Variant report

Variant	nsv911438
Chromosome Location	chr19:22278121-22346403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:22317299-22317405	K562	blood:	n/a	n/a
2	BCLAF1	chr19:22327265-22327471	GM12878	blood:	n/a	n/a
3	CBX3	chr19:22327182-22327501	K562	blood:	n/a	n/a
4	CBX3	chr19:22327284-22327512	HCT-116	colon:	n/a	n/a
5	CBX3	chr19:22327195-22327536	K562	blood:	n/a	n/a
6	CEBPB	chr19:22320453-22320571	A549	lung:	n/a	n/a
7	CEBPB	chr19:22316363-22316659	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:22317520-22317702	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:22318107-22318751	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr19:22316342-22316684	A549	lung:	n/a	n/a
11	CEBPB	chr19:22320441-22320600	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:22318406-22318779	HepG2	liver:	n/a	n/a
13	CEBPZ	chr19:22327227-22327553	HepG2	liver:	n/a	n/a
14	CTCF	chr19:22344343-22344384	GM20000	blood:	n/a	n/a
15	CTCF	chr19:22322395-22322424	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr19:22295793-22295878	GM20000	blood:	n/a	n/a
17	CTCF	chr19:22342028-22342100	LNCaP	prostate:	n/a	n/a
18	CTCF	chr19:22326760-22326910	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:22326880-22327030	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr19:22323766-22323791	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:22323327-22323369	Fibrobl	skin:	n/a	n/a
22	CTCF	chr19:22306400-22306550	HEK293	kidney:	n/a	n/a
23	CTCF	chr19:22323184-22323240	ProgFib	skin:	n/a	n/a
24	CTCF	chr19:22306343-22306483	K562	blood:	n/a	n/a
25	CTCF	chr19:22278949-22278977	GM20000	blood:	n/a	n/a
26	CTCF	chr19:22294750-22294821	GM13976	blood:	n/a	n/a
27	CTCF	chr19:22288010-22288081	GM13977	blood:	n/a	n/a
28	E2F4	chr19:22299519-22299743	MCF10A-Er-Src	breast:	n/a	n/a
29	EGR1	chr19:22296773-22296918	GM12878	blood:	n/a	n/a
30	EP300	chr19:22327314-22327434	GM12878	blood:	n/a	n/a
31	EP300	chr19:22327307-22327434	GM12878	blood:	n/a	n/a
32	IRF1	chr19:22327297-22327497	K562	blood:	n/a	n/a
33	IRF3	chr19:22327410-22327486	GM12878	blood:	n/a	n/a
34	JUN	chr19:22327208-22327544	K562	blood:	n/a	n/a
35	KAP1	chr19:22327012-22327731	HEK293	kidney:	n/a	n/a
36	KAP1	chr19:22326970-22327837	K562	blood:	n/a	n/a
37	KAP1	chr19:22327199-22327612	U2OS	brain:	n/a	n/a
38	MAFF	chr19:22282921-22283114	HepG2	liver:	n/a	chr19:22282965-22282983
39	MAFF	chr19:22282951-22283148	K562	blood:	n/a	chr19:22282965-22282983
40	MAFK	chr19:22297121-22297622	HepG2	liver:	n/a	chr19:22297456-22297467 chr19:22297456-22297467 chr19:22297455-22297469
41	MAFK	chr19:22282921-22283170	IMR90	lung:	n/a	n/a
42	MAFK	chr19:22292980-22293251	HepG2	liver:	n/a	n/a
43	MAFK	chr19:22302513-22302707	HepG2	liver:	n/a	n/a
44	MAFK	chr19:22282892-22283214	HepG2	liver:	n/a	n/a
45	MAX	chr19:22327346-22327383	GM12878	blood:	n/a	n/a
46	MAZ	chr19:22327332-22327383	GM12878	blood:	n/a	n/a
47	MAZ	chr19:22327282-22327551	K562	blood:	n/a	n/a
48	MXI1	chr19:22299486-22299587	GM12878	blood:	n/a	n/a
49	MXI1	chr19:22327280-22327474	GM12878	blood:	n/a	n/a
50	MYC	chr19:22327239-22327538	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22320744-22320794	GM12891	blood:	n/a
2	chr19:22321700-22321750	K562	blood:	n/a
3	chr19:22318466-22318516	GM12878	blood:	n/a
4	chr19:22323107-22323157	HEK293	kidney:	embryo
5	chr19:22323107-22323157	K562	blood:	n/a
6	chr19:22323107-22323157	AoSMC	blood vessel:	n/a
7	chr19:22320869-22320919	GM19239	blood:	n/a
8	chr19:22321700-22321750	MCF10A-Er-Src	breast:	n/a
9	chr19:22319196-22319246	HEEpiC	esophagus:	n/a
10	chr19:22319196-22319246	AG09309	skin:	n/a
11	chr19:22320744-22320794	HepG2	liver:	n/a
12	chr19:22320869-22320919	K562	blood:	n/a
13	chr19:22321700-22321750	HNPCEpiC	eye:	n/a
14	chr19:22321700-22321750	HepG2	liver:	n/a
15	chr19:22318466-22318516	AG04449	skin:	fetal
16	chr19:22320975-22321025	HCPEpiC	choroid plexus:	n/a
17	chr19:22320975-22321025	GM12878	blood:	n/a
18	chr19:22323107-22323157	HCF	heart:	n/a
19	chr19:22320869-22320919	NHDF-neo	bronchial:	n/a
20	chr19:22320744-22320794	ovcar-3	ovarian:	n/a
21	chr19:22320744-22320794	HIPEpiC	eye:	n/a
22	chr19:22320744-22320794	AG09319	gingival:	n/a
23	chr19:22320869-22320919	HRE	kidney:	n/a
24	chr19:22323107-22323157	IMR90	lung:	fetal
25	chr19:22321700-22321750	HIPEpiC	eye:	n/a
26	chr19:22318466-22318516	HNPCEpiC	eye:	n/a
27	chr19:22320975-22321025	MCF-7	breast:	n/a
28	chr19:22320975-22321025	HRPEpiC	eye:	n/a
