Variant report

Variant	nsv1057237
Chromosome Location	chr19:21053665-21104492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:21100025-21100133	Lung_OC	lung:	n/a	n/a
2	CTCF	chr19:21061680-21061830	GM12866	blood:	n/a	n/a
3	CTCF	chr19:21096180-21096330	GM12867	blood:	n/a	n/a
4	MAFF	chr19:21102294-21102538	HepG2	liver:	n/a	chr19:21102403-21102421
5	MAFF	chr19:21102317-21102443	K562	blood:	n/a	chr19:21102403-21102421
6	MAFK	chr19:21103684-21103738	HepG2	liver:	n/a	n/a
7	MAFK	chr19:21102303-21102546	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
8	MAFK	chr19:21102247-21102554	HepG2	liver:	n/a	chr19:21102404-21102420 chr19:21102407-21102421 chr19:21102404-21102419
9	MAX	chr19:21054056-21054095	NB4	blood:	n/a	n/a
10	MYC	chr19:21071038-21071245	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr19:21074202-21074277	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr19:21096511-21096630	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr19:21084283-21084359	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr19:21072307-21072364	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr19:21075450-21075519	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:21071511-21071549	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:21056465-21056537	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:21056773-21056954	K562	blood:	n/a	n/a
19	POLR2A	chr19:21098700-21098816	K562	blood:	n/a	n/a
20	POLR2A	chr19:21059143-21059272	K562	blood:	n/a	n/a
21	SUZ12	chr19:21074741-21075124	H1-hESC	embryonic stem cell:	n/a	n/a
22	SUZ12	chr19:21085885-21086093	H1-hESC	embryonic stem cell:	n/a	n/a
23	SUZ12	chr19:21072744-21073056	H1-hESC	embryonic stem cell:	n/a	n/a
24	SUZ12	chr19:21089244-21089666	H1-hESC	embryonic stem cell:	n/a	n/a
25	SUZ12	chr19:21062615-21062937	H1-hESC	embryonic stem cell:	n/a	n/a
26	SUZ12	chr19:21054052-21054366	H1-hESC	embryonic stem cell:	n/a	n/a
27	SUZ12	chr19:21083687-21084065	H1-hESC	embryonic stem cell:	n/a	n/a
28	SUZ12	chr19:21060285-21060576	H1-hESC	embryonic stem cell:	n/a	n/a
29	SUZ12	chr19:21057738-21058153	H1-hESC	embryonic stem cell:	n/a	n/a
30	SUZ12	chr19:21063540-21063970	H1-hESC	embryonic stem cell:	n/a	n/a
31	SUZ12	chr19:21080215-21081324	H1-hESC	embryonic stem cell:	n/a	n/a
32	SUZ12	chr19:21091206-21091848	H1-hESC	embryonic stem cell:	n/a	n/a
33	SUZ12	chr19:21066859-21067210	H1-hESC	embryonic stem cell:	n/a	n/a
34	SUZ12	chr19:21082568-21082867	H1-hESC	embryonic stem cell:	n/a	n/a
35	SUZ12	chr19:21092307-21092750	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF2	chr19:21093052-21093109	HepG2	liver:	n/a	n/a
37	WRNIP1	chr19:21081030-21081128	GM12878	blood:	n/a	n/a
38	WRNIP1	chr19:21060994-21061055	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:
2	chr19:21097861..21100856-chr19:21103633..21106940,3	MCF-7	breast:
3	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF85	TF binding region
ENSG00000105750	chromatin interactions

Extended variants
information (count: 2209 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2209 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17679966	chr19:21053665-21053666	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566293276	chr19:21053820-21053821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535092897	chr19:21053845-21053846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555128219	chr19:21053867-21053868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142644632	chr19:21053879-21053880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537492452	chr19:21053893-21053894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549990027	chr19:21053904-21053905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556970049	chr19:21053917-21053918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186843217	chr19:21053924-21053925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569733983	chr19:21053937-21053938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538462337	chr19:21053946-21053947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577018420	chr19:21053954-21053955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545700732	chr19:21053955-21053956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559096594	chr19:21053956-21053957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190887680	chr19:21053977-21053978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541510957	chr19:21053981-21053982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561864019	chr19:21053991-21053992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs151015284	chr19:21054005-21054006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550503411	chr19:21054035-21054036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183396178	chr19:21054054-21054055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532821254	chr19:21054118-21054119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552924176	chr19:21054131-21054132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558445967	chr19:21054141-21054142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62123199	chr19:21054155-21054156	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs372930511	chr19:21054156-21054157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548691416	chr19:21054223-21054224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62123200	chr19:21054227-21054228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140810350	chr19:21054238-21054239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62123201	chr19:21054276-21054277	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs373315240	chr19:21054305-21054306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577181987	chr19:21054306-21054307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557829214	chr19:21054314-21054315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577759849	chr19:21054317-21054318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377505588	chr19:21054321-21054322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572694993	chr19:21054324-21054325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62123202	chr19:21054325-21054326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs561737944	chr19:21054335-21054336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186604291	chr19:21054344-21054345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543988750	chr19:21054380-21054381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114138395	chr19:21054383-21054384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114581441	chr19:21054406-21054407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552887195	chr19:21054429-21054430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560129923	chr19:21054450-21054451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533890046	chr19:21054455-21054456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528693687	chr19:21054472-21054473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115160882	chr19:21054473-21054474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs17679977	chr19:21054492-21054493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs17618068	chr19:21054497-21054498	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs150148887	chr19:21054517-21054518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576733367	chr19:21054587-21054588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
7	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:21085800-21086200	ZNF genes & repeats	Pancreas	Pancrea
14	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
15	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
17	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
18	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
19	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
20	chr19:21090400-21091000	Active TSS	Fetal Heart	heart
21	chr19:21091800-21094000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr19:21093600-21097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:21103400-21106000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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