Variant report

Variant	nsv911446
Chromosome Location	chr19:22529565-22581828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:22544504-22544653	GM12878	blood:	n/a	n/a
2	CEBPB	chr19:22531229-22532187	A549	lung:	n/a	n/a
3	CEBPB	chr19:22529203-22529641	A549	lung:	n/a	n/a
4	CEBPB	chr19:22532395-22532629	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:22531346-22532181	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:22529144-22529669	HepG2	liver:	n/a	n/a
7	CTCF	chr19:22569658-22569731	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr19:22564197-22564325	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr19:22569844-22569869	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr19:22581742-22581801	GM13976	blood:	n/a	n/a
11	CTCF	chr19:22567920-22567967	GM13976	blood:	n/a	n/a
12	JUN	chr19:22531654-22531817	HepG2	liver:	n/a	n/a
13	JUND	chr19:22531647-22531886	HepG2	liver:	n/a	n/a
14	MAFF	chr19:22547400-22547600	K562	blood:	n/a	chr19:22547482-22547500
15	MAFF	chr19:22547331-22547634	HepG2	liver:	n/a	chr19:22547482-22547500
16	MAFK	chr19:22556479-22556577	HepG2	liver:	n/a	n/a
17	MAFK	chr19:22547319-22547673	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
18	MAFK	chr19:22547422-22547497	Hela-S3	cervix:	n/a	n/a
19	MAFK	chr19:22547348-22547588	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
20	MAFK	chr19:22557327-22557422	HepG2	liver:	n/a	chr19:22557352-22557363 chr19:22557352-22557363 chr19:22557351-22557362 chr19:22557351-22557362
21	MAFK	chr19:22547333-22547634	IMR90	lung:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
22	MXI1	chr19:22557638-22557654	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:22571147-22571153	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:22537705-22537712	A549	lung:	n/a	n/a
25	POLR2A	chr19:22581232-22581255	A549	lung:	n/a	n/a
26	POLR2A	chr19:22537617-22537634	A549	lung:	n/a	n/a
27	POLR2A	chr19:22537733-22537793	A549	lung:	n/a	n/a
28	POLR2A	chr19:22581292-22581365	A549	lung:	n/a	n/a
29	POLR2A	chr19:22581258-22581280	A549	lung:	n/a	n/a
30	POLR2A	chr19:22553176-22553349	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr19:22533011-22533012	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr19:22550661-22550795	K562	blood:	n/a	n/a
33	POLR2A	chr19:22550255-22550455	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr19:22567726-22567880	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:22537507-22537601	A549	lung:	n/a	n/a
36	POLR2A	chr19:22537641-22537665	A549	lung:	n/a	n/a
37	POLR2A	chr19:22549641-22549655	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:22577784-22577903	A549	lung:	n/a	n/a
39	RAD21	chr19:22529556-22529635	H1-hESC	embryonic stem cell:	n/a	n/a
40	SPI1	chr19:22538289-22538494	GM12891	blood:	n/a	n/a
41	SPI1	chr19:22538258-22538438	GM12878	blood:	n/a	n/a
42	ZNF274	chr19:22574946-22574982	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF729-4	chr19:22545391-22545627	NONHSAT063784
2	lnc-ZNF729-3	chr19:22534271-22534424	NONHSAT063783
3	lnc-ZNF729-3	chr19:22531817-22532082	NONHSAT063783

Variant related genes	Relation type
RPL34P34	TF binding region
ENSG00000268685	TF binding region

Extended variants
information (count: 484 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:484 , 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	rs7247584	chr19:22529565-22529566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370981978	chr19:22529572-22529573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375186601	chr19:22529599-22529600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs75653577	chr19:22529602-22529603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544983275	chr19:22529615-22529616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374912751	chr19:22529618-22529619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs570705321	chr19:22529634-22529635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373744325	chr19:22529660-22529661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376762166	chr19:22529663-22529664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375182827	chr19:22529701-22529702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201842023	chr19:22529704-22529705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112879507	chr19:22529708-22529709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192827246	chr19:22529716-22529717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372409467	chr19:22529722-22529723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75822290	chr19:22529726-22529727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184505839	chr19:22529749-22529750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559159697	chr19:22529766-22529767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140195384	chr19:22529804-22529805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572783733	chr19:22529837-22529838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10405452	chr19:22529868-22529869	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565220067	chr19:22529869-22529870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577219996	chr19:22529871-22529872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371730984	chr19:22529872-22529873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544375518	chr19:22529893-22529894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75508130	chr19:22529902-22529903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376423066	chr19:22529919-22529920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370114240	chr19:22529927-22529928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372147393	chr19:22529933-22529934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530177855	chr19:22529940-22529941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112309571	chr19:22530030-22530031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548431020	chr19:22530031-22530032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560518096	chr19:22530054-22530055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143922895	chr19:22530107-22530108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189644898	chr19:22530109-22530110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146867776	chr19:22530125-22530126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs58636168	chr19:22530129-22530130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549933734	chr19:22530170-22530171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181844214	chr19:22530172-22530173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149310086	chr19:22531839-22531840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs115906663	chr19:22531851-22531852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs541969471	chr19:22531864-22531865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs60763010	chr19:22531898-22531899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs116270195	chr19:22531917-22531918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs75921219	chr19:22531923-22531924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs73923841	chr19:22531995-22531996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189457593	chr19:22532023-22532024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs2163845	chr19:22532053-22532054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552316678	chr19:22533808-22533809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73027904	chr19:22533823-22533824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139894287	chr19:22533861-22533862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22529000-22530200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:22529000-22530200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:22529200-22529800	ZNF genes & repeats	Pancreas	Pancrea
4	chr19:22533800-22534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:22537600-22538000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:22554800-22555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:22572600-22573000	Weak transcription	Pancreas	Pancrea
8	chr19:22573000-22573400	ZNF genes & repeats	Pancreas	Pancrea
9	chr19:22573400-22577400	Weak transcription	Pancreas	Pancrea
10	chr19:22577400-22577600	ZNF genes & repeats	Pancreas	Pancrea
11	chr19:22577600-22577800	Weak transcription	Pancreas	Pancrea
12	chr19:22579600-22582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links