Variant report

Variant	esv10221
Chromosome Location	chr19:51254643-51267041
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	chr19:51263161-51263447	K562	blood:	n/a	n/a
2	ATF3	chr19:51263192-51263431	GM12878	blood:	n/a	n/a
3	ATF3	chr19:51263137-51263443	H1-hESC	embryonic stem cell:	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	chr19:51263182-51263643	A549	lung:	n/a	chr19:51263448-51263459
7	CEBPB	chr19:51263279-51263520	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
8	CEBPB	chr19:51266996-51267088	K562	blood:	n/a	n/a
9	CEBPB	chr19:51263161-51263648	MCF-7	breast:	n/a	chr19:51263448-51263459
10	CEBPB	chr19:51263301-51263537	K562	blood:	n/a	chr19:51263448-51263459
11	CEBPB	chr19:51263204-51263640	MCF-7	breast:	n/a	chr19:51263448-51263459
12	CEBPB	chr19:51263228-51263684	A549	lung:	n/a	chr19:51263448-51263459
13	CEBPB	chr19:51263175-51263636	Hela-S3	cervix:	n/a	chr19:51263448-51263459
14	CEBPB	chr19:51263261-51263636	HepG2	liver:	n/a	chr19:51263448-51263459
15	CEBPB	chr19:51255149-51255312	A549	lung:	n/a	n/a
16	CEBPB	chr19:51263101-51263642	A549	lung:	n/a	chr19:51263448-51263459
17	CEBPB	chr19:51263273-51263642	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
18	CEBPB	chr19:51264181-51264359	K562	blood:	n/a	n/a
19	CEBPB	chr19:51266871-51267131	K562	blood:	n/a	n/a
20	CEBPB	chr19:51263143-51263622	K562	blood:	n/a	chr19:51263448-51263459
21	CEBPB	chr19:51263262-51263640	IMR90	lung:	n/a	chr19:51263448-51263459
22	CEBPB	chr19:51263149-51263649	K562	blood:	n/a	chr19:51263448-51263459
23	CHD2	chr19:51263138-51263480	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr19:51263145-51263466	K562	blood:	n/a	n/a
25	CTCF	chr19:51259665-51259695	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr19:51259702-51259707	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:51265892-51265951	GM20000	blood:	n/a	n/a
28	CTCF	chr19:51255542-51255571	GM10248	blood:	n/a	n/a
29	CTCF	chr19:51259442-51259509	GM20000	blood:	n/a	n/a
30	EGR1	chr19:51265307-51265507	K562	blood:	n/a	n/a
31	EGR1	chr19:51265351-51265495	K562	blood:	n/a	n/a
32	ELF1	chr19:51263160-51263539	MCF-7	breast:	n/a	n/a
33	ELF1	chr19:51263180-51263554	A549	lung:	n/a	n/a
34	ELF1	chr19:51263096-51263583	K562	blood:	n/a	n/a
35	ELF1	chr19:51262976-51263639	HCT-116	colon:	n/a	n/a
36	ELF1	chr19:51263195-51263521	SK-N-SH	brain:	n/a	n/a
37	ELF1	chr19:51263104-51263493	A549	lung:	n/a	n/a
38	ELF1	chr19:51263221-51263490	K562	blood:	n/a	n/a
39	ELF1	chr19:51263226-51263485	GM12878	blood:	n/a	n/a
40	EP300	chr19:51263177-51263465	K562	blood:	n/a	n/a
41	ETS1	chr19:51263085-51263506	A549	lung:	n/a	n/a
42	ETS1	chr19:51263096-51263444	A549	lung:	n/a	n/a
43	FOS	chr19:51263139-51263507	K562	blood:	n/a	n/a
44	FOS	chr19:51265160-51265314	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA2	chr19:51262281-51262789	A549	lung:	n/a	n/a
46	GATA2	chr19:51266853-51267081	SH-SY5Y	brain:	n/a	n/a
47	HCFC1	chr19:51262953-51263595	Hela-S3	cervix:	n/a	n/a
48	HCFC1	chr19:51263086-51263540	K562	blood:	n/a	n/a
49	IRF1	chr19:51263115-51263527	K562	blood:	n/a	n/a
50	IRF1	chr19:51263147-51263495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51250310..51252824-chr19:51256019..51258689,3	K562	blood:
2	chr19:51261730..51264544-chr19:51297937..51299631,2	K562	blood:
3	chr19:51264409..51266482-chr19:51295781..51298327,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf48-4	chr19:51252772-51255391	ucscGeneNc_uc002pdz_1

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

Extended variants
information (count: 679 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368906107	chr19:51254660-51254661	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs575284901	chr19:51254682-51254683	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542774010	chr19:51254692-51254693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148208874	chr19:51254757-51254758	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs572883324	chr19:51254771-51254772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs117275621	chr19:51254798-51254799	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370253811	chr19:51254880-51254881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550238664	chr19:51254908-51254909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs190739843	chr19:51254925-51254926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532560508	chr19:51254949-51254950	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544775706	chr19:51254982-51254983	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562968449	chr19:51254988-51254989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141150704	chr19:51255006-51255007	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs181013641	chr19:51255030-51255031	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs150712347	chr19:51255035-51255036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs527683132	chr19:51255038-51255039	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546550791	chr19:51255062-51255063	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571533631	chr19:51255086-51255087	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538593077	chr19:51255131-51255132	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564120405	chr19:51255147-51255148	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs527433845	chr19:51255162-51255163	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532990068	chr19:51255186-51255187	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs8105151	chr19:51255311-51255312	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs12982732	chr19:51255338-51255339	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs185089873	chr19:51255345-51255346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs71355169	chr19:51255378-51255379	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs112553538	chr19:51255417-51255418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35766749	chr19:51255428-51255429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138097712	chr19:51255434-51255435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540246204	chr19:51255469-51255470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558300219	chr19:51255470-51255471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77114495	chr19:51255485-51255486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368239419	chr19:51255486-51255487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535375357	chr19:51255542-51255543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563087615	chr19:51255558-51255559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553979589	chr19:51255571-51255572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373045965	chr19:51255573-51255574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541875665	chr19:51255582-51255583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60867797	chr19:51255597-51255598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560235806	chr19:51255608-51255609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527646084	chr19:51255611-51255612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552530528	chr19:51255641-51255642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564355335	chr19:51255651-51255652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572125716	chr19:51255652-51255653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534323940	chr19:51255657-51255658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550643536	chr19:51255660-51255661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569024481	chr19:51255689-51255690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73585216	chr19:51255712-51255713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140556519	chr19:51255742-51255743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566554855	chr19:51255743-51255744	Weak transcription Enhancers	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:27 , 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	chr19:51250600-51255200	Weak transcription	Placenta	Placenta
3	chr19:51252000-51255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:51252200-51263000	Weak transcription	K562	blood
5	chr19:51255200-51256400	Enhancers	Placenta	Placenta
6	chr19:51255800-51256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:51255800-51256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:51255800-51256400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:51256000-51256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:51258800-51260200	Enhancers	Placenta	Placenta
11	chr19:51260200-51261600	Weak transcription	Placenta	Placenta
12	chr19:51261600-51261800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:51261600-51268000	Enhancers	Placenta	Placenta
14	chr19:51261800-51262000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:51261800-51262000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:51262000-51262200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:51262000-51263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:51262200-51273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:51263000-51263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:51263000-51264600	Enhancers	K562	blood
21	chr19:51264600-51269000	Weak transcription	K562	blood
22	chr19:51265800-51266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:51266000-51267000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:51266600-51267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr19:51267000-51267400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:51267000-51267400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:51267000-51267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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