Variant report

Variant	nsv1058134
Chromosome Location	chr19:22997116-23067875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:230)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:23002970-23003071	K562	blood:	n/a	chr19:23003053-23003064
2	CEBPB	chr19:23003921-23004324	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:22997404-22997669	A549	lung:	n/a	n/a
4	CEBPB	chr19:23001479-23001818	A549	lung:	n/a	n/a
5	CEBPB	chr19:23002958-23003235	HepG2	liver:	n/a	chr19:23003053-23003064
6	CEBPB	chr19:23024786-23024905	A549	lung:	n/a	chr19:23024862-23024873
7	CEBPB	chr19:22997001-22997613	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:23002145-23003395	A549	lung:	n/a	chr19:23002465-23002476 chr19:23003053-23003064
9	CEBPB	chr19:23006460-23006623	A549	lung:	n/a	n/a
10	CEBPB	chr19:23002355-23002748	HepG2	liver:	n/a	chr19:23002465-23002476
11	CEBPB	chr19:23001613-23001749	K562	blood:	n/a	n/a
12	CEBPB	chr19:23024815-23025038	HepG2	liver:	n/a	chr19:23024862-23024873
13	CEBPB	chr19:23008256-23008407	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:23002440-23002642	IMR90	lung:	n/a	chr19:23002465-23002476
15	CEBPB	chr19:23009893-23009974	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:23001546-23001897	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:23008247-23008820	A549	lung:	n/a	n/a
18	CEBPB	chr19:23004007-23004221	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:22999616-23000596	A549	lung:	n/a	n/a
20	CEBPB	chr19:22998315-22998467	A549	lung:	n/a	n/a
21	CEBPB	chr19:22999584-23000528	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:23006836-23006990	A549	lung:	n/a	n/a
23	CEBPB	chr19:23007248-23007255	HepG2	liver:	n/a	n/a
24	CEBPB	chr19:22999600-23000550	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:23003914-23004363	A549	lung:	n/a	n/a
26	CEBPB	chr19:23009124-23009295	A549	lung:	n/a	n/a
27	CEBPB	chr19:22998228-22998229	HepG2	liver:	n/a	n/a
28	CEBPB	chr19:23001479-23001923	IMR90	lung:	n/a	n/a
29	CEBPB	chr19:23009918-23009982	IMR90	lung:	n/a	n/a
30	CEBPB	chr19:23024689-23025038	IMR90	lung:	n/a	chr19:23024862-23024873
31	CTCF	chr19:23065780-23065930	HCM	heart:	n/a	n/a
32	CTCF	chr19:23065720-23065870	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr19:23065800-23065950	AG09309	skin:	n/a	n/a
34	CTCF	chr19:23065620-23065770	RPTEC	kidney:	n/a	n/a
35	CTCF	chr19:23065686-23065919	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:23065680-23065830	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr19:23065760-23065910	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:23065714-23065874	LNCaP	prostate:	n/a	n/a
39	CTCF	chr19:23065720-23065870	GM12873	blood:	n/a	n/a
40	CTCF	chr19:23065711-23065893	Gliobla	brain:	n/a	n/a
41	CTCF	chr19:23065707-23065903	K562	blood:	n/a	n/a
42	CTCF	chr19:23065720-23065870	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr19:23065720-23065900	GM12878	blood:	n/a	n/a
44	CTCF	chr19:23065635-23065962	K562	blood:	n/a	n/a
45	CTCF	chr19:23065738-23065868	Lung_OC	lung:	n/a	n/a
46	CTCF	chr19:23065780-23065886	GM10266	blood:	n/a	n/a
47	CTCF	chr19:23065740-23065890	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr19:23065720-23065870	GM12872	blood:	n/a	n/a
49	CTCF	chr19:23065680-23065830	HL-60	blood:	n/a	n/a
50	CTCF	chr19:23065760-23065910	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23062117..23064489-chr8:12599332..12601414,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011467.1-1	chr19:23003902-23004064	XLOC_013015
2	lnc-AC011467.1-1	chr19:23003240-23003295	XLOC_013015
3	lnc-ZNF99-3	chr19:23023234-23023723	NONHSAT063824
4	lnc-AC011467.1-4	chr19:23006422-23006528	NONHSAT063823
5	lnc-AC011467.1-5	chr19:23039920-23040249	NONHSAT063825
6	lnc-AC011467.1-4	chr19:23007223-23007327	NONHSAT063823
7	lnc-AC011467.1-4	chr19:23004067-23004135	NONHSAT063823
8	lnc-AC011467.1-6	chr19:23044105-23044396	NONHSAT063826
9	lnc-AC011467.1-5	chr19:23031998-23032095	NONHSAT063825

