Variant report

Variant	nsv911447
Chromosome Location	chr19:22537862-22665616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:22642573-22642702	GM12878	blood:	n/a	n/a
2	BACH1	chr19:22647599-22647613	K562	blood:	n/a	n/a
3	BATF	chr19:22544504-22544653	GM12878	blood:	n/a	n/a
4	CEBPB	chr19:22656604-22656769	K562	blood:	n/a	chr19:22656662-22656675
5	CEBPB	chr19:22620851-22621195	A549	lung:	n/a	chr19:22621023-22621034
6	CEBPB	chr19:22620843-22621200	HepG2	liver:	n/a	chr19:22621023-22621034
7	CEBPB	chr19:22620862-22621188	IMR90	lung:	n/a	chr19:22621023-22621034
8	CEBPB	chr19:22656675-22656758	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:22655610-22655740	A549	lung:	n/a	chr19:22655662-22655673 chr19:22655661-22655674
10	CEBPB	chr19:22641449-22641612	A549	lung:	n/a	chr19:22641539-22641550
11	CEBPB	chr19:22620916-22621213	K562	blood:	n/a	chr19:22621023-22621034
12	CEBPB	chr19:22641462-22641588	HepG2	liver:	n/a	chr19:22641539-22641550
13	CEBPB	chr19:22655626-22655826	HepG2	liver:	n/a	chr19:22655662-22655673 chr19:22655661-22655674
14	CEBPB	chr19:22620961-22621192	Hela-S3	cervix:	n/a	chr19:22621023-22621034
15	CTCF	chr19:22606668-22606719	GM10248	blood:	n/a	n/a
16	CTCF	chr19:22611007-22611143	Pancreas_OC	pancreas:	n/a	chr19:22611009-22611022
17	CTCF	chr19:22569844-22569869	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:22582951-22583033	GM13976	blood:	n/a	n/a
19	CTCF	chr19:22616480-22616630	SAEC	small airway:	n/a	n/a
20	CTCF	chr19:22610980-22611130	WERI-Rb-1	eye:	n/a	chr19:22611009-22611022 chr19:22611006-22611019
21	CTCF	chr19:22590043-22590079	GM20000	blood:	n/a	n/a
22	CTCF	chr19:22637352-22637425	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:22649327-22649404	GM20000	blood:	n/a	n/a
24	CTCF	chr19:22652580-22652730	GM12867	blood:	n/a	n/a
25	CTCF	chr19:22640425-22640450	GM13976	blood:	n/a	n/a
26	CTCF	chr19:22591829-22591919	GM10248	blood:	n/a	n/a
27	CTCF	chr19:22616941-22617027	GM13976	blood:	n/a	n/a
28	CTCF	chr19:22581742-22581801	GM13976	blood:	n/a	n/a
29	CTCF	chr19:22567920-22567967	GM13976	blood:	n/a	n/a
30	CTCF	chr19:22584833-22584906	LNCaP	prostate:	n/a	n/a
31	CTCF	chr19:22569658-22569731	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr19:22564197-22564325	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr19:22631575-22631622	ProgFib	skin:	n/a	n/a
34	CTCF	chr19:22604868-22604883	GM13976	blood:	n/a	n/a
35	EP300	chr19:22646883-22646898	GM12878	blood:	n/a	n/a
36	GABPA	chr19:22604767-22605489	MCF-7	breast:	n/a	n/a
37	GABPA	chr19:22605006-22605453	MCF-7	breast:	n/a	n/a
38	GATA3	chr19:22655047-22655188	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr19:22654677-22655488	A549	lung:	n/a	n/a
40	GATA3	chr19:22642150-22642345	SH-SY5Y	brain:	n/a	n/a
41	HEY1	chr19:22604976-22605104	HepG2	liver:	n/a	n/a
42	HEY1	chr19:22604960-22605138	HepG2	liver:	n/a	n/a
43	HEY1	chr19:22604965-22605184	K562	blood:	n/a	n/a
44	HEY1	chr19:22604963-22605134	K562	blood:	n/a	n/a
45	IRF1	chr19:22627094-22627148	K562	blood:	n/a	n/a
46	KAP1	chr19:22654749-22655383	U2OS	brain:	n/a	n/a
47	KAP1	chr19:22653690-22655664	K562	blood:	n/a	n/a
48	KAP1	chr19:22654497-22655514	HEK293	kidney:	n/a	n/a
49	MAFF	chr19:22620607-22620816	HepG2	liver:	n/a	n/a
50	MAFF	chr19:22629525-22629725	K562	blood:	n/a	chr19:22629597-22629615

