Variant report

Variant	nsv1065992
Chromosome Location	chr19:56703836-56722747
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	chr19:56720561-56720808	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr19:56711153-56711485	Hela-S3	cervix:	n/a	chr19:56711325-56711336
3	CEBPB	chr19:56716429-56716798	A549	lung:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
4	CEBPB	chr19:56716360-56717024	Hela-S3	cervix:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
5	CEBPB	chr19:56711159-56711500	A549	lung:	n/a	chr19:56711325-56711336
6	CEBPB	chr19:56707830-56708066	K562	blood:	n/a	n/a
7	CEBPB	chr19:56709309-56709335	K562	blood:	n/a	n/a
8	CEBPB	chr19:56716430-56716674	HepG2	liver:	n/a	chr19:56716533-56716544
9	CEBPB	chr19:56711145-56711495	H1-hESC	embryonic stem cell:	n/a	chr19:56711325-56711336
10	CEBPB	chr19:56716510-56716908	K562	blood:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
11	CEBPB	chr19:56711156-56711414	HepG2	liver:	n/a	chr19:56711325-56711336
12	CEBPB	chr19:56705349-56705533	A549	lung:	n/a	chr19:56705438-56705449
13	CEBPB	chr19:56705414-56705462	HepG2	liver:	n/a	chr19:56705438-56705449
14	CEBPB	chr19:56711161-56711465	K562	blood:	n/a	chr19:56711325-56711336
15	CEBPB	chr19:56711177-56711471	IMR90	lung:	n/a	chr19:56711325-56711336
16	CEBPB	chr19:56711237-56711378	HepG2	liver:	n/a	chr19:56711325-56711336
17	CEBPB	chr19:56720517-56720847	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr19:56716455-56716760	IMR90	lung:	n/a	chr19:56716533-56716544
19	CEBPB	chr19:56705321-56705483	K562	blood:	n/a	chr19:56705438-56705449
20	CEBPB	chr19:56711141-56711460	HepG2	liver:	n/a	chr19:56711325-56711336
21	CEBPB	chr19:56711122-56711514	HepG2	liver:	n/a	chr19:56711325-56711336
22	CHD2	chr19:56720040-56720297	K562	blood:	n/a	n/a
23	CHD2	chr19:56720635-56720730	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr19:56704168-56704250	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr19:56719139-56719185	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr19:56719125-56719164	NHEK	skin:	n/a	n/a
27	CTCF	chr19:56719090-56719220	ProgFib	skin:	n/a	n/a
28	CTCF	chr19:56717450-56717530	GM10248	blood:	n/a	n/a
29	CTCF	chr19:56720342-56720426	HepG2	liver:	n/a	n/a
30	CTCF	chr19:56706741-56706864	GM20000	blood:	n/a	n/a
31	CTCF	chr19:56719033-56719288	K562	blood:	n/a	n/a
32	CTCF	chr19:56718991-56719322	K562	blood:	n/a	n/a
33	CTCF	chr19:56719180-56719330	HepG2	liver:	n/a	n/a
34	CTCF	chr19:56706787-56706829	GM10248	blood:	n/a	n/a
35	CTCF	chr19:56704155-56704208	GM10266	blood:	n/a	n/a
36	CTCF	chr19:56717462-56717501	LNCaP	prostate:	n/a	n/a
37	CTCF	chr19:56719050-56719211	LNCaP	prostate:	n/a	n/a
38	CTCF	chr19:56719073-56719254	K562	blood:	n/a	n/a
39	CTCF	chr19:56717496-56717536	Lung_OC	lung:	n/a	n/a
40	CTCF	chr19:56710137-56710147	LNCaP	prostate:	n/a	n/a
41	CTCF	chr19:56718336-56718366	GM13977	blood:	n/a	n/a
42	CTCF	chr19:56719079-56719185	GM12878	blood:	n/a	n/a
43	CTCF	chr19:56719078-56719262	GM12891	blood:	n/a	n/a
44	CTCF	chr19:56719082-56719234	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:56719180-56719330	HEK293	kidney:	n/a	n/a
46	CTCF	chr19:56719041-56719244	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:56720375-56720428	K562	blood:	n/a	n/a
48	CTCF	chr19:56720338-56720341	HepG2	liver:	n/a	n/a
49	CTCF	chr19:56719019-56719288	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:56715762-56715839	Pancreas_OC	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56705497-56705547	HCPEpiC	choroid plexus:	n/a
2	chr19:56705497-56705547	HCPEpiC	choroid plexus:	n/a
3	chr19:56705497-56705547	Jurkat	blood:	n/a
4	chr19:56709056-56709106	HNPCEpiC	eye:	n/a
5	chr19:56707808-56707858	SKMC	muscle:	n/a
6	chr19:56705433-56705483	NT2-D1	testis:	n/a
7	chr19:56705497-56705547	SK-N-MC	brain:	n/a
8	chr19:56711667-56711717	GM06990	blood:	n/a
9	chr19:56705497-56705547	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:56707808-56707858	CMK	blood:	n/a
11	chr19:56707808-56707858	GM19239	blood:	n/a
12	chr19:56709655-56709705	HCPEpiC	choroid plexus:	n/a
13	chr19:56709655-56709705	HIPEpiC	eye:	n/a
14	chr19:56705386-56705436	HRPEpiC	eye:	n/a
15	chr19:56705433-56705483	HCT-116	colon:	n/a
16	chr19:56709056-56709106	Hepatocyte	liver:	n/a
17	chr19:56707808-56707858	Caco-2	colon:	n/a
18	chr19:56704341-56704391	NHDF-neo	bronchial:	n/a
19	chr19:56709228-56709278	HRPEpiC	eye:	n/a
20	chr19:56709228-56709278	NHBE	bronchial:	n/a
21	chr19:56704341-56704391	GM06990	blood:	n/a
22	chr19:56705386-56705436	A549	lung:	n/a
23	chr19:56709228-56709278	ProgFib	skin:	n/a
24	chr19:56705433-56705483	HMEC	breast:	n/a
25	chr19:56711667-56711717	HRPEpiC	eye:	n/a
26	chr19:56711667-56711717	HEK293	kidney:	embryo
27	chr19:56705386-56705436	GM19239	blood:	n/a
28	chr19:56711667-56711717	MCF-7	breast:	n/a
29	chr19:56707808-56707858	GM12892	blood:	n/a
30	chr19:56709228-56709278	GM19239	blood:	n/a
31	chr19:56704341-56704391	SK-N-MC	brain:	n/a
32	chr19:56709228-56709278	BE2_C	brain:	n/a
33	chr19:56707808-56707858	PrEC	prostate:	n/a
34	chr19:56709655-56709705	SK-N-SH	brain:	n/a
35	chr19:56707808-56707858	HIPEpiC	eye:	n/a
36	chr19:56705386-56705436	NH-A	brain:	n/a
37	chr19:56709228-56709278	AG04450	lung:	fetal
38	chr19:56705386-56705436	GM12891	blood:	n/a
39	chr19:56705497-56705547	GM06990	blood:	n/a
40	chr19:56705497-56705547	PFSK-1	brain:	n/a
41	chr19:56711667-56711717	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:56711667-56711717	AG04450	lung:	fetal
43	chr19:56704341-56704391	PrEC	prostate:	n/a
44	chr19:56709056-56709106	AG09309	skin:	n/a
45	chr19:56705433-56705483	GM12878	blood:	n/a
46	chr19:56709655-56709705	SKMC	muscle:	n/a
47	chr19:56709228-56709278	SK-N-SH	brain:	n/a
48	chr19:56709228-56709278	HL-60	blood:	n/a
49	chr19:56709655-56709705	NT2-D1	testis:	n/a
50	chr19:56707808-56707858	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56706835..56708923-chr19:56717136..56719247,2	K562	blood:
2	chr19:56717707..56719210-chr19:56732793..56735030,2	MCF-7	breast:

