Variant report

Variant	esv3363738
Chromosome Location	chr2:114174782-114179480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:114179478-114179679	GM12878	blood:	n/a	n/a
2	BATF	chr2:114175312-114175602	GM12878	blood:	n/a	chr2:114175554-114175563
3	BCL11A	chr2:114174457-114174846	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:114174447-114174785	GM12878	blood:	n/a	n/a
5	FOSL2	chr2:114177970-114178575	HepG2	liver:	n/a	n/a
6	FOSL2	chr2:114179001-114179452	HepG2	liver:	n/a	n/a
7	GATA2	chr2:114176763-114177019	K562	blood:	n/a	n/a
8	HEY1	chr2:114178156-114178551	HepG2	liver:	n/a	n/a
9	HEY1	chr2:114177937-114178316	K562	blood:	n/a	n/a
10	IRF4	chr2:114177938-114178212	GM12878	blood:	n/a	n/a
11	JUND	chr2:114177975-114178264	HepG2	liver:	n/a	n/a
12	JUND	chr2:114177928-114178052	HepG2	liver:	n/a	n/a
13	PAX5	chr2:114177949-114178272	GM12878	blood:	n/a	n/a
14	PAX5	chr2:114175331-114175578	GM12878	blood:	n/a	n/a
15	PAX5	chr2:114174477-114174896	GM12878	blood:	n/a	n/a
16	PAX5	chr2:114175047-114175260	GM12878	blood:	n/a	n/a
17	PBX3	chr2:114179182-114179292	GM12878	blood:	n/a	n/a
18	POU2F2	chr2:114179069-114179410	GM12878	blood:	n/a	n/a
19	POU2F2	chr2:114175699-114176138	GM12878	blood:	n/a	n/a
20	RXRA	chr2:114179028-114179376	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr2:114178002-114178178	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr2:114179199-114179307	HepG2	liver:	n/a	n/a
23	SP1	chr2:114175327-114175633	GM12878	blood:	n/a	n/a
24	SP1	chr2:114175605-114175857	GM12878	blood:	n/a	n/a
25	SPI1	chr2:114174496-114174794	GM12878	blood:	n/a	n/a
26	TCF3	chr2:114175046-114175284	GM12878	blood:	n/a	n/a
27	ZBTB33	chr2:114177972-114178294	K562	blood:	n/a	n/a
28	ZBTB33	chr2:114176713-114176982	GM12878	blood:	n/a	n/a
29	ZBTB33	chr2:114176742-114177011	K562	blood:	n/a	n/a
30	ZBTB33	chr2:114177971-114178307	GM12878	blood:	n/a	n/a
31	ZBTB33	chr2:114175310-114175668	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000234997	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372672851	chr2:114174826-114174827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554772260	chr2:114174850-114174851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6737864	chr2:114174933-114174934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537299087	chr2:114174942-114174943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538231848	chr2:114174950-114174951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557330671	chr2:114174975-114174976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62159991	chr2:114174977-114174978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576486253	chr2:114174978-114174979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545421552	chr2:114174979-114174980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532418392	chr2:114174995-114174996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2441386	chr2:114175003-114175004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565153620	chr2:114175018-114175019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572475953	chr2:114175071-114175072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541170938	chr2:114175073-114175074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200471924	chr2:114175109-114175110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112495469	chr2:114175134-114175135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561106504	chr2:114175172-114175173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112713931	chr2:114175181-114175182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530271346	chr2:114175232-114175233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550057920	chr2:114175233-114175234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2441387	chr2:114175251-114175252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111769313	chr2:114175252-114175253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563666658	chr2:114175284-114175285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531996345	chr2:114175301-114175302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181641215	chr2:114175318-114175319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185544984	chr2:114175350-114175351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141674923	chr2:114175367-114175368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565559159	chr2:114175423-114175424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534664566	chr2:114175433-114175434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548312377	chr2:114175449-114175450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568249348	chr2:114175464-114175465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537274815	chr2:114175542-114175543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557279813	chr2:114175589-114175590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111252902	chr2:114175610-114175611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577035068	chr2:114175718-114175719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369936189	chr2:114175745-114175746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62160000	chr2:114177936-114177937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2441394	chr2:114177945-114177946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs55700492	chr2:114177951-114177952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200904247	chr2:114177965-114177966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530575033	chr2:114178019-114178020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550705302	chr2:114178080-114178081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs60370771	chr2:114178096-114178097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62160001	chr2:114178129-114178130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371403752	chr2:114178143-114178144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370829075	chr2:114178154-114178155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2757955	chr2:114178183-114178184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368728987	chr2:114178254-114178255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113713933	chr2:114178317-114178318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112947210	chr2:114178320-114178321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114174200-114175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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