Variant report

Variant	nsv963030
Chromosome Location	chr19:23015492-23032064
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	chr19:23024786-23024905	A549	lung:	n/a	chr19:23024862-23024873
2	CEBPB	chr19:23024815-23025038	HepG2	liver:	n/a	chr19:23024862-23024873
3	CEBPB	chr19:23024689-23025038	IMR90	lung:	n/a	chr19:23024862-23024873
4	POLR2A	chr19:23014908-23015558	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:23024341-23024361	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr19:23019255-23019275	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr19:23016920-23016954	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF99-3	chr19:23023234-23023723	NONHSAT063824
2	lnc-AC011467.1-5	chr19:23031998-23032095	NONHSAT063825

Variant related genes	Relation type
ENSG00000271655	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554018820	chr19:23015574-23015575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184472225	chr19:23015600-23015601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563391562	chr19:23023262-23023263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs577513785	chr19:23023277-23023278	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568160445	chr19:23023292-23023293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs370590209	chr19:23023295-23023296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529112067	chr19:23023304-23023305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535157706	chr19:23023306-23023307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs77848191	chr19:23023348-23023349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs547272951	chr19:23023405-23023406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12983267	chr19:23023444-23023445	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377462711	chr19:23023489-23023490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs539019403	chr19:23023563-23023564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs73924707	chr19:23023572-23023573	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569690373	chr19:23023579-23023580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs371197396	chr19:23023607-23023608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192198815	chr19:23023611-23023612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs12983770	chr19:23023614-23023615	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541630650	chr19:23023648-23023649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553676849	chr19:23023664-23023665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs3919873	chr19:23023681-23023682	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141178300	chr19:23023696-23023697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111248325	chr19:23023706-23023707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563664184	chr19:23023708-23023709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs530843651	chr19:23024697-23024698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549051605	chr19:23024699-23024700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113753195	chr19:23024705-23024706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs180981745	chr19:23024729-23024730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566575614	chr19:23024773-23024774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs150698438	chr19:23024804-23024805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368399116	chr19:23024805-23024806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs59309724	chr19:23024824-23024825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560938938	chr19:23024843-23024844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528123976	chr19:23024852-23024853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12977975	chr19:23024900-23024901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555112122	chr19:23024910-23024911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568521550	chr19:23024979-23024980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs139807817	chr19:23024982-23024983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571379113	chr19:23025035-23025036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186722169	chr19:23032002-23032003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs75390133	chr19:23032007-23032008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs73924714	chr19:23032052-23032053	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:47)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23015000-23015600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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