Variant report

Variant	esv21410
Chromosome Location	chr19:22211783-22226945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:22211370-22212109	A549	lung:	n/a	chr19:22211437-22211448
2	CEBPB	chr19:22222624-22222824	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:22211380-22212031	HepG2	liver:	n/a	chr19:22211437-22211448
4	CEBPB	chr19:22217961-22218207	A549	lung:	n/a	n/a
5	CEBPB	chr19:22226449-22227119	IMR90	lung:	n/a	n/a
6	CEBPB	chr19:22217046-22217652	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:22212805-22213005	HepG2	liver:	n/a	chr19:22212827-22212838
8	CEBPB	chr19:22217116-22217618	IMR90	lung:	n/a	n/a
9	CEBPB	chr19:22212649-22213006	Hela-S3	cervix:	n/a	chr19:22212827-22212838
10	CEBPB	chr19:22226283-22227250	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:22215569-22215843	A549	lung:	n/a	n/a
12	CEBPB	chr19:22222618-22223118	A549	lung:	n/a	n/a
13	CEBPB	chr19:22215562-22215802	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:22223974-22224098	A549	lung:	n/a	n/a
15	CEBPB	chr19:22219004-22219042	A549	lung:	n/a	n/a
16	CEBPB	chr19:22218058-22218252	IMR90	lung:	n/a	n/a
17	CEBPB	chr19:22217968-22218168	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:22217019-22217672	A549	lung:	n/a	n/a
19	CEBPB	chr19:22226274-22227084	A549	lung:	n/a	n/a
20	CTCF	chr19:22220948-22220982	Kidney_OC	kidney:	n/a	n/a
21	GTF2F1	chr19:22217343-22217367	Hela-S3	cervix:	n/a	n/a
22	JUND	chr19:22218549-22218677	HepG2	liver:	n/a	chr19:22218636-22218647
23	JUND	chr19:22213551-22213747	HepG2	liver:	n/a	chr19:22213716-22213727
24	MAFK	chr19:22217329-22217521	HepG2	liver:	n/a	n/a
25	NRF1	chr19:22215771-22215925	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:22222372-22222399	A549	lung:	n/a	n/a
27	POLR2A	chr19:22222427-22222448	A549	lung:	n/a	n/a
28	POLR2A	chr19:22220504-22220583	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22203510..22205947-chr19:22215522..22217797,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF208-2	chr19:22226302-22226327	ENSG00000269199.1
2	lnc-ZNF208-1	chr19:22217475-22217599	ENSG00000269504.1
3	lnc-ZNF208-1	chr19:22217900-22218011	ENSG00000269504.1
4	lnc-ZNF208-1	chr19:22218967-22219117	ENSG00000269504.1
5	lnc-ZNF208-1	chr19:22217683-22217800	ENSG00000269504.1
6	lnc-ZNF208-1	chr19:22217900-22217980	XLOC_013265

No data

Variant related genes	Relation type
ENSG00000269504	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560133356	chr19:22211802-22211803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367939942	chr19:22211813-22211814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530470830	chr19:22211815-22211816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79599044	chr19:22211816-22211817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191089453	chr19:22211848-22211849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183105233	chr19:22211933-22211934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117615485	chr19:22211983-22211984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572321038	chr19:22212031-22212032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs546227134	chr19:22212038-22212039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561210853	chr19:22212106-22212107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371371487	chr19:22212120-22212121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531732434	chr19:22212193-22212194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112991295	chr19:22217492-22217493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372072262	chr19:22217523-22217524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs148306909	chr19:22217551-22217552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564609455	chr19:22217564-22217565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs531672168	chr19:22217574-22217575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs74348725	chr19:22217591-22217592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561918176	chr19:22217597-22217598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550508855	chr19:22217694-22217695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs142815987	chr19:22217741-22217742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs527281680	chr19:22217755-22217756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147395021	chr19:22217756-22217757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184154218	chr19:22217799-22217800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs571938841	chr19:22217911-22217912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139645233	chr19:22217912-22217913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554033388	chr19:22217923-22217924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs572201531	chr19:22217932-22217933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192242698	chr19:22217954-22217955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs578101931	chr19:22218970-22218971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs147003626	chr19:22218976-22218977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557693512	chr19:22218991-22218992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs575969726	chr19:22219002-22219003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs543459347	chr19:22219020-22219021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561640618	chr19:22219030-22219031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529011931	chr19:22219042-22219043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs184512671	chr19:22219058-22219059	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559545149	chr19:22219103-22219104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs201299191	chr19:22220535-22220536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201726663	chr19:22220536-22220537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs403997	chr19:22220543-22220544	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567071715	chr19:22220561-22220562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs77105396	chr19:22220949-22220950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561111074	chr19:22220966-22220967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566582548	chr19:22222398-22222399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377650906	chr19:22222436-22222437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs545879515	chr19:22222688-22222689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564382634	chr19:22222694-22222695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576227370	chr19:22222695-22222696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549410366	chr19:22222786-22222787	Inactive region	TF binding region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22211400-22212200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22226400-22228800	Weak transcription	Aorta	Aorta

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