Variant report

Variant	nsv522090
Chromosome Location	chr19:21041350-21109784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:611)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 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	CHD1	chr19:21106057-21106479	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr19:21106153-21106576	GM12878	blood:	n/a	n/a
8	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr19:21105828-21106276	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr19:21105781-21106264	GM12878	blood:	n/a	n/a
11	CTCF	chr19:21106320-21106470	HVMF	connective:	n/a	chr19:21106358-21106379
12	CTCF	chr19:21106320-21106470	GM12864	blood:	n/a	chr19:21106358-21106379
13	CTCF	chr19:21106340-21106490	AG04449	skin:	n/a	chr19:21106358-21106379
14	CTCF	chr19:21106280-21106430	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
15	CTCF	chr19:21106320-21106470	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
16	CTCF	chr19:21106380-21106530	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr19:21105896-21105903	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr19:21105371-21105401	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:21106320-21106470	AoAF	blood vessel:	n/a	chr19:21106358-21106379
20	CTCF	chr19:21049460-21049610	GM12868	blood:	n/a	n/a
21	CTCF	chr19:21106340-21106490	SK-N-SH_RA	brain:	n/a	chr19:21106358-21106379
22	CTCF	chr19:21106395-21106477	Fibrobl	skin:	n/a	n/a
23	CTCF	chr19:21105907-21106029	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr19:21044720-21044870	HepG2	liver:	n/a	n/a
25	CTCF	chr19:21106100-21106250	AG04449	skin:	n/a	chr19:21106150-21106158
26	CTCF	chr19:21106360-21106483	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:21052220-21052370	GM12866	blood:	n/a	n/a
28	CTCF	chr19:21106360-21106510	NHEK	skin:	n/a	n/a
29	CTCF	chr19:21106349-21106549	GM12878	blood:	n/a	chr19:21106358-21106379
30	CTCF	chr19:21106320-21106470	AG09319	gingival:	n/a	chr19:21106358-21106379
31	CTCF	chr19:21106412-21106467	ProgFib	skin:	n/a	n/a
32	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
33	CTCF	chr19:21106300-21106450	HBMEC	blood vessel:	n/a	chr19:21106358-21106379
34	CTCF	chr19:21106220-21106370	HRE	kidney:	n/a	n/a
35	CTCF	chr19:21061680-21061830	GM12866	blood:	n/a	n/a
36	CTCF	chr19:21106360-21106510	AG09309	skin:	n/a	n/a
37	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
38	CTCF	chr19:21106340-21106490	HCPEpiC	choroid plexus:	n/a	chr19:21106358-21106379
39	CTCF	chr19:21105876-21105885	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr19:21106401-21106438	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:21106415-21106479	GM12891	blood:	n/a	n/a
42	E2F4	chr19:21105846-21106264	GM12878	blood:	n/a	n/a
43	E2F4	chr19:21105572-21106360	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F6	chr19:21041471-21041940	H1-hESC	embryonic stem cell:	n/a	n/a
45	EBF1	chr19:21107119-21107399	GM12878	blood:	n/a	n/a
46	EBF1	chr19:21105731-21106021	GM12878	blood:	n/a	n/a
47	EGR1	chr19:21041677-21041986	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELF1	chr19:21105781-21106355	MCF-7	breast:	n/a	chr19:21106038-21106047 chr19:21106272-21106284 chr19:21106037-21106048
49	ELF1	chr19:21105809-21106241	HepG2	liver:	n/a	chr19:21106038-21106047 chr19:21106037-21106048
50	ELF1	chr19:21105748-21106196	GM12878	blood:	n/a	chr19:21106038-21106047 chr19:21106037-21106048