Variant related genes	Relation type
ZSCAN5B	TF binding region
ZSCAN5C	TF binding region
ZSCAN5B	CpG island
ZSCAN5C	CpG island
ENSG00000204532	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34181873	chr19:56705325-56705326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs569501010	chr19:56705326-56705327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569320789	chr19:56705342-56705343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs60591854	chr19:56705343-56705344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs71184332	chr19:56705344-56705345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191925232	chr19:56705360-56705361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572768183	chr19:56705363-56705364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373534845	chr19:56705387-56705388	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs544692879	chr19:56705442-56705443	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs78444867	chr19:56705469-56705470	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs564907861	chr19:56705480-56705481	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs575986267	chr19:56705554-56705555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544968208	chr19:56705617-56705618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376547538	chr19:56705690-56705691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184110508	chr19:56705742-56705743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560405648	chr19:56705769-56705770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375994236	chr19:56705785-56705786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190360681	chr19:56705787-56705788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375180794	chr19:56705788-56705789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369772972	chr19:56705790-56705791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568993880	chr19:56706753-56706754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs537965813	chr19:56706807-56706808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554587563	chr19:56706811-56706812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568086155	chr19:56706869-56706870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7251435	chr19:56706894-56706895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58916478	chr19:56706917-56706918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554460320	chr19:56706920-56706921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28645842	chr19:56706925-56706926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544728831	chr19:56706958-56706959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62120853	chr19:56706978-56706979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185227034	chr19:56706980-56706981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4801684	chr19:56706994-56706995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576114433	chr19:56707006-56707007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7250670	chr19:56707018-56707019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9973244	chr19:56707038-56707039	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61469428	chr19:56707048-56707049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56864483	chr19:56707050-56707051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560411982	chr19:56707086-56707087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561231197	chr19:56707098-56707099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532317238	chr19:56707163-56707164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368676605	chr19:56707220-56707221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10410743	chr19:56707221-56707222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs397760015	chr19:56707222-56707223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9973245	chr19:56707343-56707344	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542055087	chr19:56707370-56707371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577564170	chr19:56707374-56707375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139789363	chr19:56707419-56707420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58805847	chr19:56707468-56707469	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547747490	chr19:56707473-56707474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181283933	chr19:56707484-56707485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56705400-56705800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:56710800-56712400	Enhancers	Liver	Liver
3	chr19:56711000-56711200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:56711000-56711800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr19:56711600-56711800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr19:56716600-56717200	Bivalent Enhancer	Hela-S3	cervix

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