Variant report

Variant	nsv1067455
Chromosome Location	chr19:21053665-21141787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:610)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:21106073-21106302	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr19:21106064-21106734	GM12878	blood:	n/a	n/a
3	BHLHE40	chr19:21106054-21106146	GM12878	blood:	n/a	n/a
4	BRCA1	chr19:21106099-21106247	GM12878	blood:	n/a	n/a
5	CEBPB	chr19:21106059-21106307	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr19:21113313-21113547	A549	lung:	n/a	chr19:21113372-21113383
7	CEBPB	chr19:21113246-21113536	HepG2	liver:	n/a	chr19:21113372-21113383
8	CEBPB	chr19:21113225-21113528	IMR90	lung:	n/a	chr19:21113372-21113383
9	CEBPB	chr19:21129511-21129516	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:21111223-21111588	IMR90	lung:	n/a	n/a
11	CHD1	chr19:21106153-21106576	GM12878	blood:	n/a	n/a
12	CHD1	chr19:21106057-21106479	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr19:21105828-21106276	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr19:21105781-21106264	GM12878	blood:	n/a	n/a
15	CTCF	chr19:21106280-21106430	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
16	CTCF	chr19:21106340-21106490	HCPEpiC	choroid plexus:	n/a	chr19:21106358-21106379
17	CTCF	chr19:21105896-21105903	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr19:21106320-21106470	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
19	CTCF	chr19:21140523-21140583	GM20000	blood:	n/a	n/a
20	CTCF	chr19:21106401-21106438	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:21106340-21106490	SK-N-SH_RA	brain:	n/a	chr19:21106358-21106379
22	CTCF	chr19:21106360-21106483	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:21106415-21106479	GM12891	blood:	n/a	n/a
24	CTCF	chr19:21106340-21106490	AG04449	skin:	n/a	chr19:21106358-21106379
25	CTCF	chr19:21106412-21106467	ProgFib	skin:	n/a	n/a
26	CTCF	chr19:21106100-21106250	AG04449	skin:	n/a	chr19:21106150-21106158
27	CTCF	chr19:21105371-21105401	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
29	CTCF	chr19:21061680-21061830	GM12866	blood:	n/a	n/a
30	CTCF	chr19:21106360-21106510	AG09309	skin:	n/a	n/a
31	CTCF	chr19:21106395-21106477	Fibrobl	skin:	n/a	n/a
32	CTCF	chr19:21106300-21106450	HBMEC	blood vessel:	n/a	chr19:21106358-21106379
33	CTCF	chr19:21106320-21106470	GM12864	blood:	n/a	chr19:21106358-21106379
34	CTCF	chr19:21124105-21124181	GM10266	blood:	n/a	n/a
35	CTCF	chr19:21106349-21106549	GM12878	blood:	n/a	chr19:21106358-21106379
36	CTCF	chr19:21105907-21106029	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
38	CTCF	chr19:21106220-21106370	HRE	kidney:	n/a	n/a
39	CTCF	chr19:21106320-21106470	HVMF	connective:	n/a	chr19:21106358-21106379
40	CTCF	chr19:21105876-21105885	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr19:21106380-21106530	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr19:21106360-21106510	NHEK	skin:	n/a	n/a
43	CTCF	chr19:21106320-21106470	AoAF	blood vessel:	n/a	chr19:21106358-21106379
44	CTCF	chr19:21114614-21114657	Lung_OC	lung:	n/a	n/a
45	CTCF	chr19:21106320-21106470	AG09319	gingival:	n/a	chr19:21106358-21106379
