Variant report

Variant	nsv960816
Chromosome Location	chr19:22881041-22891636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22882353-22882495	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr19:22882373-22882427	GM20000	blood:	n/a	n/a
3	IRF1	chr19:22890513-22890526	K562	blood:	n/a	n/a
4	MAFF	chr19:22880975-22881173	HepG2	liver:	n/a	chr19:22881036-22881054
5	MAFK	chr19:22890431-22890623	HepG2	liver:	n/a	n/a
6	MAFK	chr19:22880998-22881119	HepG2	liver:	n/a	chr19:22881038-22881049 chr19:22881038-22881053 chr19:22881038-22881049 chr19:22881038-22881054 chr19:22881039-22881050
7	MAFK	chr19:22880914-22881228	HepG2	liver:	n/a	chr19:22881038-22881049 chr19:22881038-22881053 chr19:22881038-22881049 chr19:22881038-22881054 chr19:22881039-22881050
8	MAFK	chr19:22880983-22881137	IMR90	lung:	n/a	chr19:22881038-22881049 chr19:22881038-22881053 chr19:22881038-22881049 chr19:22881038-22881054 chr19:22881039-22881050
9	NR2F2	chr19:22882704-22882978	K562	blood:	n/a	n/a
10	PAX5	chr19:22886323-22886642	GM12878	blood:	n/a	n/a
11	PAX5	chr19:22883737-22883971	GM12878	blood:	n/a	n/a
12	PAX5	chr19:22886382-22886597	GM12878	blood:	n/a	n/a
13	PAX5	chr19:22886302-22886661	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:22888207-22888331	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:22886531-22886627	A549	lung:	n/a	n/a
16	POLR2A	chr19:22886499-22886640	H1-hESC	embryonic stem cell:	n/a	n/a
17	RCOR1	chr19:22881256-22881277	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22888276-22888326	H1-hESC	embryonic stem cell:	embryo
2	chr19:22888276-22888326	HMEC	breast:	n/a
3	chr19:22888276-22888326	HCPEpiC	choroid plexus:	n/a
4	chr19:22888276-22888326	Jurkat	blood:	n/a
5	chr19:22888276-22888326	IMR90	lung:	fetal
6	chr19:22888276-22888326	AG09309	skin:	n/a
7	chr19:22888276-22888326	PANC-1	pancreas:	n/a
8	chr19:22888276-22888326	RPTEC	kidney:	n/a
9	chr19:22888276-22888326	MCF10A-Er-Src	breast:	n/a
10	chr19:22888276-22888326	SK-N-SH_RA	brain:	n/a
11	chr19:22888276-22888326	HUVEC	blood vessel:	n/a
12	chr19:22888276-22888326	K562	blood:	n/a
13	chr19:22888276-22888326	SAEC	small airway:	n/a
14	chr19:22888276-22888326	GM12892	blood:	n/a
15	chr19:22888276-22888326	Caco-2	colon:	n/a
16	chr19:22888276-22888326	PFSK-1	brain:	n/a
17	chr19:22888276-22888326	ECC-1	luminal epithelium:	n/a
18	chr19:22888276-22888326	PrEC	prostate:	n/a
19	chr19:22888276-22888326	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:22888276-22888326	GM19239	blood:	n/a
21	chr19:22888276-22888326	LNCaP	prostate:	n/a
22	chr19:22888276-22888326	HCT-116	colon:	n/a
23	chr19:22888276-22888326	HEK293	kidney:	embryo
24	chr19:22888276-22888326	HIPEpiC	eye:	n/a
25	chr19:22888276-22888326	HCM	heart:	n/a
26	chr19:22888276-22888326	T-47D	breast:	n/a
27	chr19:22888276-22888326	NHDF-neo	bronchial:	n/a
28	chr19:22888276-22888326	HRPEpiC	eye:	n/a
29	chr19:22888276-22888326	NHBE	bronchial:	n/a
30	chr19:22888276-22888326	SKMC	muscle:	n/a
31	chr19:22888276-22888326	GM06990	blood:	n/a
32	chr19:22888276-22888326	Hela-S3	cervix:	n/a
33	chr19:22888276-22888326	AG10803	skin:	n/a
34	chr19:22888276-22888326	SK-N-SH	brain:	n/a
35	chr19:22888276-22888326	AG09319	gingival:	n/a
36	chr19:22888276-22888326	HNPCEpiC	eye:	n/a
37	chr19:22888276-22888326	ProgFib	skin:	n/a
38	chr19:22888276-22888326	U87	brain:	n/a
39	chr19:22888276-22888326	GM12878	blood:	n/a
40	chr19:22888276-22888326	NH-A	brain:	n/a
41	chr19:22888276-22888326	HRE	kidney:	n/a
42	chr19:22888276-22888326	GM12891	blood:	n/a
43	chr19:22888276-22888326	BJ	skin:	n/a
44	chr19:22888276-22888326	SK-N-MC	brain:	n/a
45	chr19:22888276-22888326	Hepatocyte	liver:	n/a
46	chr19:22888276-22888326	NB4	blood:	n/a
47	chr19:22888276-22888326	AoSMC	blood vessel:	n/a
48	chr19:22888276-22888326	NT2-D1	testis:	n/a
49	chr19:22888276-22888326	HepG2	liver:	n/a
50	chr19:22888276-22888326	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC024563.1-6	chr19:22880922-22881173	ENSG00000268981.1
2	lnc-AC011467.1-2	chr19:22882154-22882487	NONHSAT063816

