Variant report

Variant	nsv2445
Chromosome Location	chr19:23204717-23237129
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	BRCA1	chr19:23234916-23235282	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr19:23231351-23231562	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:23207887-23208193	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:23226077-23226520	A549	lung:	n/a	chr19:23226432-23226443
5	CEBPB	chr19:23235188-23235496	MCF-7	breast:	n/a	n/a
6	CEBPB	chr19:23206167-23206688	A549	lung:	n/a	n/a
7	CEBPB	chr19:23229545-23230417	A549	lung:	n/a	chr19:23229716-23229727
8	CEBPB	chr19:23226361-23226497	Hela-S3	cervix:	n/a	chr19:23226432-23226443
9	CEBPB	chr19:23226238-23226550	HepG2	liver:	n/a	chr19:23226432-23226443
10	CEBPB	chr19:23206269-23206711	IMR90	lung:	n/a	n/a
11	CEBPB	chr19:23207880-23208192	A549	lung:	n/a	n/a
12	CEBPB	chr19:23227697-23228429	A549	lung:	n/a	n/a
13	CEBPB	chr19:23231813-23232062	A549	lung:	n/a	n/a
14	CEBPB	chr19:23224157-23224181	A549	lung:	n/a	n/a
15	CEBPB	chr19:23229583-23230487	HepG2	liver:	n/a	chr19:23229716-23229727
16	CEBPB	chr19:23233199-23233351	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:23227636-23228317	IMR90	lung:	n/a	n/a
18	CEBPB	chr19:23229558-23230207	IMR90	lung:	n/a	chr19:23229716-23229727
19	CEBPB	chr19:23204665-23204837	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:23234819-23235804	IMR90	lung:	n/a	chr19:23235596-23235607
21	CEBPB	chr19:23235104-23235924	A549	lung:	n/a	chr19:23235596-23235607
22	CEBPB	chr19:23234798-23235955	HepG2	liver:	n/a	chr19:23235596-23235607
23	CEBPB	chr19:23206166-23206660	HepG2	liver:	n/a	n/a
24	CEBPB	chr19:23229563-23229902	K562	blood:	n/a	chr19:23229716-23229727
25	CEBPB	chr19:23227798-23228413	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:23231881-23232048	HepG2	liver:	n/a	n/a
27	CEBPB	chr19:23204663-23204837	A549	lung:	n/a	n/a
28	CEBPB	chr19:23231322-23231563	A549	lung:	n/a	n/a
29	CEBPB	chr19:23227369-23227413	A549	lung:	n/a	n/a
30	CEBPB	chr19:23235099-23235500	K562	blood:	n/a	n/a
31	CEBPB	chr19:23207915-23208223	IMR90	lung:	n/a	n/a
32	CEBPB	chr19:23226155-23226574	IMR90	lung:	n/a	chr19:23226432-23226443
33	CEBPB	chr19:23233270-23233318	A549	lung:	n/a	n/a
34	CTCF	chr19:23217588-23217627	GM13976	blood:	n/a	n/a
35	GATA2	chr19:23218914-23219326	K562	blood:	n/a	n/a
36	JUND	chr19:23205661-23205893	HepG2	liver:	n/a	chr19:23205762-23205773
37	MAFF	chr19:23210989-23211056	HepG2	liver:	n/a	chr19:23211023-23211041
38	MAFF	chr19:23206426-23206672	HepG2	liver:	n/a	chr19:23206514-23206532
39	MAFK	chr19:23235157-23235335	HepG2	liver:	n/a	n/a
40	MAFK	chr19:23206372-23206674	HepG2	liver:	n/a	chr19:23206515-23206530
41	MAFK	chr19:23220415-23220615	HepG2	liver:	n/a	n/a
42	MAFK	chr19:23210954-23211154	HepG2	liver:	n/a	n/a
43	MAFK	chr19:23206380-23206579	HepG2	liver:	n/a	chr19:23206515-23206530
44	MAFK	chr19:23210904-23211182	HepG2	liver:	n/a	n/a
45	MAFK	chr19:23206390-23206642	IMR90	lung:	n/a	chr19:23206515-23206530
46	MYC	chr19:23213724-23213907	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:23207562-23207598	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr19:23208021-23208091	MCF10A-Er-Src	breast:	n/a	n/a
49	TBP	chr19:23235272-23235299	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-1	chr19:23214621-23214654	XLOC_013273
2	lnc-ZNF724P-2	chr19:23206251-23206409	XLOC_013272
3	lnc-ZNF724P-1	chr19:23229875-23229898	NONHSAT063848
4	lnc-ZNF724P-2	chr19:23206322-23206409	XLOC_013272
5	lnc-ZNF724P-2	chr19:23206969-23207156	NONHSAT063845
6	lnc-ZNF724P-2	chr19:23206148-23206300	NONHSAT063845
7	lnc-ZNF724P-2	chr19:23206322-23206409	XLOC_013272
8	lnc-ZNF724P-1	chr19:23229760-23229898	ENSG00000261615.2

