Variant report

Variant	esv1796471
Chromosome Location	chr19:22325017-22361741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr19:22327265-22327471	GM12878	blood:	n/a	n/a
2	CBX3	chr19:22327195-22327536	K562	blood:	n/a	n/a
3	CBX3	chr19:22327182-22327501	K562	blood:	n/a	n/a
4	CBX3	chr19:22327284-22327512	HCT-116	colon:	n/a	n/a
5	CEBPB	chr19:22353367-22353394	HepG2	liver:	n/a	chr19:22353370-22353381
6	CEBPZ	chr19:22327227-22327553	HepG2	liver:	n/a	n/a
7	CTCF	chr19:22350251-22350267	GM13976	blood:	n/a	n/a
8	CTCF	chr19:22326760-22326910	MCF-7	breast:	n/a	n/a
9	CTCF	chr19:22342028-22342100	LNCaP	prostate:	n/a	n/a
10	CTCF	chr19:22326880-22327030	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr19:22354495-22354502	Medullo	brain:	n/a	n/a
12	CTCF	chr19:22347623-22347657	GM10248	blood:	n/a	n/a
13	CTCF	chr19:22353464-22353507	Lung_OC	lung:	n/a	n/a
14	CTCF	chr19:22344343-22344384	GM20000	blood:	n/a	n/a
15	EP300	chr19:22327307-22327434	GM12878	blood:	n/a	n/a
16	EP300	chr19:22327314-22327434	GM12878	blood:	n/a	n/a
17	IRF1	chr19:22355978-22356140	K562	blood:	n/a	n/a
18	IRF1	chr19:22327297-22327497	K562	blood:	n/a	n/a
19	IRF3	chr19:22327410-22327486	GM12878	blood:	n/a	n/a
20	JUN	chr19:22327208-22327544	K562	blood:	n/a	n/a
21	JUND	chr19:22354162-22354387	HepG2	liver:	n/a	chr19:22354279-22354290
22	KAP1	chr19:22326970-22327837	K562	blood:	n/a	n/a
23	KAP1	chr19:22327199-22327612	U2OS	brain:	n/a	n/a
24	KAP1	chr19:22327012-22327731	HEK293	kidney:	n/a	n/a
25	MAX	chr19:22327346-22327383	GM12878	blood:	n/a	n/a
26	MAZ	chr19:22327282-22327551	K562	blood:	n/a	n/a
27	MAZ	chr19:22327332-22327383	GM12878	blood:	n/a	n/a
28	MXI1	chr19:22327280-22327474	GM12878	blood:	n/a	n/a
29	MYC	chr19:22327239-22327538	K562	blood:	n/a	n/a
30	MYC	chr19:22327313-22327512	K562	blood:	n/a	n/a
31	NFYA	chr19:22325933-22326119	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:22331306-22331352	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:22331437-22331597	A549	lung:	n/a	n/a
34	POLR2A	chr19:22351267-22351387	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr19:22354617-22354778	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr19:22331563-22331577	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr19:22331364-22331423	A549	lung:	n/a	n/a
38	POLR2A	chr19:22347689-22347762	A549	lung:	n/a	n/a
39	POLR2A	chr19:22359642-22359794	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr19:22354862-22354995	GM12878	blood:	n/a	n/a
41	RCOR1	chr19:22327327-22327563	K562	blood:	n/a	n/a
42	REST	chr19:22340538-22340637	PANC-1	pancreas:	n/a	n/a
43	SETDB1	chr19:22327180-22327554	K562	blood:	n/a	n/a
44	SETDB1	chr19:22327033-22327653	U2OS	brain:	n/a	n/a
45	SP1	chr19:22327255-22327562	GM12878	blood:	n/a	n/a
46	STAT1	chr19:22327364-22327515	GM12878	blood:	n/a	n/a
47	STAT3	chr19:22353179-22353554	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr19:22328780-22328872	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr19:22360031-22360451	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF7	chr19:22327202-22327499	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-2	chr19:22357568-22357993	NONHSAT063768

No data

Variant related genes	Relation type
VN1R85P	TF binding region

Extended variants
information (count: 549 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2204581	chr19:22325017-22325018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528156411	chr19:22325023-22325024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73021862	chr19:22325025-22325026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186965602	chr19:22325034-22325035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192681135	chr19:22325068-22325069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184903016	chr19:22325080-22325081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569125905	chr19:22325101-22325102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188165779	chr19:22325151-22325152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548343475	chr19:22325166-22325167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548391315	chr19:22325172-22325173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566709445	chr19:22325187-22325188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60583172	chr19:22325200-22325201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139321780	chr19:22325208-22325209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559095480	chr19:22325225-22325226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570818426	chr19:22325230-22325231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538229033	chr19:22325244-22325245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144082791	chr19:22325284-22325285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575053582	chr19:22325323-22325324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7255498	chr19:22325391-22325392	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553912023	chr19:22325446-22325447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370254386	chr19:22325454-22325455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572325631	chr19:22325483-22325484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192952480	chr19:22325511-22325512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539896377	chr19:22325512-22325513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564649879	chr19:22325542-22325543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532151552	chr19:22325550-22325551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368680450	chr19:22325554-22325555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs3034994	chr19:22325604-22325605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560537800	chr19:22325606-22325607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61475040	chr19:22325607-22325608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200151173	chr19:22325608-22325609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200779160	chr19:22325609-22325610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184227931	chr19:22325671-22325672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189369982	chr19:22325685-22325686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568304492	chr19:22325693-22325694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571253882	chr19:22325694-22325695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529986561	chr19:22325705-22325706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192318337	chr19:22325711-22325712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566621704	chr19:22325753-22325754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530622101	chr19:22325780-22325781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527491392	chr19:22325816-22325817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184702169	chr19:22325829-22325830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77042714	chr19:22325842-22325843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537979775	chr19:22325845-22325846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550131584	chr19:22325848-22325849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568376476	chr19:22325887-22325888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146480504	chr19:22325896-22325897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554049078	chr19:22325990-22325991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139882936	chr19:22325992-22325993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs617609	chr19:22326000-22326001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22323800-22327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:22325200-22325600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:22326200-22328000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:22326200-22329200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:22326800-22328400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:22327000-22327800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr19:22327200-22327600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:22327200-22327600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:22327200-22328000	ZNF genes & repeats	Liver	Liver
10	chr19:22327200-22328200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:22330600-22332000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:22331200-22331600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:22331200-22331800	ZNF genes & repeats	Lung	lung
14	chr19:22331200-22332000	ZNF genes & repeats	Liver	Liver
15	chr19:22331800-22332200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
16	chr19:22344000-22344800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:22344600-22346400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:22345400-22346000	Active TSS	Fetal Heart	heart
19	chr19:22359400-22361200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:22360400-22368800	ZNF genes & repeats	Adipose Nuclei	Adipose

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