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22605186-22605236	AG09309	skin:	n/a
2	chr19:22605789-22605839	HIPEpiC	eye:	n/a
3	chr19:22605151-22605201	Jurkat	blood:	n/a
4	chr19:22605789-22605839	HMEC	breast:	n/a
5	chr19:22605789-22605839	HCPEpiC	choroid plexus:	n/a
6	chr19:22605789-22605839	HUVEC	blood vessel:	n/a
7	chr19:22605151-22605201	GM12892	blood:	n/a
8	chr19:22605151-22605201	Hela-S3	cervix:	n/a
9	chr19:22606486-22606536	HCT-116	colon:	n/a
10	chr19:22604979-22605029	SK-N-MC	brain:	n/a
11	chr19:22606486-22606536	HCM	heart:	n/a
12	chr19:22605234-22605284	ProgFib	skin:	n/a
13	chr19:22606486-22606536	ProgFib	skin:	n/a
14	chr19:22605188-22605238	Hela-S3	cervix:	n/a
15	chr19:22605234-22605284	HIPEpiC	eye:	n/a
16	chr19:22605234-22605284	HEEpiC	esophagus:	n/a
17	chr19:22605789-22605839	ovcar-3	ovarian:	n/a
18	chr19:22605188-22605238	SK-N-SH_RA	brain:	n/a
19	chr19:22606486-22606536	ovcar-3	ovarian:	n/a
20	chr19:22605188-22605238	GM12878	blood:	n/a
21	chr19:22605188-22605238	NH-A	brain:	n/a
22	chr19:22606486-22606536	AG04450	lung:	fetal
23	chr19:22605234-22605284	NT2-D1	testis:	n/a
24	chr19:22605188-22605238	HRCEpiC	kidney:	n/a
25	chr19:22605789-22605839	MCF-7	breast:	n/a
26	chr19:22605188-22605238	PrEC	prostate:	n/a
27	chr19:22606486-22606536	HEEpiC	esophagus:	n/a
28	chr19:22605188-22605238	HL-60	blood:	n/a
29	chr19:22605186-22605236	ProgFib	skin:	n/a
30	chr19:22604979-22605029	SAEC	small airway:	n/a
31	chr19:22606486-22606536	AG10803	skin:	n/a
32	chr19:22605234-22605284	HEK293	kidney:	embryo
33	chr19:22605188-22605238	AoSMC	blood vessel:	n/a
34	chr19:22605186-22605236	HRCEpiC	kidney:	n/a
35	chr19:22605234-22605284	Hela-S3	cervix:	n/a
36	chr19:22606486-22606536	NB4	blood:	n/a
37	chr19:22606486-22606536	BE2_C	brain:	n/a
38	chr19:22605151-22605201	SAEC	small airway:	n/a
39	chr19:22604979-22605029	MCF10A-Er-Src	breast:	n/a
40	chr19:22605234-22605284	GM12891	blood:	n/a
41	chr19:22605234-22605284	H1-hESC	embryonic stem cell:	embryo
42	chr19:22605188-22605238	NT2-D1	testis:	n/a
43	chr19:22604979-22605029	HRE	kidney:	n/a
44	chr19:22605234-22605284	BE2_C	brain:	n/a
45	chr19:22605186-22605236	PrEC	prostate:	n/a
46	chr19:22605151-22605201	AG04450	lung:	fetal
47	chr19:22605186-22605236	HNPCEpiC	eye:	n/a
48	chr19:22604979-22605029	IMR90	lung:	fetal
49	chr19:22605234-22605284	LNCaP	prostate:	n/a
50	chr19:22605234-22605284	HNPCEpiC	eye:	n/a

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF98-5	chr19:22640608-22641014	NONHSAT063790
2	lnc-ZNF98-5	chr19:22640131-22640292	NONHSAT063790
3	lnc-ZNF98-4	chr19:22631148-22631579	NONHSAT063788
4	lnc-ZNF729-4	chr19:22545391-22545627	NONHSAT063784
5	lnc-ZNF98-4	chr19:22630736-22630857	NONHSAT063788
6	lnc-ZNF729-6	chr19:22638790-22639261	ENSG00000270947.1
7	lnc-ZNF98-9	chr19:22618464-22618808	NONHSAT063787
8	lnc-ZNF676-4	chr19:22598499-22598613	ucscGeneNc_uc002nqv_2
9	lnc-ZNF676-4	chr19:22590201-22591195	ucscGeneNc_uc002nqv_2

No data

Variant related genes	Relation type
ZNF209P	TF binding region
ENSG00000268830	TF binding region
RPL34P34	TF binding region
ENSG00000270947	TF binding region
ENSG00000268685	TF binding region
ENSG00000269796	TF binding region
ZNF98	TF binding region
ENSG00000268717	TF binding region
ZNF209P	CpG island
ENSG00000268830	CpG island
RPL34P34	CpG island
ENSG00000270947	CpG island
ENSG00000268685	CpG island
ENSG00000269796	CpG island
ZNF98	CpG island
ENSG00000268717	CpG island

