519-110668561	GM10248	blood:	n/a	n/a
29	CTCF	chr2:110634390-110634426	GM13976	blood:	n/a	n/a
30	CTCF	chr2:110655766-110655841	GM13976	blood:	n/a	n/a
31	CTCF	chr2:110629200-110629225	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:110726347-110726429	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr2:110628753-110629054	A549	lung:	n/a	n/a
34	CTCF	chr2:110647559-110647733	Lung_OC	lung:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
35	CTCF	chr2:110647549-110647734	GM10248	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
36	CTCF	chr2:110627003-110627099	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr2:110628742-110629012	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr2:110727512-110727731	GM13976	blood:	n/a	n/a
39	CTCF	chr2:110628764-110628984	GM19238	blood:	n/a	n/a
40	CTCF	chr2:110647554-110647748	GM13977	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
41	CTCF	chr2:110647525-110647720	K562	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
42	CTCF	chr2:110628759-110628992	GM10266	blood:	n/a	n/a
43	CTCF	chr2:110628774-110628970	GM19240	blood:	n/a	n/a
44	CTCF	chr2:110647629-110647734	NHEK	skin:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
45	CTCF	chr2:110727521-110727635	A549	lung:	n/a	n/a
46	CTCF	chr2:110727534-110727613	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:110647537-110647763	Kidney_OC	kidney:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
48	CTCF	chr2:110727458-110727824	K562	blood:	n/a	n/a
49	CTCF	chr2:110727222-110727375	GM10248	blood:	n/a	n/a
50	CTCF	chr2:110647552-110647746	Pancreas_OC	pancreas:	n/a	chr2:110647634-110647655 chr2:110647637-110647645

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110706159-110706209	SK-N-SH	brain:	n/a
2	chr2:110705781-110705831	AG10803	skin:	n/a
3	chr2:110706159-110706209	PFSK-1	brain:	n/a
4	chr2:110706159-110706209	NB4	blood:	n/a
5	chr2:110705781-110705831	H1-hESC	embryonic stem cell:	embryo
6	chr2:110706159-110706209	HIPEpiC	eye:	n/a
7	chr2:110705781-110705831	K562	blood:	n/a
8	chr2:110706159-110706209	AG04450	lung:	fetal
9	chr2:110706159-110706209	H1-hESC	embryonic stem cell:	embryo
10	chr2:110705781-110705831	GM12891	blood:	n/a
11	chr2:110705781-110705831	AG04450	lung:	fetal
12	chr2:110705781-110705831	HEK293	kidney:	embryo
13	chr2:110706159-110706209	K562	blood:	n/a
14	chr2:110706159-110706209	HAEpiC	amniotic membrane:	n/a
15	chr2:110705781-110705831	A549	lung:	n/a
16	chr2:110706159-110706209	HEK293	kidney:	embryo
17	chr2:110705781-110705831	NB4	blood:	n/a
18	chr2:110706159-110706209	HRCEpiC	kidney:	n/a
19	chr2:110705781-110705831	IMR90	lung:	fetal
20	chr2:110706159-110706209	Caco-2	colon:	n/a
21	chr2:110706159-110706209	SKMC	muscle:	n/a
22	chr2:110706159-110706209	HNPCEpiC	eye:	n/a
23	chr2:110706159-110706209	ECC-1	luminal epithelium:	n/a
24	chr2:110705781-110705831	HCT-116	colon:	n/a
25	chr2:110705781-110705831	HEEpiC	esophagus:	n/a
26	chr2:110706159-110706209	Hela-S3	cervix:	n/a
27	chr2:110706159-110706209	NT2-D1	testis:	n/a
28	chr2:110706159-110706209	HCT-116	colon:	n/a
29	chr2:110705781-110705831	HIPEpiC	eye:	n/a
30	chr2:110705781-110705831	Hela-S3	cervix:	n/a
31	chr2:110705781-110705831	MCF10A-Er-Src	breast:	n/a
32	chr2:110705781-110705831	RPTEC	kidney:	n/a
33	chr2:110705781-110705831	AoSMC	blood vessel:	n/a
34	chr2:110706159-110706209	BE2_C	brain:	n/a
35	chr2:110705781-110705831	SKMC	muscle:	n/a
36	chr2:110705781-110705831	HAEpiC	amniotic membrane:	n/a
37	chr2:110706159-110706209	NHBE	bronchial:	n/a
38	chr2:110706159-110706209	Hepatocyte	liver:	n/a
39	chr2:110705781-110705831	AG04449	skin:	fetal
40	chr2:110705781-110705831	GM12878	blood:	n/a
41	chr2:110705781-110705831	Jurkat	blood:	n/a
42	chr2:110706159-110706209	BJ	skin:	n/a
43	chr2:110705781-110705831	ovcar-3	ovarian:	n/a
44	chr2:110705781-110705831	HNPCEpiC	eye:	n/a
45	chr2:110705781-110705831	PFSK-1	brain:	n/a
46	chr2:110706159-110706209	HL-60	blood:	n/a
47	chr2:110705781-110705831	GM12892	blood:	n/a
48	chr2:110706159-110706209	AG10803	skin:	n/a
49	chr2:110705781-110705831	NH-A	brain:	n/a
50	chr2:110705781-110705831	NHBE	bronchial:	n/a

Variant related genes	Relation type
ENSG00000186148	TF binding region
LIMS3	TF binding region
ENSG00000186148	CpG island
LIMS3	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62161350	chr2:110651914-110651915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62161352	chr2:110652608-110652609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62161353	chr2:110652617-110652618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62161354	chr2:110653592-110653593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62161355	chr2:110653661-110653662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62161356	chr2:110653663-110653664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62161357	chr2:110653709-110653710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113406090	chr2:110654079-110654080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3806526	chr2:110655896-110655897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs62162963	chr2:110656623-110656624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62159067	chr2:110685770-110685771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs78658664	chr2:110685934-110685935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs336803	chr2:110694251-110694252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1966906	chr2:110694378-110694379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	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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