Variant report

Variant	nsv1064591
Chromosome Location	chr19:22533517-22624042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:22544504-22544653	GM12878	blood:	n/a	n/a
2	CEBPB	chr19:22620851-22621195	A549	lung:	n/a	chr19:22621023-22621034
3	CEBPB	chr19:22620862-22621188	IMR90	lung:	n/a	chr19:22621023-22621034
4	CEBPB	chr19:22620843-22621200	HepG2	liver:	n/a	chr19:22621023-22621034
5	CEBPB	chr19:22620961-22621192	Hela-S3	cervix:	n/a	chr19:22621023-22621034
6	CEBPB	chr19:22620916-22621213	K562	blood:	n/a	chr19:22621023-22621034
7	CTCF	chr19:22564197-22564325	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr19:22606668-22606719	GM10248	blood:	n/a	n/a
9	CTCF	chr19:22581742-22581801	GM13976	blood:	n/a	n/a
10	CTCF	chr19:22590043-22590079	GM20000	blood:	n/a	n/a
11	CTCF	chr19:22582951-22583033	GM13976	blood:	n/a	n/a
12	CTCF	chr19:22591829-22591919	GM10248	blood:	n/a	n/a
13	CTCF	chr19:22611007-22611143	Pancreas_OC	pancreas:	n/a	chr19:22611009-22611022
14	CTCF	chr19:22569844-22569869	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:22616480-22616630	SAEC	small airway:	n/a	n/a
16	CTCF	chr19:22610980-22611130	WERI-Rb-1	eye:	n/a	chr19:22611009-22611022 chr19:22611006-22611019
17	CTCF	chr19:22584833-22584906	LNCaP	prostate:	n/a	n/a
18	CTCF	chr19:22604868-22604883	GM13976	blood:	n/a	n/a
19	CTCF	chr19:22567920-22567967	GM13976	blood:	n/a	n/a
20	CTCF	chr19:22569658-22569731	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr19:22616941-22617027	GM13976	blood:	n/a	n/a
22	GABPA	chr19:22605006-22605453	MCF-7	breast:	n/a	n/a
23	GABPA	chr19:22604767-22605489	MCF-7	breast:	n/a	n/a
24	HEY1	chr19:22604965-22605184	K562	blood:	n/a	n/a
25	HEY1	chr19:22604963-22605134	K562	blood:	n/a	n/a
26	HEY1	chr19:22604960-22605138	HepG2	liver:	n/a	n/a
27	HEY1	chr19:22604976-22605104	HepG2	liver:	n/a	n/a
28	MAFF	chr19:22547331-22547634	HepG2	liver:	n/a	chr19:22547482-22547500
29	MAFF	chr19:22547400-22547600	K562	blood:	n/a	chr19:22547482-22547500
30	MAFF	chr19:22620607-22620816	HepG2	liver:	n/a	n/a
31	MAFK	chr19:22556479-22556577	HepG2	liver:	n/a	n/a
32	MAFK	chr19:22547422-22547497	Hela-S3	cervix:	n/a	n/a
33	MAFK	chr19:22547333-22547634	IMR90	lung:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
34	MAFK	chr19:22547348-22547588	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
35	MAFK	chr19:22617723-22618020	HepG2	liver:	n/a	n/a
36	MAFK	chr19:22557327-22557422	HepG2	liver:	n/a	chr19:22557352-22557363 chr19:22557352-22557363 chr19:22557351-22557362 chr19:22557351-22557362
37	MAFK	chr19:22547319-22547673	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
38	MAFK	chr19:22620605-22620868	HepG2	liver:	n/a	n/a
39	MXI1	chr19:22557638-22557654	GM12878	blood:	n/a	n/a
40	MYC	chr19:22583545-22583728	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:22550255-22550455	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr19:22553176-22553349	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr19:22567726-22567880	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:22581258-22581280	A549	lung:	n/a	n/a
45	POLR2A	chr19:22537641-22537665	A549	lung:	n/a	n/a
46	POLR2A	chr19:22604832-22605155	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:22577784-22577903	A549	lung:	n/a	n/a
48	POLR2A	chr19:22604825-22605178	GM12892	blood:	n/a	n/a
49	POLR2A	chr19:22604969-22605133	GM12891	blood:	n/a	n/a
50	POLR2A	chr19:22604864-22605046	MCF-7	breast:	n/a	n/a

