Variant report

Variant	nsv1058259
Chromosome Location	chr19:56696282-56722747
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	ARID3A	chr19:56698314-56698923	K562	blood:	n/a	n/a
2	ATF1	chr19:56698261-56698693	K562	blood:	n/a	n/a
3	BRCA1	chr19:56720561-56720808	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr19:56698205-56698631	K562	blood:	n/a	n/a
5	CEBPB	chr19:56700199-56700448	K562	blood:	n/a	n/a
6	CEBPB	chr19:56709309-56709335	K562	blood:	n/a	n/a
7	CEBPB	chr19:56700253-56700534	K562	blood:	n/a	n/a
8	CEBPB	chr19:56711159-56711500	A549	lung:	n/a	chr19:56711325-56711336
9	CEBPB	chr19:56705321-56705483	K562	blood:	n/a	chr19:56705438-56705449
10	CEBPB	chr19:56716429-56716798	A549	lung:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
11	CEBPB	chr19:56716430-56716674	HepG2	liver:	n/a	chr19:56716533-56716544
12	CEBPB	chr19:56705414-56705462	HepG2	liver:	n/a	chr19:56705438-56705449
13	CEBPB	chr19:56696784-56697138	K562	blood:	n/a	chr19:56696969-56696980
14	CEBPB	chr19:56716455-56716760	IMR90	lung:	n/a	chr19:56716533-56716544
15	CEBPB	chr19:56711145-56711495	H1-hESC	embryonic stem cell:	n/a	chr19:56711325-56711336
16	CEBPB	chr19:56696810-56697154	Hela-S3	cervix:	n/a	chr19:56696969-56696980
17	CEBPB	chr19:56705349-56705533	A549	lung:	n/a	chr19:56705438-56705449
18	CEBPB	chr19:56696805-56697146	HepG2	liver:	n/a	chr19:56696969-56696980
19	CEBPB	chr19:56711153-56711485	Hela-S3	cervix:	n/a	chr19:56711325-56711336
20	CEBPB	chr19:56711141-56711460	HepG2	liver:	n/a	chr19:56711325-56711336
21	CEBPB	chr19:56711237-56711378	HepG2	liver:	n/a	chr19:56711325-56711336
22	CEBPB	chr19:56698072-56698566	K562	blood:	n/a	n/a
23	CEBPB	chr19:56707830-56708066	K562	blood:	n/a	n/a
24	CEBPB	chr19:56711161-56711465	K562	blood:	n/a	chr19:56711325-56711336
25	CEBPB	chr19:56711122-56711514	HepG2	liver:	n/a	chr19:56711325-56711336
26	CEBPB	chr19:56711156-56711414	HepG2	liver:	n/a	chr19:56711325-56711336
27	CEBPB	chr19:56696903-56697053	H1-hESC	embryonic stem cell:	n/a	chr19:56696969-56696980
28	CEBPB	chr19:56696852-56697111	A549	lung:	n/a	chr19:56696969-56696980
29	CEBPB	chr19:56716360-56717024	Hela-S3	cervix:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
30	CEBPB	chr19:56720517-56720847	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr19:56711177-56711471	IMR90	lung:	n/a	chr19:56711325-56711336
32	CEBPB	chr19:56716510-56716908	K562	blood:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
33	CEBPB	chr19:56696807-56697096	IMR90	lung:	n/a	chr19:56696969-56696980
34	CEBPD	chr19:56698214-56698750	K562	blood:	n/a	n/a
35	CEBPD	chr19:56698159-56698762	K562	blood:	n/a	n/a
36	CHD2	chr19:56720635-56720730	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr19:56701367-56701380	K562	blood:	n/a	n/a
38	CHD2	chr19:56720040-56720297	K562	blood:	n/a	n/a
39	CTCF	chr19:56701240-56701390	K562	blood:	n/a	n/a
40	CTCF	chr19:56702653-56702680	GM10266	blood:	n/a	n/a
41	CTCF	chr19:56717496-56717536	Lung_OC	lung:	n/a	n/a
42	CTCF	chr19:56702537-56702888	K562	blood:	n/a	n/a
43	CTCF	chr19:56701260-56701410	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr19:56701260-56701410	SAEC	small airway:	n/a	n/a
45	CTCF	chr19:56718992-56719287	K562	blood:	n/a	n/a
46	CTCF	chr19:56702640-56702790	HEK293	kidney:	n/a	n/a
47	CTCF	chr19:56702584-56702765	K562	blood:	n/a	n/a
48	CTCF	chr19:56701251-56701417	K562	blood:	n/a	n/a
49	CTCF	chr19:56719073-56719254	K562	blood:	n/a	n/a
50	CTCF	chr19:56719019-56719288	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56701088-56701138	HNPCEpiC	eye:	n/a
2	chr19:56709056-56709106	U87	brain:	n/a
3	chr19:56705497-56705547	LNCaP	prostate:	n/a
4	chr19:56701088-56701138	HNPCEpiC	eye:	n/a
5	chr19:56709056-56709106	U87	brain:	n/a
6	chr19:56705497-56705547	LNCaP	prostate:	n/a
7	chr19:56704341-56704391	GM19239	blood:	n/a
8	chr19:56705386-56705436	ProgFib	skin:	n/a
9	chr19:56704341-56704391	HMEC	breast:	n/a
10	chr19:56709056-56709106	ECC-1	luminal epithelium:	n/a
11	chr19:56704341-56704391	Jurkat	blood:	n/a
12	chr19:56711667-56711717	Jurkat	blood:	n/a
13	chr19:56707808-56707858	BE2_C	brain:	n/a
14	chr19:56705433-56705483	ProgFib	skin:	n/a
15	chr19:56705497-56705547	NB4	blood:	n/a
