Variant report

Variant	nsv911455
Chromosome Location	chr19:23023614-23153750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:855)
Chromatin interactive
region (count:2)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:23128402-23128691	HCT-116	colon:	n/a	n/a
2	CBX3	chr19:23128373-23128734	K562	blood:	n/a	n/a
3	CBX3	chr19:23128448-23128739	K562	blood:	n/a	n/a
4	CEBPB	chr19:23101011-23101078	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:23118313-23118486	IMR90	lung:	n/a	n/a
6	CEBPB	chr19:23118289-23118446	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:23118694-23118941	A549	lung:	n/a	n/a
8	CEBPB	chr19:23107004-23107585	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:23088103-23088368	IMR90	lung:	n/a	chr19:23088244-23088255
10	CEBPB	chr19:23024815-23025038	HepG2	liver:	n/a	chr19:23024862-23024873
11	CEBPB	chr19:23107039-23107556	IMR90	lung:	n/a	n/a
12	CEBPB	chr19:23100080-23100648	A549	lung:	n/a	n/a
13	CEBPB	chr19:23118365-23118458	A549	lung:	n/a	n/a
14	CEBPB	chr19:23099054-23099179	HepG2	liver:	n/a	n/a
15	CEBPB	chr19:23024689-23025038	IMR90	lung:	n/a	chr19:23024862-23024873
16	CEBPB	chr19:23116866-23117566	A549	lung:	n/a	n/a
17	CEBPB	chr19:23088142-23088308	H1-hESC	embryonic stem cell:	n/a	chr19:23088244-23088255
18	CEBPB	chr19:23116861-23117528	HepG2	liver:	n/a	n/a
19	CEBPB	chr19:23088132-23088392	HepG2	liver:	n/a	chr19:23088244-23088255
20	CEBPB	chr19:23100561-23100568	HepG2	liver:	n/a	n/a
21	CEBPB	chr19:23097513-23097705	A549	lung:	n/a	n/a
22	CEBPB	chr19:23116869-23117510	IMR90	lung:	n/a	n/a
23	CEBPB	chr19:23118721-23118923	HepG2	liver:	n/a	n/a
24	CEBPB	chr19:23024786-23024905	A549	lung:	n/a	chr19:23024862-23024873
25	CEBPB	chr19:23088104-23088381	Hela-S3	cervix:	n/a	chr19:23088244-23088255
26	CEBPB	chr19:23097511-23097684	IMR90	lung:	n/a	n/a
27	CEBPB	chr19:23097072-23097285	A549	lung:	n/a	n/a
28	CEBPB	chr19:23097070-23097684	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:23106996-23107641	A549	lung:	n/a	n/a
30	CEBPB	chr19:23088098-23088406	K562	blood:	n/a	chr19:23088244-23088255
31	CEBPB	chr19:23088090-23088375	A549	lung:	n/a	chr19:23088244-23088255
32	CEBPZ	chr19:23128408-23128691	HepG2	liver:	n/a	n/a
33	CTCF	chr19:23065720-23065870	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr19:23065720-23065870	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr19:23065740-23065890	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr19:23065740-23065890	SAEC	small airway:	n/a	n/a
37	CTCF	chr19:23065680-23065830	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr19:23065700-23065850	GM12874	blood:	n/a	n/a
39	CTCF	chr19:23038797-23038835	GM10266	blood:	n/a	n/a
40	CTCF	chr19:23065719-23065889	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr19:23065680-23065830	NHEK	skin:	n/a	n/a
42	CTCF	chr19:23065720-23065870	HVMF	connective:	n/a	n/a
43	CTCF	chr19:23077040-23077190	GM12874	blood:	n/a	chr19:23077042-23077051 chr19:23077042-23077055 chr19:23077044-23077054 chr19:23077041-23077062
44	CTCF	chr19:23065664-23065912	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr19:23032096-23032107	Medullo	brain:	n/a	n/a
46	CTCF	chr19:23076917-23077307	K562	blood:	n/a	chr19:23077042-23077051 chr19:23077042-23077055 chr19:23077044-23077054 chr19:23077039-23077057 chr19:23077041-23077062
47	CTCF	chr19:23065490-23066038	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:23065580-23065730	HCM	heart:	n/a	n/a
49	CTCF	chr19:23065708-23065900	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr19:23065711-23065893	Gliobla	brain:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:23084225-23084275	A549	lung:	n/a
2	chr19:23084225-23084275	A549	lung:	n/a
3	chr19:23083266-23083316	NH-A	brain:	n/a
4	chr19:23076606-23076656	AG09309	skin:	n/a
5	chr19:23077806-23077856	Hepatocyte	liver:	n/a
6	chr19:23086385-23086435	HCPEpiC	choroid plexus:	n/a
7	chr19:23076606-23076656	GM12891	blood:	n/a
8	chr19:23076606-23076656	HUVEC	blood vessel:	n/a
9	chr19:23079190-23079240	ProgFib	skin:	n/a
10	chr19:23084244-23084294	GM12878	blood:	n/a
11	chr19:23074283-23074333	MCF10A-Er-Src	breast:	n/a
12	chr19:23076555-23076605	GM12891	blood:	n/a
13	chr19:23077008-23077058	HAEpiC	amniotic membrane:	n/a
14	chr19:23077806-23077856	SAEC	small airway:	n/a
15	chr19:23086385-23086435	HIPEpiC	eye:	n/a
16	chr19:23077008-23077058	HEK293	kidney:	embryo
17	chr19:23079190-23079240	HRPEpiC	eye:	n/a
18	chr19:23074283-23074333	SK-N-SH_RA	brain:	n/a
19	chr19:23084244-23084294	AG09309	skin:	n/a
20	chr19:23083266-23083316	Hepatocyte	liver:	n/a