(count:428 , 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	AG09319	gingival:	n/a
2	chr19:22605186-22605236	AG09319	gingival:	n/a
3	chr19:22605234-22605284	AG04450	lung:	fetal
4	chr19:22605188-22605238	AG10803	skin:	n/a
5	chr19:22605234-22605284	AG09309	skin:	n/a
6	chr19:22606486-22606536	LNCaP	prostate:	n/a
7	chr19:22605234-22605284	AG04449	skin:	fetal
8	chr19:22606486-22606536	HepG2	liver:	n/a
9	chr19:22605186-22605236	T-47D	breast:	n/a
10	chr19:22605188-22605238	LNCaP	prostate:	n/a
11	chr19:22605151-22605201	SAEC	small airway:	n/a
12	chr19:22606486-22606536	AG10803	skin:	n/a
13	chr19:22605789-22605839	Caco-2	colon:	n/a
14	chr19:22605188-22605238	ovcar-3	ovarian:	n/a
15	chr19:22605186-22605236	AoSMC	blood vessel:	n/a
16	chr19:22605188-22605238	T-47D	breast:	n/a
17	chr19:22605188-22605238	HEK293	kidney:	embryo
18	chr19:22605234-22605284	GM12878	blood:	n/a
19	chr19:22606486-22606536	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:22605188-22605238	SK-N-SH_RA	brain:	n/a
21	chr19:22606486-22606536	AoSMC	blood vessel:	n/a
22	chr19:22605151-22605201	NHDF-neo	bronchial:	n/a
23	chr19:22606486-22606536	HL-60	blood:	n/a
24	chr19:22605151-22605201	HRE	kidney:	n/a
25	chr19:22606486-22606536	Hepatocyte	liver:	n/a
26	chr19:22604979-22605029	H1-hESC	embryonic stem cell:	embryo
27	chr19:22605151-22605201	NT2-D1	testis:	n/a
28	chr19:22604979-22605029	HNPCEpiC	eye:	n/a
29	chr19:22605188-22605238	MCF-7	breast:	n/a
30	chr19:22605188-22605238	CMK	blood:	n/a
31	chr19:22606486-22606536	HMEC	breast:	n/a
32	chr19:22605789-22605839	HRPEpiC	eye:	n/a
33	chr19:22604979-22605029	NB4	blood:	n/a
34	chr19:22605789-22605839	HEEpiC	esophagus:	n/a
35	chr19:22605789-22605839	BJ	skin:	n/a
36	chr19:22605151-22605201	PrEC	prostate:	n/a
37	chr19:22605151-22605201	HRCEpiC	kidney:	n/a
38	chr19:22605186-22605236	CMK	blood:	n/a
39	chr19:22606486-22606536	HCT-116	colon:	n/a
40	chr19:22605234-22605284	HCPEpiC	choroid plexus:	n/a
41	chr19:22605234-22605284	HCM	heart:	n/a
42	chr19:22605789-22605839	HepG2	liver:	n/a
43	chr19:22605234-22605284	HIPEpiC	eye:	n/a
44	chr19:22604979-22605029	Jurkat	blood:	n/a
45	chr19:22605188-22605238	BJ	skin:	n/a
46	chr19:22604979-22605029	HAEpiC	amniotic membrane:	n/a
47	chr19:22605234-22605284	H1-hESC	embryonic stem cell:	embryo
48	chr19:22605151-22605201	Caco-2	colon:	n/a
49	chr19:22605789-22605839	HMEC	breast:	n/a
50	chr19:22605151-22605201	HCT-116	colon:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF729-3	chr19:22534271-22534424	NONHSAT063783
2	lnc-ZNF98-9	chr19:22618464-22618808	NONHSAT063787
3	lnc-ZNF729-4	chr19:22545391-22545627	NONHSAT063784
4	lnc-ZNF676-4	chr19:22590201-22591195	ucscGeneNc_uc002nqv_2
5	lnc-ZNF676-4	chr19:22598499-22598613	ucscGeneNc_uc002nqv_2

No data

Variant related genes	Relation type
ENSG00000268685	TF binding region
ENSG00000269796	TF binding region
ZNF98	TF binding region
RPL34P34	TF binding region
ENSG00000268685	CpG island
ENSG00000269796	CpG island
ZNF98	CpG island
RPL34P34	CpG island