16	chr19:56705386-56705436	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:56696870-56696920	HNPCEpiC	eye:	n/a
18	chr19:56701254-56701304	H1-hESC	embryonic stem cell:	embryo
19	chr19:56701254-56701304	Caco-2	colon:	n/a
20	chr19:56707808-56707858	RPTEC	kidney:	n/a
21	chr19:56701254-56701304	MCF10A-Er-Src	breast:	n/a
22	chr19:56705386-56705436	SK-N-MC	brain:	n/a
23	chr19:56707808-56707858	NHBE	bronchial:	n/a
24	chr19:56707808-56707858	HMEC	breast:	n/a
25	chr19:56696870-56696920	NHDF-neo	bronchial:	n/a
26	chr19:56701254-56701304	ECC-1	luminal epithelium:	n/a
27	chr19:56705433-56705483	AG10803	skin:	n/a
28	chr19:56711667-56711717	U87	brain:	n/a
29	chr19:56705433-56705483	BJ	skin:	n/a
30	chr19:56709228-56709278	AG09319	gingival:	n/a
31	chr19:56704341-56704391	PrEC	prostate:	n/a
32	chr19:56696870-56696920	T-47D	breast:	n/a
33	chr19:56709056-56709106	HRPEpiC	eye:	n/a
34	chr19:56709228-56709278	GM12891	blood:	n/a
35	chr19:56705386-56705436	U87	brain:	n/a
36	chr19:56705433-56705483	HIPEpiC	eye:	n/a
37	chr19:56704341-56704391	HUVEC	blood vessel:	n/a
38	chr19:56704341-56704391	PFSK-1	brain:	n/a
39	chr19:56705497-56705547	HRPEpiC	eye:	n/a
40	chr19:56705386-56705436	Caco-2	colon:	n/a
41	chr19:56709056-56709106	GM06990	blood:	n/a
42	chr19:56701088-56701138	A549	lung:	n/a
43	chr19:56701254-56701304	AG10803	skin:	n/a
44	chr19:56705433-56705483	U87	brain:	n/a
45	chr19:56709655-56709705	SK-N-SH_RA	brain:	n/a
46	chr19:56711667-56711717	HIPEpiC	eye:	n/a
47	chr19:56701254-56701304	T-47D	breast:	n/a
48	chr19:56701088-56701138	RPTEC	kidney:	n/a
49	chr19:56704341-56704391	IMR90	lung:	fetal
50	chr19:56701088-56701138	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56706835..56708923-chr19:56717136..56719247,2	K562	blood:
2	chr19:56694186..56698324-chr19:56698813..56701404,4	K562	blood:
3	chr19:56694186..56698324-chr19:56698813..56701404,4	K562	blood:
4	chr19:56717707..56719210-chr19:56732793..56735030,2	MCF-7	breast:

Variant related genes	Relation type
ZSCAN5B	TF binding region
ZSCAN5C	TF binding region
ZSCAN5B	CpG island
ZSCAN5C	CpG island
ENSG00000204532	chromatin interactions

Extended variants
information (count: 650 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111694681	chr19:56696342-56696343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532837475	chr19:56696349-56696350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546205750	chr19:56696408-56696409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148032416	chr19:56696473-56696474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141760700	chr19:56696474-56696475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548623180	chr19:56696486-56696487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117735362	chr19:56696524-56696525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34504329	chr19:56696530-56696531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111518984	chr19:56696533-56696534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200497477	chr19:56696538-56696539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375585921	chr19:56696581-56696582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs267605710	chr19:56696610-56696611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560241152	chr19:56696619-56696620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369677673	chr19:56696642-56696643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575462556	chr19:56696665-56696666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371704953	chr19:56696668-56696669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56174458	chr19:56696670-56696671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369175700	chr19:56696671-56696672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112568367	chr19:56696672-56696673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538524358	chr19:56696690-56696691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7258532	chr19:56696739-56696740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570556760	chr19:56696755-56696756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182966311	chr19:56696792-56696793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76950848	chr19:56696832-56696833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368603395	