Variant report

Variant	nsv1058430
Chromosome Location	chr19:21063759-21114796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

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	chr19:21111223-21111588	IMR90	lung:	n/a	n/a
7	CEBPB	chr19:21113225-21113528	IMR90	lung:	n/a	chr19:21113372-21113383
8	CEBPB	chr19:21113313-21113547	A549	lung:	n/a	chr19:21113372-21113383
9	CEBPB	chr19:21113246-21113536	HepG2	liver:	n/a	chr19:21113372-21113383
10	CHD1	chr19:21106153-21106576	GM12878	blood:	n/a	n/a
11	CHD1	chr19:21106057-21106479	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr19:21105781-21106264	GM12878	blood:	n/a	n/a
13	CHD2	chr19:21105828-21106276	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:21106349-21106549	GM12878	blood:	n/a	chr19:21106358-21106379
15	CTCF	chr19:21106340-21106490	AG04449	skin:	n/a	chr19:21106358-21106379
16	CTCF	chr19:21106220-21106370	HRE	kidney:	n/a	n/a
17	CTCF	chr19:21106340-21106490	HCPEpiC	choroid plexus:	n/a	chr19:21106358-21106379
18	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
19	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
20	CTCF	chr19:21106340-21106490	SK-N-SH_RA	brain:	n/a	chr19:21106358-21106379
21	CTCF	chr19:21106380-21106530	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr19:21106300-21106450	HBMEC	blood vessel:	n/a	chr19:21106358-21106379
23	CTCF	chr19:21106100-21106250	AG04449	skin:	n/a	chr19:21106150-21106158
24	CTCF	chr19:21106415-21106479	GM12891	blood:	n/a	n/a
25	CTCF	chr19:21106395-21106477	Fibrobl	skin:	n/a	n/a
26	CTCF	chr19:21106320-21106470	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
27	CTCF	chr19:21114614-21114657	Lung_OC	lung:	n/a	n/a
28	CTCF	chr19:21105907-21106029	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr19:21106320-21106470	AoAF	blood vessel:	n/a	chr19:21106358-21106379
30	CTCF	chr19:21106401-21106438	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:21106412-21106467	ProgFib	skin:	n/a	n/a
32	CTCF	chr19:21106320-21106470	AG09319	gingival:	n/a	chr19:21106358-21106379
33	CTCF	chr19:21105876-21105885	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr19:21106360-21106510	AG09309	skin:	n/a	n/a
35	CTCF	chr19:21106280-21106430	NHDF-neo	bronchial:	n/a	chr19:21106358-21106379
36	CTCF	chr19:21106360-21106483	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:21105371-21105401	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:21106320-21106470	GM12864	blood:	n/a	chr19:21106358-21106379
39	CTCF	chr19:21106360-21106510	NHEK	skin:	n/a	n/a
40	CTCF	chr19:21105896-21105903	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr19:21106320-21106470	HVMF	connective:	n/a	chr19:21106358-21106379
42	E2F4	chr19:21105572-21106360	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr19:21110685-21110744	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr19:21105846-21106264	GM12878	blood:	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	ELF1	chr19:21105812-21106180	K562	blood:	n/a	chr19:21106038-21106047 chr19:21106037-21106048
48	ELF1	chr19:21105809-21106241	HepG2	liver:	n/a	chr19:21106038-21106047 chr19:21106037-21106048
49	ELF1	chr19:21105777-21106608	GM12878	blood:	n/a	chr19:21106038-21106047 chr19:21106272-21106284 chr19:21106037-21106048
50	ELF1	chr19:21105874-21106213	HepG2	liver:	n/a	chr19:21106038-21106047 chr19:21106037-21106048