No data

Variant related genes	Relation type
ZNF723	TF binding region
VN1R88P	TF binding region
ENSG00000271655	TF binding region
ENSG00000154359	chromatin interactions

Extended variants
information (count: 954 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398945	chr19:22997116-22997117	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145905577	chr19:22997121-22997122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565806791	chr19:22997122-22997123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539629732	chr19:22997177-22997178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs35568863	chr19:22997202-22997203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569986669	chr19:22997221-22997222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537360554	chr19:22997232-22997233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565042782	chr19:22997299-22997300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12459515	chr19:22997307-22997308	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs573952105	chr19:22997342-22997343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541460218	chr19:22997370-22997371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553184819	chr19:22997424-22997425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138715813	chr19:22997444-22997445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546001395	chr19:22997450-22997451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113298550	chr19:22997533-22997534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564298639	chr19:22997617-22997618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531603230	chr19:22997618-22997619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543362120	chr19:22997624-22997625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561679542	chr19:22997684-22997685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561371203	chr19:22997694-22997695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528871289	chr19:22997735-22997736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547402276	chr19:22997741-22997742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs79739271	chr19:22997834-22997835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550468707	chr19:22997846-22997847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532885492	chr19:22997860-22997861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142728305	chr19:22997864-22997865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376594807	chr19:22997866-22997867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375261869	chr19:22997905-22997906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569922357	chr19:22997922-22997923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537700725	chr19:22997929-22997930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555780357	chr19:22997980-22997981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73927466	chr19:22998007-22998008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534696311	chr19:22998097-22998098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144904603	chr19:22998143-22998144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185998583	chr19:22998151-22998152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190859287	chr19:22998154-22998155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs427709	chr19:22998163-22998164	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557944913	chr19:22998165-22998166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183104771	chr19:22998183-22998184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543650693	chr19:22998275-22998276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561817903	chr19:22998287-22998288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573905790	chr19:22998293-22998294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2617779	chr19:22998321-22998322	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370053257	chr19:22998323-22998324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558938629	chr19:22998350-22998351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147352380	chr19:22998369-22998370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs551061946	chr19:22998417-22998418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs453723	chr19:22998489-22998490	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs137876442	chr19:22998588-22998589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149644306	chr19:22998597-22998598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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	19587683	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22997000-23005800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:23003800-23005800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr19:23005400-23005600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:23005400-23005600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:23005400-23005600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:23005400-23005600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:23005400-23005600	Flanking Bivalent TSS/Enh	HSMM	muscle
8	chr19:23005400-23005600	Enhancers	HSMMtube	muscle
9	chr19:23005400-23005600	ZNF genes & repeats	NHLF	lung
10	chr19:23007000-23007400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23008400-23009200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:23015000-23015400	Active TSS	HUVEC	blood vessel
13	chr19:23015000-23015600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:23038200-23041400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:23038200-23046200	ZNF genes & repeats	Liver	Liver
16	chr19:23038400-23042800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:23039200-23041800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:23039200-23044400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:23039400-23042000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr19:23040600-23041400	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr19:23041800-23042200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:23043000-23043800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:23062400-23063600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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