Variant report

Variant	esv14094
Chromosome Location	chr19:51263359-51275079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:62)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:51263161-51263447	K562	blood:	n/a	n/a
2	ATF3	chr19:51263137-51263443	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr19:51263192-51263431	GM12878	blood:	n/a	n/a
4	CBX3	chr19:51263013-51263594	K562	blood:	n/a	n/a
5	CEBPB	chr19:51266996-51267088	K562	blood:	n/a	n/a
6	CEBPB	chr19:51263226-51263641	H1-hESC	embryonic stem cell:	n/a	chr19:51263448-51263459
7	CEBPB	chr19:51264181-51264359	K562	blood:	n/a	n/a
8	CEBPB	chr19:51263161-51263648	MCF-7	breast:	n/a	chr19:51263448-51263459
9	CEBPB	chr19:51263204-51263640	MCF-7	breast:	n/a	chr19:51263448-51263459
10	CEBPB	chr19:51263228-51263684	A549	lung:	n/a	chr19:51263448-51263459
11	CEBPB	chr19:51263175-51263636	Hela-S3	cervix:	n/a	chr19:51263448-51263459
12	CEBPB	chr19:51263149-51263649	K562	blood:	n/a	chr19:51263448-51263459
13	CEBPB	chr19:51266871-51267131	K562	blood:	n/a	n/a
14	CEBPB	chr19:51263182-51263643	A549	lung:	n/a	chr19:51263448-51263459
15	CEBPB	chr19:51263143-51263622	K562	blood:	n/a	chr19:51263448-51263459
16	CEBPB	chr19:51263262-51263640	IMR90	lung:	n/a	chr19:51263448-51263459
17	CEBPB	chr19:51263279-51263520	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
18	CEBPB	chr19:51263273-51263642	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
19	CEBPB	chr19:51263301-51263537	K562	blood:	n/a	chr19:51263448-51263459
20	CEBPB	chr19:51263261-51263636	HepG2	liver:	n/a	chr19:51263448-51263459
21	CEBPB	chr19:51263101-51263642	A549	lung:	n/a	chr19:51263448-51263459
22	CHD2	chr19:51263145-51263466	K562	blood:	n/a	n/a
23	CHD2	chr19:51263138-51263480	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr19:51265892-51265951	GM20000	blood:	n/a	n/a
25	CTCF	chr19:51270501-51270562	Kidney_OC	kidney:	n/a	n/a
26	EGR1	chr19:51265351-51265495	K562	blood:	n/a	n/a
27	EGR1	chr19:51265307-51265507	K562	blood:	n/a	n/a
28	ELF1	chr19:51263221-51263490	K562	blood:	n/a	n/a
29	ELF1	chr19:51263195-51263521	SK-N-SH	brain:	n/a	n/a
30	ELF1	chr19:51263096-51263583	K562	blood:	n/a	n/a
31	ELF1	chr19:51263180-51263554	A549	lung:	n/a	n/a
32	ELF1	chr19:51263160-51263539	MCF-7	breast:	n/a	n/a
33	ELF1	chr19:51263104-51263493	A549	lung:	n/a	n/a
34	ELF1	chr19:51262976-51263639	HCT-116	colon:	n/a	n/a
35	ELF1	chr19:51263226-51263485	GM12878	blood:	n/a	n/a
36	EP300	chr19:51263177-51263465	K562	blood:	n/a	n/a
37	ETS1	chr19:51263096-51263444	A549	lung:	n/a	n/a
38	ETS1	chr19:51263085-51263506	A549	lung:	n/a	n/a
39	FOS	chr19:51265160-51265314	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr19:51263139-51263507	K562	blood:	n/a	n/a
41	FOSL2	chr19:51270525-51270789	HepG2	liver:	n/a	n/a
42	FOXA2	chr19:51274528-51275020	A549	lung:	n/a	n/a
43	GATA2	chr19:51266853-51267081	SH-SY5Y	brain:	n/a	n/a
44	HCFC1	chr19:51263086-51263540	K562	blood:	n/a	n/a
45	HCFC1	chr19:51262953-51263595	Hela-S3	cervix:	n/a	n/a
46	IRF1	chr19:51271654-51271854	K562	blood:	n/a	chr19:51271783-51271804
47	IRF1	chr19:51271585-51271984	K562	blood:	n/a	chr19:51271783-51271804
48	IRF1	chr19:51263147-51263495	K562	blood:	n/a	n/a
49	IRF1	chr19:51263115-51263527	K562	blood:	n/a	n/a
50	IRF1	chr19:51271560-51271972	K562	blood:	n/a	chr19:51271783-51271804

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51273924-51273974	HMEC	breast:	n/a
2	chr19:51273924-51273974	HMEC	breast:	n/a
3	chr19:51273924-51273974	GM06990	blood:	n/a
4	chr19:51273924-51273974	GM12878	blood:	n/a
5	chr19:51273924-51273974	SK-N-MC	brain:	n/a
6	chr19:51273924-51273974	HL-60	blood:	n/a
7	chr19:51273924-51273974	HIPEpiC	eye:	n/a
8	chr19:51273924-51273974	RPTEC	kidney:	n/a
9	chr19:51273924-51273974	AG09309	skin:	n/a
10	chr19:51273924-51273974	MCF10A-Er-Src	breast:	n/a
11	chr19:51273924-51273974	Caco-2	colon:	n/a
12	chr19:51273924-51273974	ovcar-3	ovarian:	n/a
13	chr19:51273924-51273974	HepG2	liver:	n/a
14	chr19:51273924-51273974	SK-N-SH_RA	brain:	n/a
15	chr19:51273924-51273974	HAEpiC	amniotic membrane:	n/a
16	chr19:51273924-51273974	HCT-116	colon:	n/a
17	chr19:51273924-51273974	AG04450	lung:	fetal
18	chr19:51273924-51273974	HCM	heart:	n/a
19	chr19:51273924-51273974	HRE	kidney:	n/a
20	chr19:51273924-51273974	NH-A	brain:	n/a
21	chr19:51273924-51273974	AG10803	skin:	n/a
22	chr19:51273924-51273974	K562	blood:	n/a
23	chr19:51273924-51273974	NHBE	bronchial:	n/a
24	chr19:51273924-51273974	PrEC	prostate:	n/a