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21106053-21106103	AG04449	skin:	fetal
2	chr19:21106053-21106103	AG04449	skin:	fetal
3	chr19:21106370-21106420	AG04449	skin:	fetal
4	chr19:21106370-21106420	GM12878	blood:	n/a
5	chr19:21105452-21105502	SK-N-SH	brain:	n/a
6	chr19:21106370-21106420	HCT-116	colon:	n/a
7	chr19:21106002-21106052	CMK	blood:	n/a
8	chr19:21106002-21106052	GM12878	blood:	n/a
9	chr19:21106370-21106420	Hela-S3	cervix:	n/a
10	chr19:21106120-21106170	ovcar-3	ovarian:	n/a
11	chr19:21106043-21106093	BJ	skin:	n/a
12	chr19:21106002-21106052	AG04449	skin:	fetal
13	chr19:21106002-21106052	MCF10A-Er-Src	breast:	n/a
14	chr19:21106002-21106052	AG10803	skin:	n/a
15	chr19:21106370-21106420	HNPCEpiC	eye:	n/a
16	chr19:21106120-21106170	NHDF-neo	bronchial:	n/a
17	chr19:21105303-21105353	HCT-116	colon:	n/a
18	chr19:21105452-21105502	Caco-2	colon:	n/a
19	chr19:21106036-21106086	Hepatocyte	liver:	n/a
20	chr19:21106002-21106052	HRPEpiC	eye:	n/a
21	chr19:21106027-21106077	HAEpiC	amniotic membrane:	n/a
22	chr19:21105303-21105353	AoSMC	blood vessel:	n/a
23	chr19:21106043-21106093	H1-hESC	embryonic stem cell:	embryo
24	chr19:21106370-21106420	SAEC	small airway:	n/a
25	chr19:21105303-21105353	HMEC	breast:	n/a
26	chr19:21106120-21106170	GM12891	blood:	n/a
27	chr19:21106053-21106103	SAEC	small airway:	n/a
28	chr19:21106043-21106093	AG09319	gingival:	n/a
29	chr19:21106053-21106103	HCPEpiC	choroid plexus:	n/a
30	chr19:21106370-21106420	HEK293	kidney:	embryo
31	chr19:21105303-21105353	RPTEC	kidney:	n/a
32	chr19:21106027-21106077	HRE	kidney:	n/a
33	chr19:21106016-21106066	BJ	skin:	n/a
34	chr19:21106120-21106170	T-47D	breast:	n/a
35	chr19:21106043-21106093	PFSK-1	brain:	n/a
36	chr19:21106053-21106103	NH-A	brain:	n/a
37	chr19:21106043-21106093	LNCaP	prostate:	n/a
38	chr19:21106120-21106170	AG10803	skin:	n/a
39	chr19:21106370-21106420	HMEC	breast:	n/a
40	chr19:21106016-21106066	AG04449	skin:	fetal
41	chr19:21106053-21106103	NHBE	bronchial:	n/a
42	chr19:21106016-21106066	HEEpiC	esophagus:	n/a
43	chr19:21106043-21106093	IMR90	lung:	fetal
44	chr19:21106002-21106052	GM06990	blood:	n/a
45	chr19:21106002-21106052	AG04450	lung:	fetal
46	chr19:21106370-21106420	HCM	heart:	n/a
47	chr19:21106036-21106086	HRE	kidney:	n/a
48	chr19:21106002-21106052	HUVEC	blood vessel:	n/a
49	chr19:21106370-21106420	SKMC	muscle:	n/a
50	chr19:21106043-21106093	HUVEC	blood vessel:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF85-4	chr19:21106059-21106222	NR_045830

No data

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

Extended variants
information (count: 2882 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2882 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2547134	chr19:21041350-21041351	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375798599	chr19:21041351-21041352	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76575736	chr19:21041403-21041404	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78442532	chr19:21041404-21041405	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368894386	chr19:21041412-21041413	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111372974	chr19:21041416-21041417	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs386807709	chr19:21041418-21041419	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75999567	chr19:21041421-21041422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76612148	chr19:21041422-21041423	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147817891	chr19:21041425-21041426	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10414291	chr19:21041431-21041432	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138925058	chr19:21041444-21041445	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78758197	chr19:21041453-21041454	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76759677	chr19:21041457-21041458	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2545223	chr19:21041460-21041461	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77595209	chr19:21041461-21041462	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77069338	chr19:21041462-21041463	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76379829	chr19:21041464-21041465	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76578933	chr19:21041467-21041468	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569775486	chr19:21041471-21041472	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117218843	chr19:21041480-21041481	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559209851	chr19:21041482-21041483	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546945085	chr19:21041492-21041493	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs10412748	chr19:21041497-21041498	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79483830	chr19:21041507-21041508	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371998166	chr19:21041511-21041512	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552354769	chr19:21041525-21041526	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2545224	chr19:21041540-21041541	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186164168	chr19:21041554-21041555	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534623326	chr19:21041601-21041602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569002726	chr19:21041645-21041646	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2547133	chr19:21041663-21041664	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141366400	chr19:21041672-21041673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561546996	chr19:21041729-21041730	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551465857	chr19:21041733-21041734	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148442554	chr19:21041741-21041742	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536689402	chr19:21041744-21041745	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556278786	chr19:21041745-21041746	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191040447	chr19:21041761-21041762	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553759021	chr19:21041775-21041776	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114620407	chr19:21041783-21041784	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182555256	chr19:21041811-21041812	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187214149	chr19:21041846-21041847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556353282	chr19:21041906-21041907	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192284748	chr19:21041907-21041908	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13346227	chr19:21041908-21041909	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141745003	chr19:21041910-21041911	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373297275	chr19:21041911-21041912	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376623781	chr19:21041924-21041925	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs34828060	chr19:21041929-21041930	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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

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