Variant report

Variant	esv1816422
Chromosome Location	chr19:23101155-23142293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:23128373-23128734	K562	blood:	n/a	n/a
2	CBX3	chr19:23128448-23128739	K562	blood:	n/a	n/a
3	CBX3	chr19:23128402-23128691	HCT-116	colon:	n/a	n/a
4	CEBPB	chr19:23118313-23118486	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:23118694-23118941	A549	lung:	n/a	n/a
6	CEBPB	chr19:23118289-23118446	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:23118721-23118923	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:23116866-23117566	A549	lung:	n/a	n/a
9	CEBPB	chr19:23116869-23117510	IMR90	lung:	n/a	n/a
10	CEBPB	chr19:23107039-23107556	IMR90	lung:	n/a	n/a
11	CEBPB	chr19:23107004-23107585	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:23106996-23107641	A549	lung:	n/a	n/a
13	CEBPB	chr19:23118365-23118458	A549	lung:	n/a	n/a
14	CEBPB	chr19:23116861-23117528	HepG2	liver:	n/a	n/a
15	CEBPZ	chr19:23128408-23128691	HepG2	liver:	n/a	n/a
16	CTCF	chr19:23137076-23137102	GM13976	blood:	n/a	n/a
17	CTCF	chr19:23128743-23128811	GM20000	blood:	n/a	n/a
18	CTCF	chr19:23126604-23126632	LNCaP	prostate:	n/a	n/a
19	FOS	chr19:23118161-23118254	MCF10A-Er-Src	breast:	n/a	n/a
20	IRF1	chr19:23128492-23128575	K562	blood:	n/a	n/a
21	IRF1	chr19:23128491-23128683	K562	blood:	n/a	n/a
22	JUN	chr19:23128536-23128736	K562	blood:	n/a	n/a
23	JUND	chr19:23107509-23107709	HepG2	liver:	n/a	n/a
24	JUND	chr19:23114496-23114687	HepG2	liver:	n/a	chr19:23114530-23114541
25	KAP1	chr19:23128249-23128887	HEK293	kidney:	n/a	n/a
26	KAP1	chr19:23128035-23128973	K562	blood:	n/a	n/a
27	KAP1	chr19:23128413-23128733	U2OS	brain:	n/a	n/a
28	MAFK	chr19:23106867-23107067	HepG2	liver:	n/a	n/a
29	MAFK	chr19:23102813-23102906	HepG2	liver:	n/a	n/a
30	MAX	chr19:23128504-23128630	NB4	blood:	n/a	n/a
31	MAX	chr19:23101510-23101838	NB4	blood:	n/a	chr19:23101670-23101680
32	MYC	chr19:23128521-23128647	NB4	blood:	n/a	n/a
33	MYC	chr19:23128444-23128645	K562	blood:	n/a	n/a
34	MYC	chr19:23128508-23128648	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr19:23128674-23128676	K562	blood:	n/a	n/a
36	MYC	chr19:23128685-23128721	K562	blood:	n/a	n/a
37	NR2F2	chr19:23110988-23111297	K562	blood:	n/a	n/a
38	NR2F2	chr19:23110898-23111408	K562	blood:	n/a	n/a
39	POLR2A	chr19:23132555-23132561	A549	lung:	n/a	n/a
40	POLR2A	chr19:23132731-23132741	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:23132563-23132694	A549	lung:	n/a	n/a
42	POLR2A	chr19:23127257-23127284	GM12878	blood:	n/a	n/a
43	SETDB1	chr19:23128299-23128916	U2OS	brain:	n/a	n/a
44	SETDB1	chr19:23128385-23128742	K562	blood:	n/a	n/a
45	STAT3	chr19:23106606-23106800	MCF10A-Er-Src	breast:	n/a	n/a
46	TRIM28	chr19:23128464-23128679	K562	blood:	n/a	n/a
47	TRIM28	chr19:23128411-23128726	K562	blood:	n/a	n/a
48	USF1	chr19:23128477-23128665	ECC-1	luminal epithelium:	n/a	n/a
49	USF1	chr19:23128466-23128603	HepG2	liver:	n/a	n/a
50	USF1	chr19:23128482-23128641	HepG2	liver:	n/a	n/a

No data

(count:1 , 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:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063828
2	lnc-ZNF99-2	chr19:23115571-23115840	XLOC_013271
3	lnc-ZNF730-4	chr19:23102467-23102583	XLOC_013016
4	lnc-ZNF730-4	chr19:23102467-23102684	NONHSAT063828
5	lnc-ZNF99-2	chr19:23128467-23128510	XLOC_013271
6	lnc-ZNF730-4	chr19:23101230-23101476	XLOC_013016
7	lnc-ZNF730-4	chr19:23102895-23103113	NONHSAT063827
8	lnc-ZNF730-4	chr19:23102895-23103055	NONHSAT063831
9	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063827
10	lnc-ZNF730-4	chr19:23102895-23103160	XLOC_013016
11	lnc-ZNF730-4	chr19:23101230-23101476	NONHSAT063831

No data

Variant related genes	Relation type
ENSG00000269458	TF binding region
ENSG00000268296	TF binding region
ENSG00000269615	chromatin interactions
CREBZF	miRNA target sites
CREBL2	miRNA target sites

Extended variants
information (count: 461 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575370095	chr19:23101235-23101236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs537915918	chr19:23101237-23101238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs35396678	chr19:23101248-23101249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs370134525	chr19:23101262-23101263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561252479	chr19:23101270-23101271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528523367	chr19:23101271-23101272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs547115881	chr19:23101301-23101302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs565420654	chr19:23101314-23101315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557889515	chr19:23101319-23101320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs139580850	chr19:23101332-23101333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192823719	chr19:23101334-23101335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs144205248	chr19:23101346-23101347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548891101	chr19:23101370-23101371	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs566919360	chr19:23101376-23101377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs60820548	chr19:23101418-23101419	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151029809	chr19:23101424-23101425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs386808027	chr19:23101430-23101431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs61043039	chr19:23101431-23101432	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79954568	chr19:23101469-23101470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575783877	chr19:23101471-23101472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs116151883	chr19:23101475-23101476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs573267420	chr19:23101510-23101511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs59936050	chr19:23101567-23101568	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375658518	chr19:23101583-23101584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs565188646	chr19:23101596-23101597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371215920	chr19:23101608-23101609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373691465	chr19:23101636-23101637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113716146	chr19:23101675-23101676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188798502	chr19:23101677-23101678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201669451	chr19:23101687-23101688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563055648	chr19:23101724-23101725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565649653	chr19:23101763-23101764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs10416256	chr19:23101766-23101767	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181950840	chr19:23101772-23101773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528030143	chr19:23101783-23101784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546209333	chr19:23101836-23101837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs577156781	chr19:23102473-23102474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201421334	chr19:23102484-23102485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs544289515	chr19:23102535-23102536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs146349426	chr19:23102541-23102542	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs531447771	chr19:23102553-23102554	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542377653	chr19:23102569-23102570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs28564191	chr19:23102591-23102592	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376926162	chr19:23102617-23102618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs370040548	chr19:23102651-23102652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs529796995	chr19:23102907-23102908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs142829997	chr19:23102908-23102909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191184251	chr19:23102914-23102915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs181161334	chr19:23102917-23102918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552795973	chr19:23102924-23102925	Inactive region	lncRNA	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23107000-23107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
5	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:23128400-23128800	Active TSS	Fetal Heart	heart
8	chr19:23129400-23130000	Active TSS	Right Atrium	heart
9	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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