Variant report

Variant	nsv963619
Chromosome Location	chr2:72202518-72216578
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	chr2:72213891-72214169	HepG2	liver:	n/a	chr2:72213979-72213990
2	CEBPB	chr2:72213948-72214126	A549	lung:	n/a	chr2:72213979-72213990
3	CTCF	chr2:72208813-72208922	LNCaP	prostate:	n/a	n/a
4	CTCF	chr2:72205377-72205420	Fibrobl	skin:	n/a	n/a
5	EP300	chr2:72215260-72215663	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr2:72203613-72204552	SK-N-SH	brain:	n/a	n/a
7	EP300	chr2:72214983-72215987	SK-N-SH	brain:	n/a	n/a
8	EP300	chr2:72203833-72204261	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr2:72203763-72204261	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr2:72215277-72215544	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr2:72201812-72202563	MCF10A-Er-Src	breast:	n/a	chr2:72202424-72202431 chr2:72202209-72202218 chr2:72202422-72202432 chr2:72202423-72202431 chr2:72202209-72202217 chr2:72202208-72202217 chr2:72202377-72202386 chr2:72202209-72202216 chr2:72202421-72202433
12	FOS	chr2:72201757-72202663	MCF10A-Er-Src	breast:	n/a	chr2:72202424-72202431 chr2:72202209-72202218 chr2:72202422-72202432 chr2:72202423-72202431 chr2:72202209-72202217 chr2:72202208-72202217 chr2:72202377-72202386 chr2:72202209-72202216 chr2:72202421-72202433
13	FOS	chr2:72201756-72202598	MCF10A-Er-Src	breast:	n/a	chr2:72202424-72202431 chr2:72202209-72202218 chr2:72202422-72202432 chr2:72202423-72202431 chr2:72202209-72202217 chr2:72202208-72202217 chr2:72202377-72202386 chr2:72202209-72202216 chr2:72202421-72202433
14	FOXA1	chr2:72213120-72213538	HepG2	liver:	n/a	chr2:72213349-72213364
15	GATA2	chr2:72215237-72215548	SH-SY5Y	brain:	n/a	n/a
16	GATA2	chr2:72203824-72204302	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr2:72203782-72204372	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr2:72203756-72204261	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr2:72215274-72215736	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr2:72203771-72204304	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:72215259-72215702	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr2:72215298-72215765	SK-N-SH	brain:	n/a	n/a
23	JUND	chr2:72202072-72202571	HepG2	liver:	n/a	chr2:72202207-72202218 chr2:72202424-72202431 chr2:72202209-72202218 chr2:72202422-72202432 chr2:72202423-72202431 chr2:72202209-72202217 chr2:72202208-72202217 chr2:72202377-72202386 chr2:72202209-72202216 chr2:72202421-72202433
24	KAP1	chr2:72208020-72208225	K562	blood:	n/a	n/a
25	MAFF	chr2:72203874-72204083	HepG2	liver:	n/a	n/a
26	MAFF	chr2:72202339-72202539	HepG2	liver:	n/a	chr2:72202421-72202439
27	MAFK	chr2:72203923-72204149	HepG2	liver:	n/a	n/a
28	MAFK	chr2:72203892-72204163	HepG2	liver:	n/a	n/a
29	MYC	chr2:72202418-72202618	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:72209472-72209602	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:72205491-72205549	A549	lung:	n/a	n/a
32	POLR2A	chr2:72214135-72214335	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:72211007-72211104	A549	lung:	n/a	n/a
34	POLR2A	chr2:72203833-72204155	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr2:72215290-72215600	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr2:72210804-72210846	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:72203900-72204087	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:72206338-72206510	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr2:72203915-72204216	SK-N-SH_RA	brain:	n/a	n/a
40	SETDB1	chr2:72212931-72213225	U2OS	brain:	n/a	n/a
41	STAT3	chr2:72201836-72202599	MCF10A-Er-Src	breast:	n/a	chr2:72202209-72202218 chr2:72202208-72202217
42	STAT3	chr2:72203771-72203790	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr2:72201777-72202712	MCF10A-Er-Src	breast:	n/a	chr2:72202209-72202218 chr2:72202208-72202217
44	STAT3	chr2:72201833-72202577	MCF10A-Er-Src	breast:	n/a	chr2:72202209-72202218 chr2:72202208-72202217
45	STAT3	chr2:72201769-72202722	MCF10A-Er-Src	breast:	n/a	chr2:72202209-72202218 chr2:72202208-72202217
46	STAT3	chr2:72213714-72213931	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF12	chr2:72215223-72215721	SK-N-SH	brain:	n/a	n/a
48	TCF12	chr2:72215210-72215696	SK-N-SH	brain:	n/a	n/a
49	TCF12	chr2:72203757-72204337	SK-N-SH	brain:	n/a	n/a
50	TEAD4	chr2:72215299-72215623	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72206068..72206655-chr2:134299699..134300454,2	MCF-7	breast:
2	chr2:72198746..72201447-chr2:72212541..72214422,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP26B1-4	chr2:72211312-72211564	NONHSAT071572

Variant related genes	Relation type
RPS20P10	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547129759	chr2:72202532-72202533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140408196	chr2:72202552-72202553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544986353	chr2:72202565-72202566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114956691	chr2:72202577-72202578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572348562	chr2:72202647-72202648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184124309	chr2:72202703-72202704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560917369	chr2:72202717-72202718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527460667	chr2:72202772-72202773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565776093	chr2:72211351-72211352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs529621644	chr2:72211387-72211388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs7594591	chr2:72211390-72211391	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193080004	chr2:72211394-72211395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373988774	chr2:72211401-72211402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs111300051	chr2:72211408-72211409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs377000328	chr2:72211415-72211416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs185829900	chr2:72211431-72211432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs570508412	chr2:72211455-72211456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534829497	chr2:72211471-72211472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553158501	chr2:72211542-72211543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563055011	chr2:72212935-72212936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530393526	chr2:72212969-72212970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116838592	chr2:72213064-72213065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150001414	chr2:72213129-72213130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145365876	chr2:72213212-72213213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546469161	chr2:72213219-72213220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547308439	chr2:72213312-72213313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568291297	chr2:72213313-72213314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528485966	chr2:72213342-72213343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149199746	chr2:72213439-72213440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551054140	chr2:72213508-72213509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34866695	chr2:72213724-72213725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs56186306	chr2:72213781-72213782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575023867	chr2:72213794-72213795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556138597	chr2:72213803-72213804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543092997	chr2:72213836-72213837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564150616	chr2:72213846-72213847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182002523	chr2:72213874-72213875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6546735	chr2:72213876-72213877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187259653	chr2:72213883-72213884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529064448	chr2:72213890-72213891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550815763	chr2:72213939-72213940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569350293	chr2:72213947-72213948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533498869	chr2:72213965-72213966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369741528	chr2:72213992-72213993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577537592	chr2:72214024-72214025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs144809163	chr2:72214051-72214052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111498036	chr2:72214067-72214068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201912662	chr2:72214086-72214087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs13012092	chr2:72214102-72214103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112719351	chr2:72214105-72214106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72201200-72202800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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