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21106053-21106103	HNPCEpiC	eye:	n/a
2	chr19:21105303-21105353	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:21106043-21106093	MCF-7	breast:	n/a
4	chr19:21106002-21106052	AG09319	gingival:	n/a
5	chr19:21106027-21106077	HIPEpiC	eye:	n/a
6	chr19:21106043-21106093	AoSMC	blood vessel:	n/a
7	chr19:21106370-21106420	H1-hESC	embryonic stem cell:	embryo
8	chr19:21106016-21106066	SAEC	small airway:	n/a
9	chr19:21106027-21106077	HepG2	liver:	n/a
10	chr19:21105452-21105502	SK-N-SH_RA	brain:	n/a
11	chr19:21105452-21105502	NHDF-neo	bronchial:	n/a
12	chr19:21106002-21106052	AG09309	skin:	n/a
13	chr19:21105303-21105353	HEEpiC	esophagus:	n/a
14	chr19:21106120-21106170	HIPEpiC	eye:	n/a
15	chr19:21106027-21106077	Caco-2	colon:	n/a
16	chr19:21106120-21106170	PANC-1	pancreas:	n/a
17	chr19:21106027-21106077	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:21106036-21106086	HUVEC	blood vessel:	n/a
19	chr19:21106016-21106066	AG04449	skin:	fetal
20	chr19:21106027-21106077	HCT-116	colon:	n/a
21	chr19:21106370-21106420	Hela-S3	cervix:	n/a
22	chr19:21106043-21106093	GM19239	blood:	n/a
23	chr19:21106053-21106103	HepG2	liver:	n/a
24	chr19:21106016-21106066	SK-N-SH_RA	brain:	n/a
25	chr19:21106370-21106420	BJ	skin:	n/a
26	chr19:21106002-21106052	GM12891	blood:	n/a
27	chr19:21106036-21106086	A549	lung:	n/a
28	chr19:21106043-21106093	HCF	heart:	n/a
29	chr19:21106036-21106086	HepG2	liver:	n/a
30	chr19:21106027-21106077	SK-N-SH_RA	brain:	n/a
31	chr19:21106016-21106066	BE2_C	brain:	n/a
32	chr19:21106053-21106103	GM12891	blood:	n/a
33	chr19:21106036-21106086	AG04449	skin:	fetal
34	chr19:21106036-21106086	NH-A	brain:	n/a
35	chr19:21106043-21106093	PANC-1	pancreas:	n/a
36	chr19:21105452-21105502	AG04449	skin:	fetal
37	chr19:21106053-21106103	NHBE	bronchial:	n/a
38	chr19:21106120-21106170	AG04449	skin:	fetal
39	chr19:21106016-21106066	HCF	heart:	n/a
40	chr19:21106043-21106093	Hela-S3	cervix:	n/a
41	chr19:21106036-21106086	AoSMC	blood vessel:	n/a
42	chr19:21106043-21106093	HEEpiC	esophagus:	n/a
43	chr19:21105303-21105353	AoSMC	blood vessel:	n/a
44	chr19:21106370-21106420	HCT-116	colon:	n/a
45	chr19:21106120-21106170	MCF-7	breast:	n/a
46	chr19:21106027-21106077	MCF10A-Er-Src	breast:	n/a
47	chr19:21105303-21105353	SK-N-SH_RA	brain:	n/a
48	chr19:21106002-21106052	BJ	skin:	n/a
49	chr19:21106120-21106170	Caco-2	colon:	n/a
50	chr19:21106002-21106052	SK-N-MC	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:
2	chr19:21097861..21100856-chr19:21103633..21106940,3	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: 2095 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2095 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7256090	chr19:21063759-21063760	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143813721	chr19:21063764-21063765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539211790	chr19:21063778-21063779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553141296	chr19:21063832-21063833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572817398	chr19:21063847-21063848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62123218	chr19:21063852-21063853	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs114591298	chr19:21063890-21063891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs146460935	chr19:21063894-21063895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111779536	chr19:21063900-21063901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564021103	chr19:21063909-21063910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577466351	chr19:21063913-21063914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546263978	chr19:21063928-21063929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190973616	chr19:21063976-21063977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77822948	chr19:21064012-21064013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143690470	chr19:21064033-21064034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7256412	chr19:21064042-21064043	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs114774447	chr19:21064050-21064051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550458662	chr19:21064123-21064124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570614728	chr19:21064137-21064138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539736965	chr19:21064150-21064151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568428880	chr19:21064158-21064159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12978422	chr19:21064161-21064162	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566688272	chr19:21064188-21064189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550718368	chr19:21064234-21064235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564160388	chr19:21064239-21064240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535530307	chr19:21064241-21064242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73007028	chr19:21064248-21064249	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117116656	chr19:21064249-21064250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537797301	chr19:21064250-21064251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557793685	chr19:21064267-21064268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182502553	chr19:21064296-21064297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185615486	chr19:21064353-21064354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553267014	chr19:21064391-21064392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573418031	chr19:21064397-21064398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144146399	chr19:21064401-21064402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561893458	chr19:21064442-21064443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs116320896	chr19:21064476-21064477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544166521	chr19:21064484-21064485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530112495	chr19:21064532-21064533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533056433	chr19:21064536-21064537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533063042	chr19:21064537-21064538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548605392	chr19:21064587-21064588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546909874	chr19:21064604-21064605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75401112	chr19:21064605-21064606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148656633	chr19:21064610-21064611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141266726	chr19:21064637-21064638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568929893	chr19:21064670-21064671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs62123219	chr19:21064672-21064673	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs368812318	chr19:21064745-21064746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs150740800	chr19:21064760-21064761	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:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links