chr19:56696896-56696897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187492707	chr19:56696901-56696902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529069651	chr19:56696945-56696946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554605426	chr19:56696952-56696953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79670848	chr19:56696973-56696974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533907460	chr19:56696989-56696990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544353921	chr19:56696994-56696995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553778826	chr19:56697041-56697042	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576958599	chr19:56697073-56697074	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546463593	chr19:56697129-56697130	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556349337	chr19:56697164-56697165	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563049002	chr19:56697166-56697167	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569889297	chr19:56697180-56697181	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576532334	chr19:56697209-56697210	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542079286	chr19:56697250-56697251	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561811203	chr19:56697275-56697276	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527765066	chr19:56697359-56697360	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77949196	chr19:56697385-56697386	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564137223	chr19:56697388-56697389	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533215071	chr19:56697390-56697391	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543946752	chr19:56697393-56697394	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552409915	chr19:56697399-56697400	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142679517	chr19:56697460-56697461	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10404238	chr19:56697461-56697462	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74679426	chr19:56697485-56697486	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548063804	chr19:56697527-56697528	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56688600-56702400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:56697000-56697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:56697000-56697200	Flanking Active TSS	A549	lung
4	chr19:56697000-56697400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:56697000-56697400	Flanking Active TSS	Hela-S3	cervix
6	chr19:56697000-56697600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:56697000-56697600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:56697000-56697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:56697000-56697600	Enhancers	Dnd41	blood
10	chr19:56697000-56697600	Active TSS	Osteobl	bone
11	chr19:56697200-56697400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr19:56697200-56697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:56697200-56697600	Active TSS	A549	lung
14	chr19:56697200-56698400	Enhancers	K562	blood
15	chr19:56697400-56697600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr19:56697400-56697600	Active TSS	Hela-S3	cervix
17	chr19:56697600-56697800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:56698400-56698800	Flanking Active TSS	K562	blood
19	chr19:56698800-56699200	Enhancers	K562	blood
20	chr19:56699200-56701000	Weak transcription	K562	blood
21	chr19:56701000-56701600	Enhancers	K562	blood
22	chr19:56701200-56701400	Bivalent Enhancer	HepG2	liver
23	chr19:56701200-56701600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:56702400-56702800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:56705400-56705800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:56710800-56712400	Enhancers	Liver	Liver
27	chr19:56711000-56711200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:56711000-56711800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr19:56711600-56711800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr19:56716600-56717200	Bivalent Enhancer	Hela-S3	cervix

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