Variant report

Variant	nsv442457
Chromosome Location	chr19:22533518-22567144
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	CTCF	chr19:22564197-22564325	Kidney_OC	kidney:	n/a	n/a
3	MAFF	chr19:22547400-22547600	K562	blood:	n/a	chr19:22547482-22547500
4	MAFF	chr19:22547331-22547634	HepG2	liver:	n/a	chr19:22547482-22547500
5	MAFK	chr19:22557327-22557422	HepG2	liver:	n/a	chr19:22557352-22557363 chr19:22557352-22557363 chr19:22557351-22557362 chr19:22557351-22557362
6	MAFK	chr19:22547319-22547673	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
7	MAFK	chr19:22547348-22547588	HepG2	liver:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
8	MAFK	chr19:22547422-22547497	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr19:22556479-22556577	HepG2	liver:	n/a	n/a
10	MAFK	chr19:22547333-22547634	IMR90	lung:	n/a	chr19:22547529-22547540 chr19:22547485-22547505
11	MXI1	chr19:22557638-22557654	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:22550255-22550455	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr19:22537641-22537665	A549	lung:	n/a	n/a
14	POLR2A	chr19:22550661-22550795	K562	blood:	n/a	n/a
15	POLR2A	chr19:22537507-22537601	A549	lung:	n/a	n/a
16	POLR2A	chr19:22553176-22553349	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr19:22537705-22537712	A549	lung:	n/a	n/a
18	POLR2A	chr19:22537617-22537634	A549	lung:	n/a	n/a
19	POLR2A	chr19:22537733-22537793	A549	lung:	n/a	n/a
20	POLR2A	chr19:22549641-22549655	GM12878	blood:	n/a	n/a
21	SPI1	chr19:22538289-22538494	GM12891	blood:	n/a	n/a
22	SPI1	chr19:22538258-22538438	GM12878	blood:	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

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

Extended variants
information (count: 91 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552316678	chr19:22533808-22533809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73027904	chr19:22533823-22533824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139894287	chr19:22533861-22533862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374264177	chr19:22533899-22533900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556823028	chr19:22533924-22533925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186006183	chr19:22533950-22533951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535830584	chr19:22533956-22533957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554552498	chr19:22534044-22534045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573146611	chr19:22534110-22534111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562313833	chr19:22534136-22534137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540568331	chr19:22534206-22534207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558763189	chr19:22534264-22534265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139968552	chr19:22534306-22534307	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544684947	chr19:22534319-22534320	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562802320	chr19:22534337-22534338	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530216258	chr19:22534340-22534341	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541832362	chr19:22534341-22534342	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs190373748	chr19:22534347-22534348	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs527960650	chr19:22534357-22534358	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551521555	chr19:22537625-22537626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563373459	chr19:22537633-22537634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35595899	chr19:22537655-22537656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139696526	chr19:22537678-22537679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549547953	chr19:22537702-22537703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111346530	chr19:22537708-22537709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149759487	chr19:22537723-22537724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78208626	chr19:22537750-22537751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547018114	chr19:22537781-22537782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571940635	chr19:22537806-22537807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115897479	chr19:22537828-22537829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7259586	chr19:22537862-22537863	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575776391	chr19:22537867-22537868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537146539	chr19:22537914-22537915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs141101802	chr19:22537934-22537935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375242661	chr19:22537937-22537938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368575146	chr19:22544578-22544579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542855533	chr19:22544590-22544591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561321778	chr19:22544595-22544596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573311742	chr19:22544629-22544630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570576824	chr19:22545401-22545402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs117584733	chr19:22545444-22545445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539077237	chr19:22545448-22545449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113176625	chr19:22545460-22545461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148666518	chr19:22545471-22545472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs373980608	chr19:22545527-22545528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs558962006	chr19:22545539-22545540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs577288198	chr19:22545563-22545564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs142141096	chr19:22545611-22545612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189250544	chr19:22553201-22553202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540161780	chr19:22553212-22553213	Inactive region	TF binding region	1 gene(s)	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22533800-22534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:22537600-22538000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:22554800-22555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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