Variant report

Variant	esv1810054
Chromosome Location	chr2:110684637-110744543
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	chr2:110738365-110738645	GM12878	blood:	n/a	n/a
2	BATF	chr2:110733954-110734198	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:110738261-110738582	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:110723775-110724206	HepG2	liver:	n/a	n/a
5	CBX3	chr2:110738340-110738572	K562	blood:	n/a	n/a
6	CTCF	chr2:110727513-110727643	Gliobla	brain:	n/a	n/a
7	CTCF	chr2:110727497-110727769	GM13977	blood:	n/a	n/a
8	CTCF	chr2:110733956-110734256	A549	lung:	n/a	chr2:110734108-110734126
9	CTCF	chr2:110738309-110738770	A549	lung:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
10	CTCF	chr2:110727477-110727760	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr2:110738306-110738695	K562	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
12	CTCF	chr2:110733971-110734225	MCF-7	breast:	n/a	chr2:110734108-110734126
13	CTCF	chr2:110733977-110734217	K562	blood:	n/a	chr2:110734108-110734126
14	CTCF	chr2:110726347-110726429	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr2:110738395-110738722	Pancreas_OC	pancreas:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
16	CTCF	chr2:110734043-110734203	GM10248	blood:	n/a	chr2:110734108-110734126
17	CTCF	chr2:110727251-110727317	GM13977	blood:	n/a	n/a
18	CTCF	chr2:110727440-110727860	A549	lung:	n/a	n/a
19	CTCF	chr2:110738355-110738672	K562	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
20	CTCF	chr2:110734043-110734228	GM13977	blood:	n/a	chr2:110734108-110734126
21	CTCF	chr2:110724824-110724842	GM13976	blood:	n/a	n/a
22	CTCF	chr2:110739151-110739169	GM10248	blood:	n/a	n/a
23	CTCF	chr2:110693131-110693186	GM20000	blood:	n/a	n/a
24	CTCF	chr2:110724793-110724815	GM13976	blood:	n/a	n/a
25	CTCF	chr2:110734068-110734205	Kidney_OC	kidney:	n/a	chr2:110734108-110734126
26	CTCF	chr2:110701281-110701363	GM13976	blood:	n/a	n/a
27	CTCF	chr2:110717707-110717779	GM10248	blood:	n/a	n/a
28	CTCF	chr2:110744341-110744551	Hela-S3	cervix:	n/a	chr2:110744453-110744466
29	CTCF	chr2:110721989-110722041	GM10248	blood:	n/a	n/a
30	CTCF	chr2:110733984-110734223	HUVEC	blood vessel:	n/a	chr2:110734108-110734126
31	CTCF	chr2:110744310-110744724	NHEK	skin:	n/a	chr2:110744453-110744466
32	CTCF	chr2:110733962-110734263	LNCaP	prostate:	n/a	chr2:110734108-110734126
33	CTCF	chr2:110744249-110744647	A549	lung:	n/a	chr2:110744453-110744466
34	CTCF	chr2:110744400-110744477	LNCaP	prostate:	n/a	chr2:110744453-110744466
35	CTCF	chr2:110733942-110734249	Gliobla	brain:	n/a	chr2:110734108-110734126
36	CTCF	chr2:110734007-110734181	GM19239	blood:	n/a	chr2:110734108-110734126
37	CTCF	chr2:110738238-110738763	A549	lung:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
38	CTCF	chr2:110738803-110738855	ProgFib	skin:	n/a	n/a
39	CTCF	chr2:110738361-110738653	Fibrobl	skin:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
40	CTCF	chr2:110738386-110738688	GM20000	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
41	CTCF	chr2:110733957-110734238	GM12892	blood:	n/a	chr2:110734108-110734126
42	CTCF	chr2:110733898-110734326	K562	blood:	n/a	chr2:110734108-110734126
43	CTCF	chr2:110738786-110738856	GM19239	blood:	n/a	n/a
44	CTCF	chr2:110738809-110738856	GM13977	blood:	n/a	n/a
45	CTCF	chr2:110738359-110738661	A549	lung:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
46	CTCF	chr2:110738335-110738697	GM19238	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
47	CTCF	chr2:110727721-110727778	Gliobla	brain:	n/a	n/a
48	CTCF	chr2:110733992-110734201	GM12878	blood:	n/a	chr2:110734108-110734126
49	CTCF	chr2:110697011-110697106	GM20000	blood:	n/a	n/a
50	CTCF	chr2:110734248-110734251	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110705781-110705831	MCF-7	breast:	n/a
2	chr2:110706159-110706209	H1-hESC	embryonic stem cell:	embryo
3	chr2:110705781-110705831	SK-N-SH_RA	brain:	n/a
4	chr2:110706159-110706209	HIPEpiC	eye:	n/a
5	chr2:110705781-110705831	HEEpiC	esophagus:	n/a
6	chr2:110706159-110706209	HRCEpiC	kidney:	n/a
7	chr2:110706159-110706209	Jurkat	blood:	n/a
8	chr2:110706159-110706209	HMEC	breast:	n/a
9	chr2:110705781-110705831	NT2-D1	testis:	n/a
10	chr2:110706159-110706209	SKMC	muscle:	n/a
11	chr2:110705781-110705831	GM06990	blood:	n/a
12	chr2:110705781-110705831	SAEC	small airway:	n/a
13	chr2:110705781-110705831	PrEC	prostate:	n/a
14	chr2:110706159-110706209	PANC-1	pancreas:	n/a
15	chr2:110706159-110706209	K562	blood:	n/a
16	chr2:110705781-110705831	AG09319	gingival:	n/a
17	chr2:110706159-110706209	GM12891	blood:	n/a
