Variant report

Variant	nsv1056971
Chromosome Location	chr19:22280694-22321219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:307)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:22317299-22317405	K562	blood:	n/a	n/a
2	CEBPB	chr19:22317520-22317702	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:22316363-22316659	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:22318406-22318779	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:22320453-22320571	A549	lung:	n/a	n/a
6	CEBPB	chr19:22318107-22318751	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr19:22316342-22316684	A549	lung:	n/a	n/a
8	CEBPB	chr19:22320441-22320600	HepG2	liver:	n/a	n/a
9	CTCF	chr19:22294750-22294821	GM13976	blood:	n/a	n/a
10	CTCF	chr19:22288010-22288081	GM13977	blood:	n/a	n/a
11	CTCF	chr19:22306343-22306483	K562	blood:	n/a	n/a
12	CTCF	chr19:22306400-22306550	HEK293	kidney:	n/a	n/a
13	CTCF	chr19:22295793-22295878	GM20000	blood:	n/a	n/a
14	E2F4	chr19:22299519-22299743	MCF10A-Er-Src	breast:	n/a	n/a
15	EGR1	chr19:22296773-22296918	GM12878	blood:	n/a	n/a
16	MAFF	chr19:22282921-22283114	HepG2	liver:	n/a	chr19:22282965-22282983
17	MAFF	chr19:22282951-22283148	K562	blood:	n/a	chr19:22282965-22282983
18	MAFK	chr19:22282892-22283214	HepG2	liver:	n/a	n/a
19	MAFK	chr19:22292980-22293251	HepG2	liver:	n/a	n/a
20	MAFK	chr19:22302513-22302707	HepG2	liver:	n/a	n/a
21	MAFK	chr19:22297121-22297622	HepG2	liver:	n/a	chr19:22297456-22297467 chr19:22297456-22297467 chr19:22297455-22297469
22	MAFK	chr19:22282921-22283170	IMR90	lung:	n/a	n/a
23	MXI1	chr19:22299486-22299587	GM12878	blood:	n/a	n/a
24	NFYA	chr19:22284050-22284238	GM12878	blood:	n/a	n/a
25	NFYB	chr19:22302257-22302335	GM12878	blood:	n/a	n/a
26	NR2F2	chr19:22304250-22304580	MCF-7	breast:	n/a	n/a
27	NR2F2	chr19:22288926-22289421	K562	blood:	n/a	n/a
28	NR2F2	chr19:22289004-22289283	K562	blood:	n/a	n/a
29	PAX5	chr19:22296677-22296948	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:22320603-22320873	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr19:22313634-22313785	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:22320677-22320881	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr19:22320599-22320923	Gliobla	brain:	n/a	n/a
34	POLR2A	chr19:22302521-22302573	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr19:22294848-22294874	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:22315275-22315653	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr19:22280721-22280765	K562	blood:	n/a	n/a
38	POLR2A	chr19:22281481-22281589	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr19:22320704-22320815	A549	lung:	n/a	n/a
40	POLR2A	chr19:22292862-22293087	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr19:22283329-22283438	A549	lung:	n/a	n/a
42	POLR2A	chr19:22281902-22282360	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr19:22320693-22320845	A549	lung:	n/a	n/a
44	POLR2A	chr19:22296103-22296119	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:22320689-22320804	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:22320643-22320834	A549	lung:	n/a	n/a
47	POLR2A	chr19:22320987-22321059	Gliobla	brain:	n/a	n/a
48	POLR2A	chr19:22312478-22312492	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr19:22309315-22309322	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr19:22320712-22320769	MCF-7	breast:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22319196-22319246	RPTEC	kidney:	n/a
2	chr19:22319196-22319246	HRPEpiC	eye:	n/a
3	chr19:22319196-22319246	RPTEC	kidney:	n/a
4	chr19:22319196-22319246	HRPEpiC	eye:	n/a
5	chr19:22320869-22320919	H1-hESC	embryonic stem cell:	embryo
6	chr19:22319196-22319246	AG04449	skin:	fetal
7	chr19:22320869-22320919	HIPEpiC	eye:	n/a
8	chr19:22320975-22321025	GM12892	blood:	n/a
9	chr19:22320975-22321025	HL-60	blood:	n/a
10	chr19:22320975-22321025	GM19239	blood:	n/a
11	chr19:22320975-22321025	IMR90	lung:	fetal
12	chr19:22318466-22318516	CMK	blood:	n/a
13	chr19:22320744-22320794	BE2_C	brain:	n/a
14	chr19:22320744-22320794	SK-N-SH	brain:	n/a
15	chr19:22320869-22320919	AoSMC	blood vessel:	n/a
16	chr19:22319196-22319246	MCF-7	breast:	n/a
17	chr19:22318466-22318516	PANC-1	pancreas:	n/a
18	chr19:22320744-22320794	HepG2	liver:	n/a
19	chr19:22319196-22319246	HAEpiC	amniotic membrane:	n/a
20	chr19:22320744-22320794	GM06990	blood:	n/a
21	chr19:22320869-22320919	HAEpiC	amniotic membrane:	n/a
22	chr19:22320869-22320919	A549	lung:	n/a
23	chr19:22318466-22318516	Hepatocyte	liver:	n/a
24	chr19:22320744-22320794	HNPCEpiC	eye:	n/a
25	chr19:22320975-22321025	HCPEpiC	choroid plexus:	n/a
26	chr19:22320869-22320919	PFSK-1	brain:	n/a
27	chr19:22318466-22318516	NHDF-neo	bronchial:	n/a
28	chr19:22320975-22321025	Hepatocyte	liver:	n/a
29	chr19:22318466-22318516	HEK293	kidney:	embryo
30	chr19:22320744-22320794	HL-60	blood:	n/a
31	chr19:22319196-22319246	NT2-D1	testis:	n/a
32	chr19:22320744-22320794	HCPEpiC	choroid plexus:	n/a
33	chr19:22320744-22320794	SK-N-MC	brain:	n/a
34	chr19:22319196-22319246	HRE	kidney:	n/a
35	chr19:22320744-22320794	HRCEpiC	kidney:	n/a
36	chr19:22318466-22318516	ovcar-3	ovarian:	n/a
37	chr19:22319196-22319246	ECC-1	luminal epithelium:	n/a
38	chr19:22320744-22320794	NT2-D1	testis:	n/a
39	chr19:22320869-22320919	BE2_C	brain:	n/a
40	chr19:22320975-22321025	H1-hESC	embryonic stem cell:	embryo
41	chr19:22320744-22320794	AG04449	skin:	fetal
42	chr19:22318466-22318516	GM12891	blood:	n/a
43	chr19:22320975-22321025	HMEC	breast:	n/a
44	chr19:22320869-22320919	MCF-7	breast:	n/a
45	chr19:22320869-22320919	MCF10A-Er-Src	breast:	n/a
46	chr19:22320744-22320794	GM12892	blood:	n/a
47	chr19:22318466-22318516	HCF	heart:	n/a
48	chr19:22320744-22320794	MCF-7	breast:	n/a
49	chr19:22320744-22320794	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:22320869-22320919	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22236195..22238676-chr19:22281763..22284450,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-3	chr19:22311429-22311769	NONHSAT063766
2	lnc-ZNF676-3	chr19:22312574-22313120	NONHSAT063766
3	lnc-ZNF676-3	chr19:22314709-22314736	NONHSAT063766
4	lnc-ZNF676-3	chr19:22312079-22312249	NONHSAT063766