21	chr19:23083266-23083316	MCF-7	breast:	n/a
22	chr19:23083266-23083316	GM06990	blood:	n/a
23	chr19:23076870-23076920	SKMC	muscle:	n/a
24	chr19:23084806-23084856	HIPEpiC	eye:	n/a
25	chr19:23084806-23084856	AG10803	skin:	n/a
26	chr19:23077008-23077058	SK-N-SH	brain:	n/a
27	chr19:23076870-23076920	HepG2	liver:	n/a
28	chr19:23074283-23074333	NHDF-neo	bronchial:	n/a
29	chr19:23079190-23079240	AoSMC	blood vessel:	n/a
30	chr19:23074283-23074333	AoSMC	blood vessel:	n/a
31	chr19:23086385-23086435	PrEC	prostate:	n/a
32	chr19:23082052-23082102	Hela-S3	cervix:	n/a
33	chr19:23082052-23082102	HCPEpiC	choroid plexus:	n/a
34	chr19:23084806-23084856	AG04449	skin:	fetal
35	chr19:23084806-23084856	NH-A	brain:	n/a
36	chr19:23086385-23086435	HepG2	liver:	n/a
37	chr19:23082052-23082102	SK-N-SH	brain:	n/a
38	chr19:23077806-23077856	K562	blood:	n/a
39	chr19:23076870-23076920	HNPCEpiC	eye:	n/a
40	chr19:23077806-23077856	CMK	blood:	n/a
41	chr19:23082052-23082102	AG04450	lung:	fetal
42	chr19:23084470-23084520	LNCaP	prostate:	n/a
43	chr19:23084244-23084294	IMR90	lung:	fetal
44	chr19:23077806-23077856	Jurkat	blood:	n/a
45	chr19:23077008-23077058	AG04450	lung:	fetal
46	chr19:23084470-23084520	A549	lung:	n/a
47	chr19:23077008-23077058	HCM	heart:	n/a
48	chr19:23083266-23083316	SK-N-SH	brain:	n/a
49	chr19:23076870-23076920	HL-60	blood:	n/a
50	chr19:23084470-23084520	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22121231..22124221-chr19:23121228..23123891,2	MCF-7	breast:
2	chr19:23062117..23064489-chr8:12599332..12601414,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063827
2	lnc-ZNF99-3	chr19:23023234-23023723	NONHSAT063824
3	lnc-ZNF730-4	chr19:23102467-23102684	NONHSAT063828
4	lnc-ZNF730-4	chr19:23102467-23102583	XLOC_013016
5	lnc-ZNF99-1	chr19:23093696-23093759	ENSG00000268296.1
6	lnc-ZNF730-4	chr19:23102895-23103113	NONHSAT063827
7	lnc-ZNF730-4	chr19:23102895-23103055	NONHSAT063831
8	lnc-AC011467.1-5	chr19:23031998-23032095	NONHSAT063825
9	lnc-ZNF730-4	chr19:23101230-23101476	XLOC_013016
10	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063828
11	lnc-ZNF99-1	chr19:23096927-23097091	ENSG00000268296.1
12	lnc-ZNF730-4	chr19:23083412-23083590	NONHSAT063827
13	lnc-ZNF99-1	chr19:23096927-23097056	XLOC_013270
14	lnc-ZNF730-4	chr19:23083412-23083590	NONHSAT063828
15	lnc-ZNF99-1	chr19:23086798-23087004	XLOC_013270
16	lnc-AC011467.1-5	chr19:23039920-23040249	NONHSAT063825
17	lnc-AC011467.1-6	chr19:23044105-23044396	NONHSAT063826
18	lnc-ZNF730-4	chr19:23098271-23098302	NONHSAT063831
19	lnc-ZNF730-4	chr19:23102895-23103160	XLOC_013016
20	lnc-ZNF99-1	chr19:23089888-23090041	ENSG00000268296.1
21	lnc-ZNF99-2	chr19:23128467-23128510	XLOC_013271
22	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063831
23	lnc-ZNF99-2	chr19:23115571-23115840	XLOC_013271

No data

Variant related genes	Relation type
VN1R88P	TF binding region
ENSG00000271655	TF binding region
ENSG00000269458	TF binding region
ENSG00000268296	TF binding region
VN1R88P	CpG island
ENSG00000271655	CpG island
ENSG00000269458	CpG island
ENSG00000268296	CpG island
ENSG00000269615	chromatin interactions
ENSG00000154359	chromatin interactions
CREBZF	miRNA target sites
CREBL2	miRNA target sites

Extended variants
information (count: 1220 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12983770	chr19:23023614-23023615	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541630650	chr19:23023648-23023649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553676849	chr19:23023664-23023665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs3919873	chr19:23023681-23023682	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141178300	chr19:23023696-23023697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs111248325	chr19:23023706-23023707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563664184	chr19:23023708-23023709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530843651	chr19:23024697-23024698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549051605	chr19:23024699-23024700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113753195	chr19:23024705-23024706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs180981745	chr19:23024729-23024730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566575614	chr19:23024773-23024774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150698438	chr19:23024804-23024805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368399116	chr19:23024805-23024806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs59309724	