Variant report

Variant	nsv963027
Chromosome Location	chr19:22310707-22321259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:307)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

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	chr19:22320441-22320600	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:22318406-22318779	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:22318107-22318751	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr19:22317520-22317702	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:22316342-22316684	A549	lung:	n/a	n/a
7	CEBPB	chr19:22320453-22320571	A549	lung:	n/a	n/a
8	CEBPB	chr19:22316363-22316659	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:22320704-22320815	A549	lung:	n/a	n/a
10	POLR2A	chr19:22320689-22320804	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:22320643-22320834	A549	lung:	n/a	n/a
12	POLR2A	chr19:22320693-22320845	A549	lung:	n/a	n/a
13	POLR2A	chr19:22320601-22320821	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:22312478-22312492	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr19:22320688-22320803	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:22320397-22320407	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr19:22320599-22320923	Gliobla	brain:	n/a	n/a
18	POLR2A	chr19:22315275-22315653	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr19:22320614-22320767	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr19:22320718-22320816	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:22320987-22321059	Gliobla	brain:	n/a	n/a
22	POLR2A	chr19:22320712-22320769	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:22320603-22320873	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:22320695-22320838	K562	blood:	n/a	n/a
25	POLR2A	chr19:22313634-22313785	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:22320799-22320822	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:22320677-22320881	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr19:22320660-22320923	HepG2	liver:	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	chr19:22320975-22321025	HCM	heart:	n/a
2	chr19:22319196-22319246	AG10803	skin:	n/a
3	chr19:22320975-22321025	HCM	heart:	n/a
4	chr19:22319196-22319246	AG10803	skin:	n/a
5	chr19:22319196-22319246	MCF-7	breast:	n/a
6	chr19:22319196-22319246	A549	lung:	n/a
7	chr19:22320869-22320919	HCF	heart:	n/a
8	chr19:22320975-22321025	HRPEpiC	eye:	n/a
9	chr19:22319196-22319246	BE2_C	brain:	n/a
10	chr19:22320975-22321025	PFSK-1	brain:	n/a
11	chr19:22320975-22321025	K562	blood:	n/a
12	chr19:22319196-22319246	AG04449	skin:	fetal
13	chr19:22320975-22321025	HEEpiC	esophagus:	n/a
14	chr19:22320869-22320919	HRPEpiC	eye:	n/a
15	chr19:22320744-22320794	HRE	kidney:	n/a
16	chr19:22319196-22319246	T-47D	breast:	n/a
17	chr19:22320975-22321025	ProgFib	skin:	n/a
18	chr19:22320744-22320794	GM12892	blood:	n/a
19	chr19:22319196-22319246	HUVEC	blood vessel:	n/a
20	chr19:22320869-22320919	HEEpiC	esophagus:	n/a
21	chr19:22320744-22320794	NHDF-neo	bronchial:	n/a
22	chr19:22319196-22319246	H1-hESC	embryonic stem cell:	embryo
23	chr19:22319196-22319246	BJ	skin:	n/a
24	chr19:22319196-22319246	GM06990	blood:	n/a
25	chr19:22320744-22320794	LNCaP	prostate:	n/a
26	chr19:22319196-22319246	Jurkat	blood:	n/a
27	chr19:22320744-22320794	IMR90	lung:	fetal
28	chr19:22320869-22320919	HMEC	breast:	n/a
29	chr19:22320869-22320919	T-47D	breast:	n/a
30	chr19:22320744-22320794	AG04449	skin:	fetal
31	chr19:22319196-22319246	NB4	blood:	n/a
32	chr19:22320975-22321025	LNCaP	prostate:	n/a
33	chr19:22318466-22318516	ProgFib	skin:	n/a
34	chr19:22320869-22320919	A549	lung:	n/a
35	chr19:22320975-22321025	AG04449	skin:	fetal
36	chr19:22320744-22320794	RPTEC	kidney:	n/a
37	chr19:22320744-22320794	HCM	heart:	n/a
38	chr19:22320975-22321025	Hela-S3	cervix:	n/a
39	chr19:22320975-22321025	Caco-2	colon:	n/a
40	chr19:22319196-22319246	HIPEpiC	eye:	n/a
41	chr19:22318466-22318516	IMR90	lung:	fetal
42	chr19:22318466-22318516	PFSK-1	brain:	n/a
43	chr19:22318466-22318516	HEK293	kidney:	embryo
44	chr19:22319196-22319246	PANC-1	pancreas:	n/a
45	chr19:22320975-22321025	HL-60	blood:	n/a
46	chr19:22320975-22321025	GM19239	blood:	n/a
47	chr19:22319196-22319246	AG09319	gingival:	n/a
48	chr19:22320869-22320919	LNCaP	prostate:	n/a
49	chr19:22319196-22319246	AG04450	lung:	fetal
50	chr19:22320975-22321025	SK-N-SH_RA	brain:	n/a

No data

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

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

No data

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

Extended variants
information (count: 157 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190890490	chr19:22311433-22311434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567289720	chr19:22311443-22311444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534721425	chr19:22311455-22311456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs140463838	chr19:22311522-22311523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs371087343	chr19:22311523-22311524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372670798	chr19:22311524-22311525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs199899604	chr19:22311525-22311526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs182329949	chr19:22311537-22311538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs571915474	chr19:22311610-22311611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs187689632	chr19:22311648-22311649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs555567835	chr19:22311659-22311660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs575776422	chr19:22311685-22311686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146990777	chr19:22311704-22311705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs555516853	chr19:22311735-22311736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs573650267	chr19:22311736-22311737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs138098421	chr19:22311748-22311749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs545564209	chr19:22312126-22312127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs370056428	chr19:22312151-22312152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs575052025	chr19:22312601-22312602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs146400349	chr19:22312632-22312633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs560787018	chr19:22312658-22312659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570228447	chr19:22312701-22312702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs114756284	chr19:22312708-22312709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546804368	chr19:22312763-22312764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs139775851	chr19:22312794-22312795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs115315543	chr19:22312815-22312816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs28552094	chr19:22312865-22312866	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368309705	chr19:22312876-22312877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192190241	chr19:22312913-22312914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536987238	chr19:22312916-22312917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs548797198	chr19:22312976-22312977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567099151	chr19:22312991-22312992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs534701453	chr19:22313009-22313010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs566281172	chr19:22313036-22313037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577539444	chr19:22313081-22313082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs538261810	chr19:22313100-22313101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs115025511	chr19:22315313-22315314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs566268830	chr19:22315334-22315335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs566399925	chr19:22315335-22315336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373641887	chr19:22315360-22315361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4244914	chr19:22315389-22315390	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187132537	chr19:22315406-22315407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561984147	chr19:22315520-22315521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145291859	chr19:22315651-22315652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558126452	chr19:22316054-22316055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73021832	chr19:22316144-22316145	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs200937084	chr19:22316174-22316175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543752854	chr19:22316179-22316180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555525172	chr19:22316184-22316185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541647817	chr19:22316185-22316186	ZNF genes & repeats	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22316000-22316600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:22317600-22319000	ZNF genes & repeats	Liver	Liver
3	chr19:22317800-22318400	Active TSS	Fetal Heart	heart

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