Variant report

Variant	esv3413925
Chromosome Location	chr19:23244204-23249094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:23249008-23249222	A549	lung:	n/a	n/a
2	CEBPB	chr19:23245824-23246792	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:23243868-23244224	IMR90	lung:	n/a	n/a
4	CEBPB	chr19:23249006-23249258	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:23243871-23244604	A549	lung:	n/a	n/a
6	CEBPB	chr19:23245823-23246211	IMR90	lung:	n/a	n/a
7	CEBPB	chr19:23246651-23246813	IMR90	lung:	n/a	n/a
8	CEBPB	chr19:23245848-23246757	A549	lung:	n/a	n/a
9	CEBPB	chr19:23248399-23248513	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:23248322-23248486	A549	lung:	n/a	n/a
11	CEBPB	chr19:23246650-23246851	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr19:23243902-23244512	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:23245846-23246038	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr19:23248955-23249251	HepG2	liver:	n/a	n/a
15	JUN	chr19:23245837-23246009	HepG2	liver:	n/a	chr19:23245923-23245936
16	JUND	chr19:23245795-23246055	HepG2	liver:	n/a	n/a
17	MAFF	chr19:23248312-23248388	HepG2	liver:	n/a	n/a
18	MAFK	chr19:23248212-23248460	HepG2	liver:	n/a	n/a
19	MAFK	chr19:23248191-23248530	HepG2	liver:	n/a	n/a
20	MAFK	chr19:23248210-23248450	IMR90	lung:	n/a	n/a
21	MAFK	chr19:23248344-23248407	K562	blood:	n/a	n/a
22	POLR2A	chr19:23246214-23246282	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-1	chr19:23244413-23244554	ENSG00000261615.2

No data

Variant related genes	Relation type
ENSG00000261615	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139953733	chr19:23244286-23244287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145380310	chr19:23244293-23244294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185864931	chr19:23244299-23244300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530187057	chr19:23244300-23244301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147664304	chr19:23244318-23244319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560406523	chr19:23244382-23244383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528025817	chr19:23244431-23244432	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs552267238	chr19:23244474-23244475	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs140416808	chr19:23244484-23244485	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs377477094	chr19:23244505-23244506	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs531625713	chr19:23244511-23244512	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs550201188	chr19:23244529-23244530	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs114086258	chr19:23244530-23244531	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs190207656	chr19:23244554-23244555	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs556114843	chr19:23245814-23245815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574034500	chr19:23245858-23245859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541448770	chr19:23245898-23245899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145443801	chr19:23245899-23245900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533314329	chr19:23245914-23245915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149147620	chr19:23245930-23245931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76399662	chr19:23245941-23245942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2963052	chr19:23245967-23245968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564161181	chr19:23245987-23245988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571285487	chr19:23246012-23246013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531550732	chr19:23246095-23246096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187960571	chr19:23246138-23246139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568019235	chr19:23246167-23246168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528848101	chr19:23246175-23246176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113272502	chr19:23246185-23246186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147259041	chr19:23246244-23246245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565745930	chr19:23246265-23246266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs193159952	chr19:23246267-23246268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148719244	chr19:23246383-23246384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs16999774	chr19:23246400-23246401	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs537643367	chr19:23246410-23246411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556053391	chr19:23246414-23246415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs574428269	chr19:23246422-23246423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185018774	chr19:23246424-23246425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142259315	chr19:23246468-23246469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs578039767	chr19:23246509-23246510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370174386	chr19:23246511-23246512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139614731	chr19:23246514-23246515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563827196	chr19:23246515-23246516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190710540	chr19:23246536-23246537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192394899	chr19:23246563-23246564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs543224106	chr19:23246597-23246598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77934858	chr19:23246599-23246600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs76349900	chr19:23246603-23246604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs143424891	chr19:23246612-23246613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529177322	chr19:23246674-23246675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23248200-23248600	Enhancers	Placenta	Placenta
2	chr19:23248600-23252600	Weak transcription	Placenta	Placenta

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