25	chr19:51273924-51273974	T-47D	breast:	n/a
26	chr19:51273924-51273974	CMK	blood:	n/a
27	chr19:51273924-51273974	HUVEC	blood vessel:	n/a
28	chr19:51273924-51273974	U87	brain:	n/a
29	chr19:51273924-51273974	PFSK-1	brain:	n/a
30	chr19:51273924-51273974	GM12892	blood:	n/a
31	chr19:51273924-51273974	PANC-1	pancreas:	n/a
32	chr19:51273924-51273974	HEK293	kidney:	embryo
33	chr19:51273924-51273974	ECC-1	luminal epithelium:	n/a
34	chr19:51273924-51273974	NHDF-neo	bronchial:	n/a
35	chr19:51273924-51273974	BE2_C	brain:	n/a
36	chr19:51273924-51273974	SKMC	muscle:	n/a
37	chr19:51273924-51273974	MCF-7	breast:	n/a
38	chr19:51273924-51273974	SK-N-SH	brain:	n/a
39	chr19:51273924-51273974	Hela-S3	cervix:	n/a
40	chr19:51273924-51273974	GM19239	blood:	n/a
41	chr19:51273924-51273974	HNPCEpiC	eye:	n/a
42	chr19:51273924-51273974	HRPEpiC	eye:	n/a
43	chr19:51273924-51273974	AG09319	gingival:	n/a
44	chr19:51273924-51273974	HEEpiC	esophagus:	n/a
45	chr19:51273924-51273974	Jurkat	blood:	n/a
46	chr19:51273924-51273974	BJ	skin:	n/a
47	chr19:51273924-51273974	IMR90	lung:	fetal
48	chr19:51273924-51273974	HRCEpiC	kidney:	n/a
49	chr19:51273924-51273974	AoSMC	blood vessel:	n/a
50	chr19:51273924-51273974	NT2-D1	testis:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr19:51261730..51264544-chr19:51297937..51299631,2	K562	blood:
2	chr19:51159187..51161941-chr19:51274551..51277312,2	K562	blood:
3	chr19:51264409..51266482-chr19:51295781..51298327,2	MCF-7	breast:
4	chr19:51210289..51212000-chr19:51274505..51277258,2	K562	blood:
5	chr19:51260685..51263505-chr19:51269843..51271574,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf48-4	chr19:51272118-51272727	ucscGeneNc_uc002pdz_1

No data

Variant related genes	Relation type
GPR32	TF binding region
GPR32	CpG island
ENSG00000235034	chromatin interactions
ENSG00000269565	chromatin interactions
ENSG00000268375	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:622 , 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	rs111967839	chr19:51263372-51263373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534558166	chr19:51263387-51263388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558681721	chr19:51263388-51263389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201514294	chr19:51263389-51263390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113065896	chr19:51263390-51263391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544266609	chr19:51263391-51263392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372251715	chr19:51263409-51263410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556260781	chr19:51263410-51263411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386810258	chr19:51263413-51263414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs70954436	chr19:51263414-51263415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4802740	chr19:51263432-51263433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77919509	chr19:51263454-51263455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147535442	chr19:51263455-51263456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200650486	chr19:51263497-51263498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7248759	chr19:51263510-51263511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201100695	chr19:51263542-51263543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550664721	chr19:51263589-51263590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568834952	chr19:51263611-51263612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528843074	chr19:51263645-51263646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62114267	chr19:51263650-51263651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78584712	chr19:51263652-51263653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185862611	chr19:51263658-51263659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565538189	chr19:51263712-51263713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190765944	chr19:51263721-51263722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547875705	chr19:51263737-51263738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566469299	chr19:51263747-51263748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534183076	chr19:51263752-51263753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552468659	chr19:51263773-51263774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182610143	