Variant report

Variant	esv3397434
Chromosome Location	chr19:51259488-51268441
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	ATF3	chr19:51263192-51263431	GM12878	blood:	n/a	n/a
2	ATF3	chr19:51263137-51263443	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr19:51263161-51263447	K562	blood:	n/a	n/a
4	CBX3	chr19:51263013-51263594	K562	blood:	n/a	n/a
5	CEBPB	chr19:51263226-51263641	H1-hESC	embryonic stem cell:	n/a	chr19:51263448-51263459
6	CEBPB	chr19:51263262-51263640	IMR90	lung:	n/a	chr19:51263448-51263459
7	CEBPB	chr19:51263101-51263642	A549	lung:	n/a	chr19:51263448-51263459
8	CEBPB	chr19:51263301-51263537	K562	blood:	n/a	chr19:51263448-51263459
9	CEBPB	chr19:51263228-51263684	A549	lung:	n/a	chr19:51263448-51263459
10	CEBPB	chr19:51263204-51263640	MCF-7	breast:	n/a	chr19:51263448-51263459
11	CEBPB	chr19:51263182-51263643	A549	lung:	n/a	chr19:51263448-51263459
12	CEBPB	chr19:51263149-51263649	K562	blood:	n/a	chr19:51263448-51263459
13	CEBPB	chr19:51263161-51263648	MCF-7	breast:	n/a	chr19:51263448-51263459
14	CEBPB	chr19:51263175-51263636	Hela-S3	cervix:	n/a	chr19:51263448-51263459
15	CEBPB	chr19:51264181-51264359	K562	blood:	n/a	n/a
16	CEBPB	chr19:51263279-51263520	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
17	CEBPB	chr19:51266871-51267131	K562	blood:	n/a	n/a
18	CEBPB	chr19:51263273-51263642	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
19	CEBPB	chr19:51263261-51263636	HepG2	liver:	n/a	chr19:51263448-51263459
20	CEBPB	chr19:51263143-51263622	K562	blood:	n/a	chr19:51263448-51263459
21	CEBPB	chr19:51266996-51267088	K562	blood:	n/a	n/a
22	CHD2	chr19:51263138-51263480	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr19:51263145-51263466	K562	blood:	n/a	n/a
24	CTCF	chr19:51259665-51259695	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr19:51265892-51265951	GM20000	blood:	n/a	n/a
26	CTCF	chr19:51259442-51259509	GM20000	blood:	n/a	n/a
27	CTCF	chr19:51259702-51259707	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr19:51265351-51265495	K562	blood:	n/a	n/a
29	EGR1	chr19:51265307-51265507	K562	blood:	n/a	n/a
30	ELF1	chr19:51263180-51263554	A549	lung:	n/a	n/a
31	ELF1	chr19:51263096-51263583	K562	blood:	n/a	n/a
32	ELF1	chr19:51263221-51263490	K562	blood:	n/a	n/a
33	ELF1	chr19:51263195-51263521	SK-N-SH	brain:	n/a	n/a
34	ELF1	chr19:51263160-51263539	MCF-7	breast:	n/a	n/a
35	ELF1	chr19:51262976-51263639	HCT-116	colon:	n/a	n/a
36	ELF1	chr19:51263226-51263485	GM12878	blood:	n/a	n/a
37	ELF1	chr19:51263104-51263493	A549	lung:	n/a	n/a
38	EP300	chr19:51263177-51263465	K562	blood:	n/a	n/a
39	ETS1	chr19:51263096-51263444	A549	lung:	n/a	n/a
40	ETS1	chr19:51263085-51263506	A549	lung:	n/a	n/a
41	FOS	chr19:51263139-51263507	K562	blood:	n/a	n/a
42	FOS	chr19:51265160-51265314	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA2	chr19:51262281-51262789	A549	lung:	n/a	n/a
44	GATA2	chr19:51266853-51267081	SH-SY5Y	brain:	n/a	n/a
45	HCFC1	chr19:51262953-51263595	Hela-S3	cervix:	n/a	n/a
46	HCFC1	chr19:51263086-51263540	K562	blood:	n/a	n/a
47	IRF1	chr19:51263147-51263495	K562	blood:	n/a	n/a
48	IRF1	chr19:51263115-51263527	K562	blood:	n/a	n/a
49	IRF3	chr19:51263211-51263348	GM12878	blood:	n/a	n/a
50	JUN	chr19:51264215-51264327	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51264409..51266482-chr19:51295781..51298327,2	MCF-7	breast:
2	chr19:51261730..51264544-chr19:51297937..51299631,2	K562	blood:

Variant related genes	Relation type
GPR32P1	TF binding region
ENSG00000268375	chromatin interactions

Extended variants
information (count: 503 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207477243	chr19:51259535-51259536	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577331917	chr19:51259569-51259570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4539714	chr19:51259612-51259613	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140050450	chr19:51259623-51259624	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4555258	chr19:51259635-51259636	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4545922	chr19:51259639-51259640	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561117224	chr19:51259652-51259653	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7253541	chr19:51259660-51259661	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190118155	chr19:51259678-51259679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7253770	chr19:51259708-51259709	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527689847	chr19:51259712-51259713	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540494053	chr19:51259720-51259721	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565051398	chr19:51259756-51259757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35871921	chr19:51259757-51259758	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532486322	chr19:51259759-51259760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs114093597	chr19:51259786-51259787	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182755157	chr19:51259807-51259808	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs114657894	chr19:51259813-51259814	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201601879	chr19:51259828-51259829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201215235	chr19:51259829-51259830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565796831	chr19:51259883-51259884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7256911	chr19:51259884-51259885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186704773	chr19:51259885-51259886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368243778	chr19:51259893-51259894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28581636	chr19:51259894-51259895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538193879	chr19:51259906-51259907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548296889	chr19:51259916-51259917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574703073	chr19:51259917-51259918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541875553	chr19:51259922-51259923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373334424	chr19:51259939-51259940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7256921	chr19:51259942-51259943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572372310	chr19:51259948-51259949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545864008	chr19:51259980-51259981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564535702	chr19:51259997-51259998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191567746	chr19:51259998-51259999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183832979	chr19:51260002-51260003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560725818	chr19:51260005-51260006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116967836	chr19:51260028-51260029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529934857	chr19:51260043-51260044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117385173	chr19:51260079-51260080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145406850	chr19:51260161-51260162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527408618	chr19:51260198-51260199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545657228	chr19:51260235-51260236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397859425	chr19:51260236-51260237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34468952	chr19:51260252-51260253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111632794	chr19:51260275-51260276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111300454	chr19:51260287-51260288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538109433	chr19:51260288-51260289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534746862	chr19:51260305-51260306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556442405	chr19:51260340-51260341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51243800-51261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51252200-51263000	Weak transcription	K562	blood
3	chr19:51258800-51260200	Enhancers	Placenta	Placenta
4	chr19:51260200-51261600	Weak transcription	Placenta	Placenta
5	chr19:51261600-51261800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:51261600-51268000	Enhancers	Placenta	Placenta
7	chr19:51261800-51262000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:51261800-51262000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:51262000-51262200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:51262000-51263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:51262200-51273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:51263000-51263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:51263000-51264600	Enhancers	K562	blood
14	chr19:51264600-51269000	Weak transcription	K562	blood
15	chr19:51265800-51266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:51266000-51267000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:51266600-51267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:51267000-51267400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:51267000-51267400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr19:51267000-51267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:51267400-51267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr19:51267400-51269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:51267600-51270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:51267800-51269200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:51268000-51269400	Weak transcription	Placenta	Placenta

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