Variant related genes	Relation type
ENSG00000261558	TF binding region
SUV420H1	miRNA target sites

Extended variants
information (count: 594 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112964754	chr19:23204723-23204724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114430225	chr19:23204783-23204784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565613370	chr19:23204805-23204806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539536170	chr19:23204816-23204817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs35421161	chr19:23204830-23204831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557725558	chr19:23204832-23204833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181600480	chr19:23204845-23204846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139462976	chr19:23204907-23204908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573351981	chr19:23204908-23204909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7249695	chr19:23204923-23204924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535254398	chr19:23204925-23204926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs573683890	chr19:23204927-23204928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541036237	chr19:23204930-23204931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199683512	chr19:23204956-23204957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559710491	chr19:23204966-23204967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185131934	chr19:23204972-23204973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114994066	chr19:23205008-23205009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564122602	chr19:23205095-23205096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531576844	chr19:23205129-23205130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145878853	chr19:23205168-23205169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115528888	chr19:23205182-23205183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs58521262	chr19:23205184-23205185	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201668239	chr19:23205197-23205198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376399010	chr19:23205264-23205265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140706606	chr19:23205293-23205294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565679217	chr19:23205319-23205320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs117335348	chr19:23205400-23205401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539114776	chr19:23205402-23205403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557884586	chr19:23205430-23205431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569908177	chr19:23205433-23205434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144440206	chr19:23205523-23205524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575898580	chr19:23205544-23205545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555620938	chr19:23205563-23205564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs16998765	chr19:23205564-23205565	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146604799	chr19:23205604-23205605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553042119	chr19:23205645-23205646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544827048	chr19:23205702-23205703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs578004580	chr19:23205715-23205716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs16999718	chr19:23205719-23205720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563805922	chr19:23205744-23205745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566479965	chr19:23205749-23205750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565044556	chr19:23205755-23205756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73555408	chr19:23205790-23205791	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141323114	chr19:23205801-23205802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561881575	chr19:23205802-23205803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529163239	chr19:23205811-23205812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs118108463	chr19:23205816-23205817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565538720	chr19:23205834-23205835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532988109	chr19:23205837-23205838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35444005	chr19:23205862-23205863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23203400-23206200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:23215800-23217000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:23216000-23216400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:23216400-23217200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:23217000-23217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:23217000-23217800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr19:23217200-23217800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:23217200-23218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:23217800-23218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:23218000-23218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23218800-23219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:23218800-23219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:23219000-23222000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:23219200-23220200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:23220200-23220400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:23220200-23221400	Enhancers	Fetal Heart	heart
17	chr19:23220400-23220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:23220800-23221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:23222000-23222400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:23223800-23224000	ZNF genes & repeats	Fetal Brain Female	brain
21	chr19:23231200-23232000	ZNF genes & repeats	Pancreas	Pancrea
22	chr19:23231400-23232800	Enhancers	Placenta	Placenta
23	chr19:23232800-23235000	Weak transcription	Placenta	Placenta
24	chr19:23235000-23235800	Enhancers	Placenta	Placenta
25	chr19:23235800-23237200	Weak transcription	Placenta	Placenta

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