18	chr2:110706159-110706209	NHDF-neo	bronchial:	n/a
19	chr2:110706159-110706209	HRE	kidney:	n/a
20	chr2:110706159-110706209	PFSK-1	brain:	n/a
21	chr2:110705781-110705831	Hela-S3	cervix:	n/a
22	chr2:110705781-110705831	SK-N-SH	brain:	n/a
23	chr2:110705781-110705831	HMEC	breast:	n/a
24	chr2:110705781-110705831	AG09309	skin:	n/a
25	chr2:110705781-110705831	HRE	kidney:	n/a
26	chr2:110705781-110705831	HRCEpiC	kidney:	n/a
27	chr2:110706159-110706209	LNCaP	prostate:	n/a
28	chr2:110706159-110706209	BJ	skin:	n/a
29	chr2:110706159-110706209	GM06990	blood:	n/a
30	chr2:110706159-110706209	ovcar-3	ovarian:	n/a
31	chr2:110706159-110706209	CMK	blood:	n/a
32	chr2:110706159-110706209	U87	brain:	n/a
33	chr2:110706159-110706209	T-47D	breast:	n/a
34	chr2:110706159-110706209	HNPCEpiC	eye:	n/a
35	chr2:110705781-110705831	LNCaP	prostate:	n/a
36	chr2:110706159-110706209	ECC-1	luminal epithelium:	n/a
37	chr2:110706159-110706209	HCT-116	colon:	n/a
38	chr2:110706159-110706209	GM19239	blood:	n/a
39	chr2:110706159-110706209	MCF-7	breast:	n/a
40	chr2:110705781-110705831	HL-60	blood:	n/a
41	chr2:110706159-110706209	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:110706159-110706209	Caco-2	colon:	n/a
43	chr2:110705781-110705831	NH-A	brain:	n/a
44	chr2:110706159-110706209	GM12878	blood:	n/a
45	chr2:110705781-110705831	AG10803	skin:	n/a
46	chr2:110706159-110706209	AG09309	skin:	n/a
47	chr2:110705781-110705831	Hepatocyte	liver:	n/a
48	chr2:110705781-110705831	AoSMC	blood vessel:	n/a
49	chr2:110705781-110705831	A549	lung:	n/a
50	chr2:110706159-110706209	HEEpiC	esophagus:	n/a

Variant related genes	Relation type
GPAA1P1	TF binding region
LINC01123	TF binding region
ENSG00000186148	TF binding region
GPAA1P1	CpG island
LINC01123	CpG island
ENSG00000186148	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62159067	chr2:110685770-110685771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78658664	chr2:110685934-110685935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs336803	chr2:110694251-110694252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1966906	chr2:110694378-110694379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540625662	chr2:110738259-110738260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs336701	chr2:110738305-110738306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369269722	chr2:110738327-110738328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560727210	chr2:110738391-110738392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529603276	chr2:110738494-110738495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549743418	chr2:110738737-110738738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185889550	chr2:110738774-110738775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531964331	chr2:110738777-110738778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs199500468	chr2:110738798-110738799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550367611	chr2:110738812-110738813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs367985110	chr2:110738843-110738844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538696574	chr2:110738844-110738845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539014538	chr2:110738899-110738900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546569449	chr2:110738931-110738932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2124961	chr2:110739130-110739131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563189274	chr2:110739678-110739679	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs571399457	chr2:110742211-110742212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs339196	chr2:110742626-110742627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373152667	chr2:110743667-110743668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs336709	chr2:110743690-110743691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533992791	chr2:110743774-110743775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554277122	chr2:110743814-110743815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565138343	chr2:110743840-110743841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200875767	chr2:110743841-110743842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs388398	chr2:110743852-110743853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs142252171	chr2:110743856-110743857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs62159145	chr2:110744420-110744421	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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