chr19:23024824-23024825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560938938	chr19:23024843-23024844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528123976	chr19:23024852-23024853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12977975	chr19:23024900-23024901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555112122	chr19:23024910-23024911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs568521550	chr19:23024979-23024980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139807817	chr19:23024982-23024983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571379113	chr19:23025035-23025036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186722169	chr19:23032002-23032003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs75390133	chr19:23032007-23032008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs73924714	chr19:23032052-23032053	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114282788	chr19:23038280-23038281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535207537	chr19:23038330-23038331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62120774	chr19:23038360-23038361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562808299	chr19:23038383-23038384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182175878	chr19:23038416-23038417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs8108944	chr19:23038443-23038444	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186400866	chr19:23038450-23038451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75811259	chr19:23038490-23038491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545118684	chr19:23038495-23038496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142807265	chr19:23038583-23038584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374983223	chr19:23038585-23038586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs565273139	chr19:23038592-23038593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77098423	chr19:23038657-23038658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190801592	chr19:23038667-23038668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571848233	chr19:23038785-23038786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs151024707	chr19:23038798-23038799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs550554872	chr19:23038802-23038803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568959647	chr19:23038823-23038824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139213173	chr19:23038832-23038833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145279959	chr19:23038866-23038867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182351532	chr19:23038876-23038877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186621671	chr19:23038885-23038886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147624776	chr19:23038928-23038929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142145290	chr19:23038947-23038948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545368298	chr19:23038993-23038994	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23038200-23041400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:23038200-23046200	ZNF genes & repeats	Liver	Liver
3	chr19:23038400-23042800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:23039200-23041800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:23039200-23044400	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:23039400-23042000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr19:23040600-23041400	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:23041800-23042200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:23043000-23043800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:23062400-23063600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23078600-23080200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:23082200-23083600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:23082800-23085000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:23083800-23084800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:23107000-23107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
19	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:23128400-23128800	Active TSS	Fetal Heart	heart
22	chr19:23129400-23130000	Active TSS	Right Atrium	heart
23	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:23153400-23153800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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