46	E2F4	chr19:21110685-21110744	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr19:21105846-21106264	GM12878	blood:	n/a	n/a
48	E2F4	chr19:21105572-21106360	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr19:21107119-21107399	GM12878	blood:	n/a	n/a
50	EBF1	chr19:21105731-21106021	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21106370-21106420	HL-60	blood:	n/a
2	chr19:21106036-21106086	HRE	kidney:	n/a
3	chr19:21106053-21106103	PFSK-1	brain:	n/a
4	chr19:21106036-21106086	CMK	blood:	n/a
5	chr19:21106016-21106066	GM06990	blood:	n/a
6	chr19:21106016-21106066	IMR90	lung:	fetal
7	chr19:21106053-21106103	GM12892	blood:	n/a
8	chr19:21105452-21105502	PANC-1	pancreas:	n/a
9	chr19:21106053-21106103	ovcar-3	ovarian:	n/a
10	chr19:21106027-21106077	PANC-1	pancreas:	n/a
11	chr19:21106370-21106420	SAEC	small airway:	n/a
12	chr19:21106002-21106052	SK-N-MC	brain:	n/a
13	chr19:21106027-21106077	HEEpiC	esophagus:	n/a
14	chr19:21106016-21106066	H1-hESC	embryonic stem cell:	embryo
15	chr19:21106370-21106420	HepG2	liver:	n/a
16	chr19:21105303-21105353	HAEpiC	amniotic membrane:	n/a
17	chr19:21106036-21106086	ECC-1	luminal epithelium:	n/a
18	chr19:21106016-21106066	Caco-2	colon:	n/a
19	chr19:21106002-21106052	GM12892	blood:	n/a
20	chr19:21106036-21106086	NH-A	brain:	n/a
21	chr19:21106043-21106093	HUVEC	blood vessel:	n/a
22	chr19:21106002-21106052	HepG2	liver:	n/a
23	chr19:21106043-21106093	HL-60	blood:	n/a
24	chr19:21106027-21106077	PrEC	prostate:	n/a
25	chr19:21106043-21106093	HRE	kidney:	n/a
26	chr19:21106027-21106077	BJ	skin:	n/a
27	chr19:21106370-21106420	GM12878	blood:	n/a
28	chr19:21106120-21106170	AG04450	lung:	fetal
29	chr19:21106036-21106086	NT2-D1	testis:	n/a
30	chr19:21106027-21106077	T-47D	breast:	n/a
31	chr19:21106370-21106420	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:21106036-21106086	A549	lung:	n/a
33	chr19:21106370-21106420	K562	blood:	n/a
34	chr19:21105452-21105502	HCF	heart:	n/a
35	chr19:21106036-21106086	H1-hESC	embryonic stem cell:	embryo
36	chr19:21106120-21106170	HNPCEpiC	eye:	n/a
37	chr19:21106016-21106066	HCPEpiC	choroid plexus:	n/a
38	chr19:21106027-21106077	SAEC	small airway:	n/a
39	chr19:21106120-21106170	ECC-1	luminal epithelium:	n/a
40	chr19:21106370-21106420	HCM	heart:	n/a
41	chr19:21105303-21105353	CMK	blood:	n/a
42	chr19:21106036-21106086	HEK293	kidney:	embryo
43	chr19:21106016-21106066	NB4	blood:	n/a
44	chr19:21105303-21105353	MCF10A-Er-Src	breast:	n/a
45	chr19:21106053-21106103	NHBE	bronchial:	n/a
46	chr19:21106002-21106052	HIPEpiC	eye:	n/a
47	chr19:21106027-21106077	NHBE	bronchial:	n/a
48	chr19:21106002-21106052	PrEC	prostate:	n/a
49	chr19:21106016-21106066	GM12878	blood:	n/a
50	chr19:21106370-21106420	A549	lung:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21124387..21126595-chr19:21129898..21132890,2	MCF-7	breast:
2	chr19:21097861..21100856-chr19:21103633..21106940,3	MCF-7	breast:
3	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:
4	chr19:21124387..21126595-chr19:21129898..21132890,2	MCF-7	breast:
5	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF85-4	chr19:21116830-21116956	NR_045830
2	lnc-ZNF85-4	chr19:21106059-21106222	NR_045830
3	lnc-ZNF85-4	chr19:21117755-21117853	NR_045830
4	lnc-ZNF85-4	chr19:21125607-21126783	NR_045830

