Variant report

Variant	nsv960809
Chromosome Location	chr19:21031718-21121801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:610)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	BATF	chr19:21032836-21033000	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
3	BATF	chr19:21032838-21032997	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
4	BCLAF1	chr19:21106064-21106734	GM12878	blood:	n/a	n/a
5	BHLHE40	chr19:21106054-21106146	GM12878	blood:	n/a	n/a
6	BRCA1	chr19:21106099-21106247	GM12878	blood:	n/a	n/a
7	CEBPB	chr19:21111223-21111588	IMR90	lung:	n/a	n/a
8	CEBPB	chr19:21106059-21106307	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr19:21113225-21113528	IMR90	lung:	n/a	chr19:21113372-21113383
10	CEBPB	chr19:21113313-21113547	A549	lung:	n/a	chr19:21113372-21113383
11	CEBPB	chr19:21113246-21113536	HepG2	liver:	n/a	chr19:21113372-21113383
12	CHD1	chr19:21106153-21106576	GM12878	blood:	n/a	n/a
13	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr19:21106057-21106479	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr19:21105781-21106264	GM12878	blood:	n/a	n/a
16	CHD2	chr19:21105828-21106276	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:21032872-21032964	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr19:21106349-21106549	GM12878	blood:	n/a	chr19:21106358-21106379
19	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
20	CTCF	chr19:21106340-21106490	SK-N-SH_RA	brain:	n/a	chr19:21106358-21106379
21	CTCF	chr19:21039315-21039388	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
23	CTCF	chr19:21049460-21049610	GM12868	blood:	n/a	n/a
24	CTCF	chr19:21106320-21106470	AoAF	blood vessel:	n/a	chr19:21106358-21106379
25	CTCF	chr19:21106320-21106470	AG09319	gingival:	n/a	chr19:21106358-21106379
26	CTCF	chr19:21105907-21106029	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr19:21106412-21106467	ProgFib	skin:	n/a	n/a
28	CTCF	chr19:21106320-21106470	HVMF	connective:	n/a	chr19:21106358-21106379
29	CTCF	chr19:21106380-21106530	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr19:21031926-21031979	GM13976	blood:	n/a	n/a
31	CTCF	chr19:21105876-21105885	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr19:21106220-21106370	HRE	kidney:	n/a	n/a
33	CTCF	chr19:21105896-21105903	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr19:21106320-21106470	GM12864	blood:	n/a	chr19:21106358-21106379
35	CTCF	chr19:21114614-21114657	Lung_OC	lung:	n/a	n/a
36	CTCF	chr19:21106401-21106438	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:21106320-21106470	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
38	CTCF	chr19:21106395-21106477	Fibrobl	skin:	n/a	n/a
39	CTCF	chr19:21105371-21105401	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:21044720-21044870	HepG2	liver:	n/a	n/a
41	CTCF	chr19:21106300-21106450	HBMEC	blood vessel:	n/a	chr19:21106358-21106379
42	CTCF	chr19:21106100-21106250	AG04449	skin:	n/a	chr19:21106150-21106158
43	CTCF	chr19:21106360-21106483	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:21106280-21106430	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
45	CTCF	chr19:21106360-21106510	NHEK	skin:	n/a	n/a
46	CTCF	chr19:21106340-21106490	HCPEpiC	choroid plexus:	n/a	chr19:21106358-21106379
47	CTCF	chr19:21032029-21032088	LNCaP	prostate:	n/a	n/a
48	CTCF	chr19:21106360-21106510	AG09309	skin:	n/a	n/a
49	CTCF	chr19:21106340-21106490	AG04449	skin:	n/a	chr19:21106358-21106379
50	CTCF	chr19:21106415-21106479	GM12891	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	chr19:21105452-21105502	HCM	heart:	n/a
2	chr19:21105452-21105502	HEEpiC	esophagus:	n/a
3	chr19:21106053-21106103	HMEC	breast:	n/a
4	chr19:21106036-21106086	A549	lung:	n/a
5	chr19:21106120-21106170	HCPEpiC	choroid plexus:	n/a
6	chr19:21106053-21106103	RPTEC	kidney:	n/a
7	chr19:21105452-21105502	NB4	blood:	n/a
8	chr19:21106036-21106086	MCF-7	breast:	n/a
9	chr19:21106027-21106077	Hepatocyte	liver:	n/a
10	chr19:21106016-21106066	Caco-2	colon:	n/a
11	chr19:21106043-21106093	GM06990	blood:	n/a
12	chr19:21106053-21106103	SAEC	small airway:	n/a
13	chr19:21105303-21105353	IMR90	lung:	fetal
14	chr19:21106053-21106103	HNPCEpiC	eye:	n/a
15	chr19:21106036-21106086	CMK	blood:	n/a
16	chr19:21105452-21105502	HCPEpiC	choroid plexus:	n/a
17	chr19:21106027-21106077	BE2_C	brain:	n/a
18	chr19:21105303-21105353	PFSK-1	brain:	n/a
19	chr19:21106036-21106086	H1-hESC	embryonic stem cell:	embryo
20	chr19:21105452-21105502	HNPCEpiC	eye:	n/a
21	chr19:21106370-21106420	AoSMC	blood vessel:	n/a
22	chr19:21106002-21106052	HL-60	blood:	n/a
23	chr19:21106002-21106052	SK-N-MC	brain:	n/a
24	chr19:21105303-21105353	NHDF-neo	bronchial:	n/a
25	chr19:21106043-21106093	HCT-116	colon:	n/a
26	chr19:21105303-21105353	SK-N-SH	brain:	n/a
27	chr19:21106043-21106093	NB4	blood:	n/a
28	chr19:21106016-21106066	AG04450	lung:	fetal
29	chr19:21106370-21106420	HIPEpiC	eye:	n/a
30	chr19:21106027-21106077	HL-60	blood:	n/a
31	chr19:21106053-21106103	Caco-2	colon:	n/a
32	chr19:21106002-21106052	MCF10A-Er-Src	breast:	n/a
33	chr19:21106043-21106093	MCF-7	breast:	n/a
34	chr19:21105452-21105502	ECC-1	luminal epithelium:	n/a
35	chr19:21106027-21106077	HIPEpiC	eye:	n/a
36	chr19:21106016-21106066	PFSK-1	brain:	n/a
37	chr19:21106036-21106086	HRE	kidney:	n/a
38	chr19:21106027-21106077	AG09309	skin:	n/a
39	chr19:21105452-21105502	SAEC	small airway:	n/a
40	chr19:21106016-21106066	HNPCEpiC	eye:	n/a
41	chr19:21106370-21106420	BJ	skin:	n/a
42	chr19:21106370-21106420	GM06990	blood:	n/a
43	chr19:21106002-21106052	AG09309	skin:	n/a
44	chr19:21106370-21106420	Hepatocyte	liver:	n/a
45	chr19:21106027-21106077	HUVEC	blood vessel:	n/a
46	chr19:21106370-21106420	HPAEpiC	pulmonary alveolar:	n/a
47	chr19:21106120-21106170	PrEC	prostate:	n/a
48	chr19:21106036-21106086	Hela-S3	cervix:	n/a
49	chr19:21106053-21106103	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:21106036-21106086	SK-N-SH	brain:	n/a