No data

Variant related genes	Relation type
ENSG00000269575	TF binding region
ENSG00000268116	TF binding region
ZNF92P2	TF binding region
PCGF7P	TF binding region
ENSG00000269575	CpG island
ENSG00000268116	CpG island
ZNF92P2	CpG island
PCGF7P	CpG island

Extended variants
information (count: 547 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:547 , 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	rs563080512	chr19:22280713-22280714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530300351	chr19:22280714-22280715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548526971	chr19:22280774-22280775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10410688	chr19:22280779-22280780	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140168230	chr19:22280795-22280796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529740341	chr19:22282483-22282484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117574244	chr19:22282486-22282487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566465784	chr19:22282492-22282493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs118190124	chr19:22282513-22282514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551975939	chr19:22282571-22282572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558237761	chr19:22282577-22282578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184351611	chr19:22282584-22282585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12151358	chr19:22282608-22282609	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2099347	chr19:22282614-22282615	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535893048	chr19:22282649-22282650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189642348	chr19:22282655-22282656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572797009	chr19:22282667-22282668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs180824677	chr19:22282678-22282679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147646351	chr19:22282713-22282714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111724992	chr19:22282718-22282719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555270389	chr19:22282733-22282734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375059563	chr19:22282752-22282753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368361608	chr19:22282753-22282754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574077790	chr19:22282779-22282780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368433216	chr19:22282799-22282800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541453677	chr19:22282802-22282803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185830182	chr19:22282815-22282816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371251116	chr19:22282817-22282818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190155891	chr19:22282841-22282842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150165200	chr19:22282864-22282865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35347603	chr19:22282884-22282885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145591522	chr19:22282893-22282894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7260631	chr19:22282906-22282907	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs181653984	chr19:22282932-22282933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563021903	chr19:22282948-22282949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535819075	chr19:22282962-22282963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11883273	chr19:22283007-22283008	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566333881	chr19:22283032-22283033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200920763	chr19:22283071-22283072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10425828	chr19:22283077-22283078	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558474474	chr19:22283191-22283192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200664270	chr19:22283193-22283194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368105702	chr19:22283218-22283219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576551869	chr19:22283230-22283231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567302305	chr19:22283237-22283238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555965698	chr19:22283246-22283247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148864740	chr19:22283247-22283248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541390364	chr19:22283306-22283307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559727761	chr19:22283327-22283328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374818445	chr19:22283328-22283329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22280200-22280800	ZNF genes & repeats	Liver	Liver
2	chr19:22280600-22280800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:22282400-22284200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:22285200-22285600	ZNF genes & repeats	Liver	Liver
5	chr19:22286000-22286800	ZNF genes & repeats	Liver	Liver
6	chr19:22299000-22299200	Active TSS	Liver	Liver
7	chr19:22299200-22299600	Enhancers	Liver	Liver
8	chr19:22299600-22299800	Flanking Active TSS	Liver	Liver
9	chr19:22299800-22300400	Enhancers	Liver	Liver
10	chr19:22300400-22300800	Flanking Active TSS	Liver	Liver
11	chr19:22300800-22301600	Weak transcription	Liver	Liver
12	chr19:22301600-22303200	ZNF genes & repeats	Liver	Liver
13	chr19:22304800-22305200	Enhancers	Liver	Liver
14	chr19:22307400-22308800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr19:22307600-22309200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:22307800-22308600	ZNF genes & repeats	Liver	Liver
17	chr19:22316000-22316600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:22317600-22319000	ZNF genes & repeats	Liver	Liver
19	chr19:22317800-22318400	Active TSS	Fetal Heart	heart

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