Extended variants
information (count: 1465 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552316678	chr19:22533808-22533809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73027904	chr19:22533823-22533824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139894287	chr19:22533861-22533862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374264177	chr19:22533899-22533900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556823028	chr19:22533924-22533925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186006183	chr19:22533950-22533951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535830584	chr19:22533956-22533957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554552498	chr19:22534044-22534045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573146611	chr19:22534110-22534111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562313833	chr19:22534136-22534137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540568331	chr19:22534206-22534207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558763189	chr19:22534264-22534265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139968552	chr19:22534306-22534307	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544684947	chr19:22534319-22534320	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562802320	chr19:22534337-22534338	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530216258	chr19:22534340-22534341	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541832362	chr19:22534341-22534342	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs190373748	chr19:22534347-22534348	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs527960650	chr19:22534357-22534358	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551521555	chr19:22537625-22537626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563373459	chr19:22537633-22537634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35595899	chr19:22537655-22537656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139696526	chr19:22537678-22537679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549547953	chr19:22537702-22537703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111346530	chr19:22537708-22537709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149759487	chr19:22537723-22537724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78208626	chr19:22537750-22537751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547018114	chr19:22537781-22537782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571940635	chr19:22537806-22537807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115897479	chr19:22537828-22537829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7259586	chr19:22537862-22537863	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575776391	chr19:22537867-22537868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537146539	chr19:22537914-22537915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs141101802	chr19:22537934-22537935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375242661	chr19:22537937-22537938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368575146	chr19:22544578-22544579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542855533	chr19:22544590-22544591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561321778	chr19:22544595-22544596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573311742	chr19:22544629-22544630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570576824	chr19:22545401-22545402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs117584733	chr19:22545444-22545445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539077237	chr19:22545448-22545449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113176625	chr19:22545460-22545461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148666518	chr19:22545471-22545472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs373980608	chr19:22545527-22545528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs558962006	chr19:22545539-22545540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs577288198	chr19:22545563-22545564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs142141096	chr19:22545611-22545612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189250544	chr19:22553201-22553202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540161780	chr19:22553212-22553213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

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

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22533800-22534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:22537600-22538000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:22554800-22555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:22572600-22573000	Weak transcription	Pancreas	Pancrea
5	chr19:22573000-22573400	ZNF genes & repeats	Pancreas	Pancrea
6	chr19:22573400-22577400	Weak transcription	Pancreas	Pancrea
7	chr19:22577400-22577600	ZNF genes & repeats	Pancreas	Pancrea
8	chr19:22577600-22577800	Weak transcription	Pancreas	Pancrea
9	chr19:22579600-22582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:22582600-22583000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:22582800-22583200	ZNF genes & repeats	Ovary	ovary
12	chr19:22583200-22588600	Weak transcription	Ovary	ovary
13	chr19:22588600-22589000	ZNF genes & repeats	Ovary	ovary
14	chr19:22590400-22590600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:22590600-22590800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:22595800-22604400	Weak transcription	Ovary	ovary
17	chr19:22599400-22600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:22602600-22604400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:22604200-22605400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:22604200-22605400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr19:22604200-22605400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:22604200-22605600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:22604200-22609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:22604400-22604600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr19:22604400-22604800	Active TSS	Fetal Heart	heart
26	chr19:22604400-22605000	ZNF genes & repeats	Liver	Liver
27	chr19:22604400-22605200	Active TSS	Colon Smooth Muscle	Colon
28	chr19:22604400-22605200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr19:22604400-22605200	Active TSS	Stomach Smooth Muscle	stomach
30	chr19:22604400-22605400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:22604400-22605400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:22604400-22605400	Active TSS	Brain Cingulate Gyrus	brain
33	chr19:22604400-22605400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:22604400-22605400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:22604400-22605400	Active TSS	Fetal Kidney	kidney
36	chr19:22604400-22605400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr19:22604400-22605400	ZNF genes & repeats	Ovary	ovary
38	chr19:22604400-22605400	ZNF genes & repeats	Right Atrium	heart
39	chr19:22604400-22605600	Active TSS	Right Ventricle	heart
40	chr19:22604400-22605800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:22604400-22611600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:22604600-22605000	Active TSS	Primary B cells from cord blood	blood
43	chr19:22604600-22605200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr19:22604600-22605200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:22604600-22605200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr19:22604600-22605200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:22604600-22605200	ZNF genes & repeats	Aorta	Aorta
48	chr19:22604600-22605200	Active TSS	Brain Angular Gyrus	brain
49	chr19:22604600-22605200	Active TSS	Brain Substantia Nigra	brain
50	chr19:22604600-22605200	ZNF genes & repeats	Colonic Mucosa	Colon

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