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

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

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000269373	TF binding region
ZNF85	TF binding region
ENSG00000269373	CpG island
ZNF85	CpG island
ENSG00000105750	chromatin interactions

Extended variants
information (count: 3533 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3533 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544151802	chr19:21031964-21031965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564040597	chr19:21031965-21031966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs386807704	chr19:21031969-21031970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2547151	chr19:21031970-21031971	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368518610	chr19:21031976-21031977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575748425	chr19:21032055-21032056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538078894	chr19:21032058-21032059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs137875368	chr19:21032061-21032062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2545199	chr19:21032897-21032898	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549838801	chr19:21032988-21032989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527862176	chr19:21033417-21033418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146944198	chr19:21033438-21033439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547610167	chr19:21033467-21033468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567416929	chr19:21033516-21033517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75180795	chr19:21033519-21033520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191775630	chr19:21035205-21035206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117031796	chr19:21035209-21035210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4026075	chr19:21035221-21035222	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146079802	chr19:21035236-21035237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2909792	chr19:21035248-21035249	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2545209	chr19:21035269-21035270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117641772	chr19:21035275-21035276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117799736	chr19:21035281-21035282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566809739	chr19:21035296-21035297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10402034	chr19:21035322-21035323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184016909	chr19:21035329-21035330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs35301331	chr19:21035356-21035357	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188034043	chr19:21035358-21035359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548603258	chr19:21035369-21035370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577332060	chr19:21035383-21035384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546452206	chr19:21035394-21035395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs386807706	chr19:21035406-21035407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2081053	chr19:21035407-21035408	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs146795975	chr19:21035413-21035414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574233111	chr19:21035449-21035450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148687238	chr19:21035450-21035451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537565847	chr19:21035460-21035461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142202495	chr19:21035495-21035496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557145549	chr19:21035525-21035526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs367760012	chr19:21035529-21035530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550821704	chr19:21035538-21035539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs151222215	chr19:21035540-21035541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182171391	chr19:21035556-21035557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4026073	chr19:21035570-21035571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs111535239	chr19:21035602-21035603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566228921	chr19:21035607-21035608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535213864	chr19:21035608-21035609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186860925	chr19:21035657-21035658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539679587	chr19:21035663-21035664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146993985	chr19:21035683-21035684	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21035200-21036000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
2	chr19:21040600-21040800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr19:21040800-21041200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr19:21040800-21042000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:21041200-21042000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr19:21042200-21042600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:21043200-21043400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:21043400-21045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:21044200-21044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr19:21045600-21046000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:21049800-21052800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:21052600-21052800	ZNF genes & repeats	Aorta	Aorta
15	chr19:21052600-21053200	Active TSS	Fetal Heart	heart
16	chr19:21052600-21053200	ZNF genes & repeats	Spleen	Spleen
17	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
20	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
21	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:21085800-21086200	ZNF genes & repeats	Pancreas	Pancrea
28	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
29	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
31	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
32	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
33	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
34	chr19:21090400-21091000	Active TSS	Fetal Heart	heart
35	chr19:21091800-21094000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:21093600-21097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:21103400-21106000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:21105000-21105200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:21105000-21105200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:21105000-21105400	Enhancers	HepG2	liver
41	chr19:21105000-21105600	Enhancers	Dnd41	blood
42	chr19:21105200-21105400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr19:21105200-21105400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:21105200-21105400	Enhancers	Esophagus	oesophagus
45	chr19:21105200-21105600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:21105200-21105600	Enhancers	Primary B cells from cord blood	blood
47	chr19:21105200-21105600	Enhancers	Primary hematopoietic stem cells	blood
48	chr19:21105200-21105600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr19:21105200-21105600	Enhancers	Pancreas	Pancrea
50	chr19:21105200-21105800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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