Variant report

Variant	nsv583234
Chromosome Location	chr2:142376540-142404955
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	CEBPB	chr2:142398949-142399398	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:142391093-142391444	HepG2	liver:	n/a	chr2:142391396-142391409 chr2:142391248-142391259 chr2:142391396-142391407
3	CEBPB	chr2:142388316-142388330	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:142391188-142391388	H1-hESC	embryonic stem cell:	n/a	chr2:142391248-142391259
5	CTCF	chr2:142381277-142381336	GM20000	blood:	n/a	n/a
6	E2F4	chr2:142379073-142379243	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr2:142390506-142390535	K562	blood:	n/a	n/a
8	FOS	chr2:142377662-142378307	HUVEC	blood vessel:	n/a	chr2:142378111-142378120 chr2:142378009-142378018
9	FOS	chr2:142377706-142377904	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:142399062-142399405	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:142399062-142399429	MCF10A-Er-Src	breast:	n/a	chr2:142399394-142399406
12	FOS	chr2:142399058-142399383	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:142377773-142377869	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:142399063-142399416	MCF10A-Er-Src	breast:	n/a	chr2:142399394-142399406
15	FOS	chr2:142377717-142377917	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr2:142399039-142399444	SK-N-SH	brain:	n/a	chr2:142399394-142399406
17	JUND	chr2:142399060-142399429	Hela-S3	cervix:	n/a	chr2:142399394-142399406
18	MAFF	chr2:142397395-142397754	HepG2	liver:	n/a	chr2:142397571-142397585 chr2:142397565-142397583
19	MAFF	chr2:142397398-142397730	K562	blood:	n/a	chr2:142397571-142397585 chr2:142397565-142397583
20	MAFK	chr2:142397429-142397694	H1-hESC	embryonic stem cell:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
21	MAFK	chr2:142397421-142397764	Hela-S3	cervix:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
22	MAFK	chr2:142397409-142397752	IMR90	lung:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
23	MAFK	chr2:142397391-142397753	HepG2	liver:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
24	MAFK	chr2:142397447-142397716	K562	blood:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
25	MAFK	chr2:142382771-142382875	HepG2	liver:	n/a	chr2:142382819-142382828
26	MAFK	chr2:142404942-142405240	IMR90	lung:	n/a	chr2:142405208-142405222 chr2:142405114-142405134 chr2:142405117-142405131 chr2:142405116-142405132
27	MAFK	chr2:142397393-142397761	HepG2	liver:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
28	MAFK	chr2:142399492-142399539	HepG2	liver:	n/a	chr2:142399521-142399532 chr2:142399516-142399532 chr2:142399519-142399533 chr2:142399521-142399532
29	NFYA	chr2:142380270-142380435	GM12878	blood:	n/a	n/a
30	NRF1	chr2:142392583-142392621	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:142399253-142399467	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:142392896-142393000	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:142385084-142385111	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:142402314-142402352	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:142385035-142385113	Gliobla	brain:	n/a	n/a
36	POLR2A	chr2:142385119-142385169	MCF-7	breast:	n/a	n/a
37	POLR2A	chr2:142384049-142384077	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:142385022-142385080	MCF-7	breast:	n/a	n/a
39	POLR2A	chr2:142402251-142402253	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:142377630-142377781	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:142402281-142402304	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:142390746-142390821	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr2:142386568-142386632	MCF10A-Er-Src	breast:	n/a	n/a
44	TEAD4	chr2:142399125-142399382	ECC-1	luminal epithelium:	n/a	chr2:142399222-142399231
45	ZNF384	chr2:142393608-142393609	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:142399705..142402607-chr2:142407743..142409987,2	MCF-7	breast:
2	chr2:142386784..142389689-chr2:142401427..142404139,2	MCF-7	breast:
3	chr2:142398871..142401024-chr2:142404435..142406777,2	MCF-7	breast:
4	chr2:142386784..142389689-chr2:142401427..142404139,2	MCF-7	breast:
5	chr2:142322809..142324424-chr2:142379273..142380846,2	MCF-7	breast:
6	chr2:142399092..142400937-chr2:142401190..142403149,2	MCF-7	breast:
7	chr2:142398871..142401024-chr2:142404435..142406777,2	MCF-7	breast:
8	chr2:142399092..142400937-chr2:142401190..142403149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265224	TF binding region

Extended variants
information (count: 378 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11681602	chr2:142376540-142376541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112172782	chr2:142376555-142376556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551131450	chr2:142376559-142376560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181490870	chr2:142376574-142376575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571125050	chr2:142376595-142376596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186686214	chr2:142376613-142376614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553561715	chr2:142376638-142376639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573723413	chr2:142376661-142376662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535860079	chr2:142376684-142376685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556130687	chr2:142376713-142376714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575964724	chr2:142376743-142376744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191993388	chr2:142376752-142376753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552662563	chr2:142376777-142376778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564638688	chr2:142376812-142376813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183842989	chr2:142376827-142376828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540849707	chr2:142376841-142376842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6755592	chr2:142376873-142376874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs36072605	chr2:142376897-142376898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549059404	chr2:142376899-142376900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577700308	chr2:142376900-142376901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562562631	chr2:142376907-142376908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531467229	chr2:142376928-142376929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189210229	chr2:142376943-142376944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571234339	chr2:142376955-142376956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533742853	chr2:142376989-142376990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547609402	chr2:142376997-142376998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145016959	chr2:142377626-142377627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554037739	chr2:142377630-142377631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138798974	chr2:142377676-142377677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142262117	chr2:142377688-142377689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556233957	chr2:142377702-142377703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576166381	chr2:142377840-142377841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79701424	chr2:142377856-142377857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188376418	chr2:142377918-142377919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374858502	chr2:142377925-142377926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527565554	chr2:142377926-142377927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558327569	chr2:142377937-142377938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193195246	chr2:142377938-142377939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117989684	chr2:142378022-142378023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370256403	chr2:142378082-142378083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550047235	chr2:142378096-142378097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561615848	chr2:142378110-142378111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529642475	chr2:142378139-142378140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552156501	chr2:142378161-142378162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565685033	chr2:142378194-142378195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534353918	chr2:142378213-142378214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150894240	chr2:142378223-142378224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560595205	chr2:142378229-142378230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58734528	chr2:142378232-142378233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573360089	chr2:142378237-142378238	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142370000-142376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:142376800-142377000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:142377600-142378800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:142378000-142378800	Enhancers	Liver	Liver
5	chr2:142388600-142388800	Enhancers	Gastric	stomach
6	chr2:142393000-142399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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