chr19:51263777-51263778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35783836	chr19:51263784-51263785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538027444	chr19:51263792-51263793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111907867	chr19:51263800-51263801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574827177	chr19:51263801-51263802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535990499	chr19:51263808-51263809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145510006	chr19:51263844-51263845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572411893	chr19:51263845-51263846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113805655	chr19:51263881-51263882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540497024	chr19:51263883-51263884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147378863	chr19:51263892-51263893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577236609	chr19:51263901-51263902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139076709	chr19:51263923-51263924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149881752	chr19:51263939-51263940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34855272	chr19:51263943-51263944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144909903	chr19:51263945-51263946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548278260	chr19:51263946-51263947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149028074	chr19:51263967-51263968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114463790	chr19:51263971-51263972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551784242	chr19:51263972-51263973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561717484	chr19:51264029-51264030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570795053	chr19:51264042-51264043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51261600-51268000	Enhancers	Placenta	Placenta
2	chr19:51262200-51273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51263000-51264600	Enhancers	K562	blood
4	chr19:51264600-51269000	Weak transcription	K562	blood
5	chr19:51265800-51266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:51266000-51267000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:51266600-51267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:51267000-51267400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:51267000-51267400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr19:51267000-51267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:51267400-51267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:51267400-51269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:51267600-51270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:51267800-51269200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:51268000-51269400	Weak transcription	Placenta	Placenta
16	chr19:51269000-51270000	Enhancers	K562	blood
17	chr19:51269200-51270400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:51269400-51270400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:51269400-51271600	Enhancers	Placenta	Placenta
20	chr19:51269600-51270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:51269800-51270200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr19:51270000-51270400	Weak transcription	K562	blood
23	chr19:51270400-51271400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:51270400-51271800	Enhancers	K562	blood
25	chr19:51270400-51281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:51270600-51271000	Enhancers	HUVEC	blood vessel
27	chr19:51270600-51271400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:51270600-51271400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:51271200-51272200	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:51271400-51271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr19:51271400-51271800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:51271400-51272000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:51271600-51275200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:51271600-51280200	Weak transcription	Placenta	Placenta
35	chr19:51271800-51272400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:51271800-51275600	Weak transcription	K562	blood
37	chr19:51272000-51272200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:51273800-51274200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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