Variant report

Variant	nsv960940
Chromosome Location	chr19:22807423-22815787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:22811160-22811179	A549	lung:	n/a	n/a
2	CEBPB	chr19:22811067-22811267	HepG2	liver:	n/a	n/a
3	GATA3	chr19:22808383-22808571	SH-SY5Y	brain:	n/a	chr19:22808534-22808544 chr19:22808534-22808543
4	MYC	chr19:22811412-22811540	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr19:22810784-22810921	NB4	blood:	n/a	n/a
6	MYC	chr19:22811387-22811406	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:22808350-22808375	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:22811440-22811443	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:22811457-22811470	MCF-7	breast:	n/a	n/a
10	TBL1XR1	chr19:22814351-22814411	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22809024-22809074	LNCaP	prostate:	n/a
2	chr19:22809024-22809074	NT2-D1	testis:	n/a
3	chr19:22809024-22809074	NB4	blood:	n/a
4	chr19:22809024-22809074	NHDF-neo	bronchial:	n/a
5	chr19:22809024-22809074	SK-N-SH_RA	brain:	n/a
6	chr19:22809024-22809074	BJ	skin:	n/a
7	chr19:22809024-22809074	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:22809024-22809074	SKMC	muscle:	n/a
9	chr19:22809024-22809074	AG04450	lung:	fetal
10	chr19:22809024-22809074	RPTEC	kidney:	n/a
11	chr19:22809024-22809074	ovcar-3	ovarian:	n/a
12	chr19:22809024-22809074	BE2_C	brain:	n/a
13	chr19:22809024-22809074	PrEC	prostate:	n/a
14	chr19:22809024-22809074	SK-N-SH	brain:	n/a
15	chr19:22809024-22809074	GM06990	blood:	n/a
16	chr19:22809024-22809074	PFSK-1	brain:	n/a
17	chr19:22809024-22809074	HRE	kidney:	n/a
18	chr19:22809024-22809074	GM12878	blood:	n/a
19	chr19:22809024-22809074	AG09309	skin:	n/a
20	chr19:22809024-22809074	HRCEpiC	kidney:	n/a
21	chr19:22809024-22809074	A549	lung:	n/a
22	chr19:22809024-22809074	HCM	heart:	n/a
23	chr19:22809024-22809074	K562	blood:	n/a
24	chr19:22809024-22809074	HRPEpiC	eye:	n/a
25	chr19:22809024-22809074	U87	brain:	n/a
26	chr19:22809024-22809074	HCF	heart:	n/a
27	chr19:22809024-22809074	HEK293	kidney:	embryo
28	chr19:22809024-22809074	AoSMC	blood vessel:	n/a
29	chr19:22809024-22809074	HEEpiC	esophagus:	n/a
30	chr19:22809024-22809074	Hela-S3	cervix:	n/a
31	chr19:22809024-22809074	H1-hESC	embryonic stem cell:	embryo
32	chr19:22809024-22809074	HCPEpiC	choroid plexus:	n/a
33	chr19:22809024-22809074	SAEC	small airway:	n/a
34	chr19:22809024-22809074	MCF10A-Er-Src	breast:	n/a
35	chr19:22809024-22809074	T-47D	breast:	n/a
36	chr19:22809024-22809074	HMEC	breast:	n/a
37	chr19:22809024-22809074	ECC-1	luminal epithelium:	n/a
38	chr19:22809024-22809074	HAEpiC	amniotic membrane:	n/a
39	chr19:22809024-22809074	GM19239	blood:	n/a
40	chr19:22809024-22809074	CMK	blood:	n/a
41	chr19:22809024-22809074	HIPEpiC	eye:	n/a
42	chr19:22809024-22809074	NH-A	brain:	n/a
43	chr19:22809024-22809074	Caco-2	colon:	n/a
44	chr19:22809024-22809074	MCF-7	breast:	n/a
45	chr19:22809024-22809074	Jurkat	blood:	n/a
46	chr19:22809024-22809074	AG04449	skin:	fetal
47	chr19:22809024-22809074	NHBE	bronchial:	n/a
48	chr19:22809024-22809074	AG09319	gingival:	n/a
49	chr19:22809024-22809074	AG10803	skin:	n/a
50	chr19:22809024-22809074	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000268038	TF binding region
ZNF492	TF binding region
ENSG00000268038	CpG island
ZNF492	CpG island

Extended variants
information (count: 278 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76800751	chr19:22807457-22807458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559389583	chr19:22807464-22807465	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142149203	chr19:22807505-22807506	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183438127	chr19:22807514-22807515	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562911157	chr19:22807518-22807519	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150750451	chr19:22807548-22807549	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548819070	chr19:22807555-22807556	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560795367	chr19:22807563-22807564	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528263271	chr19:22807565-22807566	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546814627	chr19:22807566-22807567	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115851885	chr19:22807582-22807583	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78857442	chr19:22807660-22807661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538732286	chr19:22807690-22807691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187932799	chr19:22807691-22807692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193161869	chr19:22807705-22807706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569232131	chr19:22807708-22807709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79326991	chr19:22807716-22807717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368992358	chr19:22807723-22807724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377446997	chr19:22807764-22807765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375298942	chr19:22807780-22807781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555295897	chr19:22807831-22807832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573516806	chr19:22807891-22807892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111906382	chr19:22807915-22807916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182716764	chr19:22807918-22807919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577688522	chr19:22807922-22807923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544739533	chr19:22807929-22807930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372337537	chr19:22807957-22807958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375550867	chr19:22807981-22807982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529082948	chr19:22808028-22808029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139067202	chr19:22808100-22808101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187824170	chr19:22808138-22808139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11085539	chr19:22808147-22808148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369340838	chr19:22808156-22808157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192649010	chr19:22808188-22808189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377207659	chr19:22808208-22808209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113775248	chr19:22808227-22808228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10417852	chr19:22808247-22808248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114702911	chr19:22808257-22808258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370052059	chr19:22808278-22808279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532646383	chr19:22808282-22808283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10418066	chr19:22808291-22808292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569317415	chr19:22808292-22808293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112795153	chr19:22808320-22808321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8108802	chr19:22808331-22808332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs8108808	chr19:22808356-22808357	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs8111552	chr19:22808370-22808371	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs141475522	chr19:22808396-22808397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570911061	chr19:22808398-22808399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373258669	chr19:22808401-22808402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10423416	chr19:22808405-22808406	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22806400-22807600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:22806400-22807800	Enhancers	Ovary	ovary
3	chr19:22806800-22808600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:22808600-22808800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:22811200-22811400	ZNF genes & repeats	Spleen	Spleen
6	chr19:22811400-22817200	Weak transcription	Spleen	Spleen
7	chr19:22815400-22815600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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