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF85	hsa-miR-26b-5p	chr19:21126672-21126693

Variant related genes	Relation type
ZNF85	TF binding region
KRT18P40	TF binding region
ZNF85	CpG island
KRT18P40	CpG island
ENSG00000105750	chromatin interactions

Extended variants
information (count: 3675 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3675 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17679966	chr19:21053665-21053666	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566293276	chr19:21053820-21053821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535092897	chr19:21053845-21053846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555128219	chr19:21053867-21053868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142644632	chr19:21053879-21053880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537492452	chr19:21053893-21053894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549990027	chr19:21053904-21053905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556970049	chr19:21053917-21053918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186843217	chr19:21053924-21053925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569733983	chr19:21053937-21053938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538462337	chr19:21053946-21053947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577018420	chr19:21053954-21053955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545700732	chr19:21053955-21053956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559096594	chr19:21053956-21053957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190887680	chr19:21053977-21053978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541510957	chr19:21053981-21053982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561864019	chr19:21053991-21053992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs151015284	chr19:21054005-21054006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550503411	chr19:21054035-21054036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183396178	chr19:21054054-21054055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532821254	chr19:21054118-21054119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552924176	chr19:21054131-21054132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558445967	chr19:21054141-21054142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62123199	chr19:21054155-21054156	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs372930511	chr19:21054156-21054157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548691416	chr19:21054223-21054224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62123200	chr19:21054227-21054228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140810350	chr19:21054238-21054239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62123201	chr19:21054276-21054277	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs373315240	chr19:21054305-21054306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577181987	chr19:21054306-21054307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557829214	chr19:21054314-21054315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577759849	chr19:21054317-21054318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377505588	chr19:21054321-21054322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572694993	chr19:21054324-21054325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62123202	chr19:21054325-21054326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs561737944	chr19:21054335-21054336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186604291	chr19:21054344-21054345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543988750	chr19:21054380-21054381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114138395	chr19:21054383-21054384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114581441	chr19:21054406-21054407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552887195	chr19:21054429-21054430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560129923	chr19:21054450-21054451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533890046	chr19:21054455-21054456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528693687	chr19:21054472-21054473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115160882	chr19:21054473-21054474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs17679977	chr19:21054492-21054493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs17618068	chr19:21054497-21054498	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs150148887	chr19:21054517-21054518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576733367	chr19:21054587-21054588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
7	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:21085800-21086200	ZNF genes & repeats	Pancreas	Pancrea
14	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
15	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
17	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
18	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
19	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
20	chr19:21090400-21091000	Active TSS	Fetal Heart	heart
21	chr19:21091800-21094000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr19:21093600-21097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:21103400-21106000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:21105000-21105200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:21105000-21105200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:21105000-21105400	Enhancers	HepG2	liver
27	chr19:21105000-21105600	Enhancers	Dnd41	blood
28	chr19:21105200-21105400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr19:21105200-21105400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:21105200-21105400	Enhancers	Esophagus	oesophagus
31	chr19:21105200-21105600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:21105200-21105600	Enhancers	Primary B cells from cord blood	blood
33	chr19:21105200-21105600	Enhancers	Primary hematopoietic stem cells	blood
34	chr19:21105200-21105600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:21105200-21105600	Enhancers	Pancreas	Pancrea
36	chr19:21105200-21105800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:21105200-21105800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr19:21105200-21105800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:21105200-21105800	Enhancers	Fetal Muscle Leg	muscle
40	chr19:21105200-21105800	Enhancers	Right Atrium	heart
41	chr19:21105200-21106000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr19:21105200-21106000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:21105200-21106600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr19:21105400-21105600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr19:21105400-21105600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr19:21105400-21105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:21105400-21105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:21105400-21105600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr19:21105400-21105800	Enhancers	Primary T cells from cord blood	blood
50	chr19:21105400-21105800	Enhancers	Primary T helper cells PMA-I stimulated	--

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