29	chr19:22319196-22319246	SAEC	small airway:	n/a
30	chr19:22319196-22319246	ProgFib	skin:	n/a
31	chr19:22318466-22318516	T-47D	breast:	n/a
32	chr19:22318466-22318516	A549	lung:	n/a
33	chr19:22320869-22320919	HCM	heart:	n/a
34	chr19:22323107-22323157	HCPEpiC	choroid plexus:	n/a
35	chr19:22319196-22319246	MCF-7	breast:	n/a
36	chr19:22319196-22319246	SK-N-SH_RA	brain:	n/a
37	chr19:22321700-22321750	HRCEpiC	kidney:	n/a
38	chr19:22321700-22321750	HRPEpiC	eye:	n/a
39	chr19:22318466-22318516	NHDF-neo	bronchial:	n/a
40	chr19:22319196-22319246	NHBE	bronchial:	n/a
41	chr19:22323107-22323157	A549	lung:	n/a
42	chr19:22320744-22320794	GM12892	blood:	n/a
43	chr19:22320744-22320794	Jurkat	blood:	n/a
44	chr19:22323107-22323157	Caco-2	colon:	n/a
45	chr19:22320869-22320919	PANC-1	pancreas:	n/a
46	chr19:22320744-22320794	Hepatocyte	liver:	n/a
47	chr19:22320744-22320794	MCF10A-Er-Src	breast:	n/a
48	chr19:22320869-22320919	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:22320869-22320919	SK-N-SH	brain:	n/a
50	chr19:22321700-22321750	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22236195..22238676-chr19:22281763..22284450,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-3	chr19:22312574-22313120	NONHSAT063766
2	lnc-ZNF676-3	chr19:22314709-22314736	NONHSAT063766
3	lnc-ZNF676-3	chr19:22311429-22311769	NONHSAT063766
4	lnc-ZNF676-3	chr19:22312079-22312249	NONHSAT063766

No data

Variant related genes	Relation type
ENSG00000268116	TF binding region
PCGF7P	TF binding region
ENSG00000269575	TF binding region
ZNF92P2	TF binding region
ENSG00000268116	CpG island
PCGF7P	CpG island
ENSG00000269575	CpG island
ZNF92P2	CpG island

Extended variants
information (count: 1157 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17459246	chr19:22278121-22278122	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541190484	chr19:22278138-22278139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370512536	chr19:22278177-22278178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181097242	chr19:22278226-22278227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575553587	chr19:22278287-22278288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547310006	chr19:22278359-22278360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574681162	chr19:22278365-22278366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560516893	chr19:22278381-22278382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563848943	chr19:22278493-22278494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530798852	chr19:22278558-22278559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs145216566	chr19:22278574-22278575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376826169	chr19:22278603-22278604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372312875	chr19:22278621-22278622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs202080647	chr19:22278626-22278627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532195679	chr19:22278627-22278628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200536309	chr19:22278628-22278629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4025840	chr19:22278639-22278640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200035062	chr19:22278640-22278641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs58012128	chr19:22278641-22278642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201307054	chr19:22278643-22278644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199662612	chr19:22278645-22278646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200842926	chr19:22278669-22278670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528776634	chr19:22278682-22278683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374582401	chr19:22278693-22278694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368455034	chr19:22278695-22278696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs35694488	chr19:22278696-22278697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4025841	chr19:22278708-22278709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186335422	chr19:22278735-22278736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190791258	chr19:22278773-22278774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538886188	chr19:22278785-22278786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs58175919	chr19:22278798-22278799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542007459	