No data

Variant related genes	Relation type
RPL34P33	TF binding region
RPL34P33	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555745241	chr19:22881089-22881090	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs7257236	chr19:22881101-22881102	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184787314	chr19:22881120-22881121	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs187067719	chr19:22881145-22881146	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs7257333	chr19:22881149-22881150	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs7257255	chr19:22881156-22881157	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs7257327	chr19:22881179-22881180	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73924939	chr19:22881191-22881192	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543136444	chr19:22881199-22881200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs192228887	chr19:22881225-22881226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545330482	chr19:22882164-22882165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs563447910	chr19:22882177-22882178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs7246424	chr19:22882185-22882186	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs115025383	chr19:22882189-22882190	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs368531704	chr19:22882202-22882203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs560716321	chr19:22882208-22882209	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs571589584	chr19:22882223-22882224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs528598343	chr19:22882238-22882239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs73924942	chr19:22882242-22882243	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148588684	chr19:22882279-22882280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs386807989	chr19:22882289-22882290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7246551	chr19:22882290-22882291	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560980136	chr19:22882313-22882314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs550911482	chr19:22882315-22882316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs569452478	chr19:22882328-22882329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs7249685	chr19:22882379-22882380	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555216224	chr19:22882411-22882412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs573456663	chr19:22882414-22882415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186453756	chr19:22882425-22882426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs145821988	chr19:22882426-22882427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528441459	chr19:22883609-22883610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142469091	chr19:22883612-22883613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs71357920	chr19:22883615-22883616	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62120334	chr19:22883617-22883618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572470305	chr19:22883627-22883628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11672120	chr19:22883652-22883653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564812363	chr19:22883664-22883665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372723598	chr19:22883666-22883667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77577529	chr19:22883671-22883672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113750774	chr19:22883683-22883684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371203507	chr19:22883686-22883687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34057949	chr19:22883687-22883688	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs529771634	chr19:22883689-22883690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547858741	chr19:22883692-22883693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs547990113	chr19:22883703-22883704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533770684	chr19:22883732-22883733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs150209611	chr19:22883740-22883741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376269736	chr19:22883768-22883769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570726003	chr19:22883772-22883773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs565776109	chr19:22883799-22883800	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22883600-22884000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:22891600-22892200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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