Variant report

Variant	nsv978791
Chromosome Location	chr19:22321259-22325577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
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	CTCF	chr19:22322395-22322424	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr19:22323766-22323791	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:22323184-22323240	ProgFib	skin:	n/a	n/a
4	CTCF	chr19:22323327-22323369	Fibrobl	skin:	n/a	n/a
5	POLR2A	chr19:22323350-22323440	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:22323108-22323130	A549	lung:	n/a	n/a
7	POLR2A	chr19:22322286-22322341	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:22323195-22323205	A549	lung:	n/a	n/a
9	POLR2A	chr19:22321712-22321794	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr19:22323170-22323191	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22323107-22323157	SK-N-MC	brain:	n/a
2	chr19:22321700-22321750	HRE	kidney:	n/a
3	chr19:22323107-22323157	GM06990	blood:	n/a
4	chr19:22321700-22321750	IMR90	lung:	fetal
5	chr19:22323107-22323157	AG10803	skin:	n/a
6	chr19:22321700-22321750	GM12878	blood:	n/a
7	chr19:22323107-22323157	HRPEpiC	eye:	n/a
8	chr19:22321700-22321750	GM12891	blood:	n/a
9	chr19:22323107-22323157	HCPEpiC	choroid plexus:	n/a
10	chr19:22323107-22323157	CMK	blood:	n/a
11	chr19:22321700-22321750	HEK293	kidney:	embryo
12	chr19:22321700-22321750	HNPCEpiC	eye:	n/a
13	chr19:22323107-22323157	HCM	heart:	n/a
14	chr19:22323107-22323157	LNCaP	prostate:	n/a
15	chr19:22321700-22321750	HCPEpiC	choroid plexus:	n/a
16	chr19:22323107-22323157	HMEC	breast:	n/a
17	chr19:22321700-22321750	Hela-S3	cervix:	n/a
18	chr19:22323107-22323157	SK-N-SH_RA	brain:	n/a
19	chr19:22323107-22323157	ovcar-3	ovarian:	n/a
20	chr19:22323107-22323157	NHBE	bronchial:	n/a
21	chr19:22321700-22321750	HCF	heart:	n/a
22	chr19:22323107-22323157	ProgFib	skin:	n/a
23	chr19:22321700-22321750	HIPEpiC	eye:	n/a
24	chr19:22321700-22321750	NHDF-neo	bronchial:	n/a
25	chr19:22321700-22321750	AG09319	gingival:	n/a
26	chr19:22323107-22323157	HIPEpiC	eye:	n/a
27	chr19:22321700-22321750	NT2-D1	testis:	n/a
28	chr19:22321700-22321750	Jurkat	blood:	n/a
29	chr19:22323107-22323157	PANC-1	pancreas:	n/a
30	chr19:22321700-22321750	HepG2	liver:	n/a
31	chr19:22321700-22321750	T-47D	breast:	n/a
32	chr19:22323107-22323157	NB4	blood:	n/a
33	chr19:22321700-22321750	SK-N-SH_RA	brain:	n/a
34	chr19:22321700-22321750	BJ	skin:	n/a
35	chr19:22323107-22323157	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:22321700-22321750	SKMC	muscle:	n/a
37	chr19:22321700-22321750	Hepatocyte	liver:	n/a
38	chr19:22321700-22321750	HCM	heart:	n/a
39	chr19:22321700-22321750	GM12892	blood:	n/a
40	chr19:22321700-22321750	HAEpiC	amniotic membrane:	n/a
41	chr19:22323107-22323157	AG04450	lung:	fetal
42	chr19:22323107-22323157	Jurkat	blood:	n/a
43	chr19:22321700-22321750	ProgFib	skin:	n/a
44	chr19:22323107-22323157	NHDF-neo	bronchial:	n/a
45	chr19:22323107-22323157	HEEpiC	esophagus:	n/a
46	chr19:22321700-22321750	HMEC	breast:	n/a
47	chr19:22323107-22323157	AG09309	skin:	n/a
48	chr19:22321700-22321750	SK-N-SH	brain:	n/a
49	chr19:22321700-22321750	U87	brain:	n/a
50	chr19:22321700-22321750	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000269575	TF binding region
ENSG00000269575	CpG island

Extended variants
information (count: 127 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73934124	chr19:22321722-22321723	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs189861111	chr19:22321728-22321729	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs61997207	chr19:22321744-22321745	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs151208750	chr19:22321767-22321768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535504881	chr19:22321775-22321776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567799457	chr19:22322287-22322288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372878696	chr19:22322311-22322312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185569768	chr19:22322337-22322338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189981247	chr19:22322396-22322397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145451705	chr19:22323004-22323005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549609819	chr19:22323014-22323015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372069875	chr19:22323039-22323040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376724380	chr19:22323041-22323042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528826147	chr19:22323042-22323043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547191609	chr19:22323066-22323067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1865067	chr19:22323069-22323070	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149017336	chr19:22323074-22323075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557912149	chr19:22323093-22323094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371618968	chr19:22323112-22323113	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs573137160	chr19:22323136-22323137	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs80087752	chr19:22323157-22323158	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs376648148	chr19:22323174-22323175	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555496755	chr19:22323230-22323231	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs386807898	chr19:22323247-22323248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191511922	chr19:22323249-22323250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552714392	chr19:22323251-22323252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10426106	chr19:22323268-22323269	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545052952	chr19:22323280-22323281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs143816605	chr19:22323292-22323293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113246191	chr19:22323300-22323301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183664239	chr19:22323303-22323304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143946828	chr19:22323354-22323355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528767805	chr19:22323359-22323360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377009049	chr19:22323374-22323375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544510076	chr19:22323392-22323393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571845089	chr19:22323393-22323394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs532758976	chr19:22323411-22323412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187201334	chr19:22323419-22323420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569642153	chr19:22323452-22323453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537197530	chr19:22323467-22323468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115644378	chr19:22323470-22323471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192531056	chr19:22323471-22323472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184865612	chr19:22323524-22323525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552850971	chr19:22323534-22323535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577858760	chr19:22323558-22323559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146577170	chr19:22323582-22323583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556780699	chr19:22323622-22323623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190139861	chr19:22323632-22323633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181758323	chr19:22323648-22323649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375950323	chr19:22323677-22323678	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22323000-22323600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:22323000-22323600	ZNF genes & repeats	Pancreas	Pancrea
3	chr19:22323200-22323600	ZNF genes & repeats	Gastric	stomach
4	chr19:22323400-22323800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:22323800-22327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:22325200-22325600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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