chr19:22278810-22278811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557416430	chr19:22278815-22278816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373520567	chr19:22278833-22278834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377522390	chr19:22278856-22278857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536612616	chr19:22278862-22278863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555354898	chr19:22278878-22278879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142340112	chr19:22278967-22278968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541338392	chr19:22278981-22278982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553353045	chr19:22279013-22279014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369438058	chr19:22279029-22279030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56138218	chr19:22279031-22279032	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs1968446	chr19:22279047-22279048	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147010655	chr19:22279077-22279078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553902275	chr19:22279093-22279094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201533931	chr19:22279107-22279108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182975593	chr19:22279129-22279130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187982977	chr19:22279130-22279131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147630102	chr19:22279149-22279150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528512235	chr19:22279170-22279171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22277800-22279800	ZNF genes & repeats	Liver	Liver
2	chr19:22280200-22280800	ZNF genes & repeats	Liver	Liver
3	chr19:22280600-22280800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:22282400-22284200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr19:22285200-22285600	ZNF genes & repeats	Liver	Liver
6	chr19:22286000-22286800	ZNF genes & repeats	Liver	Liver
7	chr19:22299000-22299200	Active TSS	Liver	Liver
8	chr19:22299200-22299600	Enhancers	Liver	Liver
9	chr19:22299600-22299800	Flanking Active TSS	Liver	Liver
10	chr19:22299800-22300400	Enhancers	Liver	Liver
11	chr19:22300400-22300800	Flanking Active TSS	Liver	Liver
12	chr19:22300800-22301600	Weak transcription	Liver	Liver
13	chr19:22301600-22303200	ZNF genes & repeats	Liver	Liver
14	chr19:22304800-22305200	Enhancers	Liver	Liver
15	chr19:22307400-22308800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr19:22307600-22309200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:22307800-22308600	ZNF genes & repeats	Liver	Liver
18	chr19:22316000-22316600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:22317600-22319000	ZNF genes & repeats	Liver	Liver
20	chr19:22317800-22318400	Active TSS	Fetal Heart	heart
21	chr19:22323000-22323600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:22323000-22323600	ZNF genes & repeats	Pancreas	Pancrea
23	chr19:22323200-22323600	ZNF genes & repeats	Gastric	stomach
24	chr19:22323400-22323800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:22323800-22327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:22325200-22325600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:22326200-22328000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:22326200-22329200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:22326800-22328400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:22327000-22327800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr19:22327200-22327600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:22327200-22327600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr19:22327200-22328000	ZNF genes & repeats	Liver	Liver
34	chr19:22327200-22328200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:22330600-22332000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:22331200-22331600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:22331200-22331800	ZNF genes & repeats	Lung	lung
38	chr19:22331200-22332000	ZNF genes & repeats	Liver	Liver
39	chr19:22331800-22332200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr19:22344000-22344800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:22344600-22346400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr19:22345400-22346000	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links