Extended variants
information (count: 2106 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:2106 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7259586	chr19:22537862-22537863	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575776391	chr19:22537867-22537868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537146539	chr19:22537914-22537915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141101802	chr19:22537934-22537935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375242661	chr19:22537937-22537938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368575146	chr19:22544578-22544579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542855533	chr19:22544590-22544591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561321778	chr19:22544595-22544596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573311742	chr19:22544629-22544630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570576824	chr19:22545401-22545402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117584733	chr19:22545444-22545445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs539077237	chr19:22545448-22545449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs113176625	chr19:22545460-22545461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs148666518	chr19:22545471-22545472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373980608	chr19:22545527-22545528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558962006	chr19:22545539-22545540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs577288198	chr19:22545563-22545564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142141096	chr19:22545611-22545612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189250544	chr19:22553201-22553202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540161780	chr19:22553212-22553213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs146624571	chr19:22553225-22553226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540155985	chr19:22553266-22553267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs193060453	chr19:22553273-22553274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529980913	chr19:22553276-22553277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548345355	chr19:22553296-22553297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1865075	chr19:22554854-22554855	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
27	rs564047570	chr19:22554856-22554857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141217254	chr19:22554858-22554859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543626144	chr19:22554916-22554917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1865074	chr19:22554949-22554950	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs573496329	chr19:22554978-22554979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs1865073	chr19:22554980-22554981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs10407664	chr19:22554991-22554992	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190239089	chr19:22555024-22555025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533660208	chr19:22555075-22555076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200292729	chr19:22555105-22555106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs59350902	chr19:22555119-22555120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377225108	chr19:22555150-22555151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562196295	chr19:22555176-22555177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117338962	chr19:22555208-22555209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371078105	chr19:22555253-22555254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs369769273	chr19:22555255-22555256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183782422	chr19:22555271-22555272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568040340	chr19:22555322-22555323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535583970	chr19:22555336-22555337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551056850	chr19:22555405-22555406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564284100	chr19:22555420-22555421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553341725	chr19:22555494-22555495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537801407	chr19:22555525-22555526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571665523	chr19:22555567-22555568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22537600-22538000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:22554800-22555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:22572600-22573000	Weak transcription	Pancreas	Pancrea
4	chr19:22573000-22573400	ZNF genes & repeats	Pancreas	Pancrea
5	chr19:22573400-22577400	Weak transcription	Pancreas	Pancrea
6	chr19:22577400-22577600	ZNF genes & repeats	Pancreas	Pancrea
7	chr19:22577600-22577800	Weak transcription	Pancreas	Pancrea
8	chr19:22579600-22582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:22582600-22583000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:22582800-22583200	ZNF genes & repeats	Ovary	ovary
11	chr19:22583200-22588600	Weak transcription	Ovary	ovary
12	chr19:22588600-22589000	ZNF genes & repeats	Ovary	ovary
13	chr19:22590400-22590600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:22590600-22590800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:22595800-22604400	Weak transcription	Ovary	ovary
16	chr19:22599400-22600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:22602600-22604400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:22604200-22605400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:22604200-22605400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr19:22604200-22605400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:22604200-22605600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:22604200-22609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:22604400-22604600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr19:22604400-22604800	Active TSS	Fetal Heart	heart
25	chr19:22604400-22605000	ZNF genes & repeats	Liver	Liver
26	chr19:22604400-22605200	Active TSS	Colon Smooth Muscle	Colon
27	chr19:22604400-22605200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:22604400-22605200	Active TSS	Stomach Smooth Muscle	stomach
29	chr19:22604400-22605400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:22604400-22605400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr19:22604400-22605400	Active TSS	Brain Cingulate Gyrus	brain
32	chr19:22604400-22605400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr19:22604400-22605400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:22604400-22605400	Active TSS	Fetal Kidney	kidney
35	chr19:22604400-22605400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:22604400-22605400	ZNF genes & repeats	Ovary	ovary
37	chr19:22604400-22605400	ZNF genes & repeats	Right Atrium	heart
38	chr19:22604400-22605600	Active TSS	Right Ventricle	heart
39	chr19:22604400-22605800	ZNF genes & repeats	Fetal Stomach	stomach
40	chr19:22604400-22611600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:22604600-22605000	Active TSS	Primary B cells from cord blood	blood
42	chr19:22604600-22605200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr19:22604600-22605200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:22604600-22605200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr19:22604600-22605200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:22604600-22605200	ZNF genes & repeats	Aorta	Aorta
47	chr19:22604600-22605200	Active TSS	Brain Angular Gyrus	brain
48	chr19:22604600-22605200	Active TSS	Brain Substantia Nigra	brain
49	chr19:22604600-22605200	ZNF genes & repeats	Colonic Mucosa	Colon
50	chr19:22604600-22605200	ZNF genes & repeats	Esophagus	oesophagus

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