Variant report

Variant	nsv978797
Chromosome Location	chr19:23776822-23782058
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	CEBPB	chr19:23778499-23778754	A549	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
2	CEBPB	chr19:23778495-23778758	H1-hESC	embryonic stem cell:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
3	CEBPB	chr19:23778421-23778797	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
4	CEBPB	chr19:23778491-23778833	Hela-S3	cervix:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
5	CEBPB	chr19:23778511-23778820	K562	blood:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
6	CEBPB	chr19:23778468-23778821	ECC-1	luminal epithelium:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
7	CEBPB	chr19:23778501-23778821	IMR90	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
8	CEBPB	chr19:23778383-23778813	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
9	CEBPB	chr19:23778546-23778776	HepG2	liver:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
10	FOSL2	chr19:23780188-23780412	HepG2	liver:	n/a	n/a
11	GABPA	chr19:23780267-23780405	GM12878	blood:	n/a	n/a
12	GATA3	chr19:23778508-23778750	T-47D	breast:	n/a	n/a
13	GATA3	chr19:23778449-23778791	T-47D	breast:	n/a	n/a
14	GATA3	chr19:23778369-23778847	MCF-7	breast:	n/a	n/a
15	HEY1	chr19:23780183-23780427	K562	blood:	n/a	n/a
16	PAX5	chr19:23777016-23777334	GM12878	blood:	n/a	n/a
17	PAX5	chr19:23776986-23777355	GM12878	blood:	n/a	n/a
18	PAX5	chr19:23777018-23777255	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:23780084-23780435	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:23780078-23780490	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:23780007-23780456	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:23777854-23778020	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:23779120-23779244	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr19:23777901-23778043	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:23779447-23779647	K562	blood:	n/a	n/a
26	REST	chr19:23777886-23778025	H1-hESC	embryonic stem cell:	n/a	n/a
27	RXRA	chr19:23777881-23778032	HepG2	liver:	n/a	n/a
28	SP1	chr19:23777832-23778073	HepG2	liver:	n/a	n/a
29	SPI1	chr19:23780231-23780403	K562	blood:	n/a	n/a
30	ZBTB33	chr19:23777870-23778048	HepG2	liver:	n/a	n/a
31	ZBTB33	chr19:23780049-23780453	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-6	chr19:23780143-23780394	NONHSAT063929

Variant related genes	Relation type
ENSG00000268455	TF binding region
VN1R93P	TF binding region
RPS27P29	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs546729198	chr19:23776988-23776989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs571363910	chr19:23776999-23777000	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs139202419	chr19:23777003-23777004	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs556777944	chr19:23777008-23777009	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs535828960	chr19:23777009-23777010	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs554157707	chr19:23777010-23777011	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs141740218	chr19:23777012-23777013	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs370398120	chr19:23777014-23777015	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs373840568	chr19:23777086-23777087	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs577355277	chr19:23777107-23777108	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs544833930	chr19:23777119-23777120	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs150468431	chr19:23777137-23777138	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs181815478	chr19:23777195-23777196	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs543359377	chr19:23777205-23777206	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs367693091	chr19:23777221-23777222	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs548576799	chr19:23777222-23777223	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs560491585	chr19:23777237-23777238	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs528355994	chr19:23777242-23777243	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs187418625	chr19:23777251-23777252	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs571565505	chr19:23777284-23777285	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs372308562	chr19:23777294-23777295	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs538433910	chr19:23777307-23777308	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs550786266	chr19:23777336-23777337	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs568577791	chr19:23777338-23777339	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs535962887	chr19:23777354-23777355	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs566425794	chr19:23777838-23777839	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs559084155	chr19:23777847-23777848	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs185363448	chr19:23777857-23777858	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs527406388	chr19:23777864-23777865	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs12974087	chr19:23777870-23777871	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs551842882	chr19:23777885-23777886	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs570438192	chr19:23777903-23777904	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs537485802	chr19:23777906-23777907	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs142606481	chr19:23777920-23777921	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs34230688	chr19:23777923-23777924	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12974802	chr19:23777932-23777933	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs12974146	chr19:23777938-23777939	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs139604904	chr19:23777948-23777949	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs554422314	chr19:23777953-23777954	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs572419849	chr19:23777985-23777986	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs546281446	chr19:23777986-23777987	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs557825724	chr19:23777997-23777998	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs556548509	chr19:23777998-23777999	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs576373769	chr19:23778002-23778003	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs189727738	chr19:23778050-23778051	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs12974619	chr19:23778069-23778070	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs12975279	chr19:23778070-23778071	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs191744164	chr19:23778389-23778390	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs373881275	chr19:23778406-23778407	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs566647489	chr19:23778465-23778466	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23778600-23779600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr19:23779600-23780800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:23780000-23780600	Enhancers	Placenta	Placenta
4	chr19:23780600-23781000	Weak transcription	Placenta	Placenta
5	chr19:23780800-23781400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr19:23781000-23781400	Enhancers	Placenta	Placenta

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