Variant report

Variant	nsv442469
Chromosome Location	chr19:51257250-51266041
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	chr19:51263137-51263443	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	chr19:51263204-51263640	MCF-7	breast:	n/a	chr19:51263448-51263459
6	CEBPB	chr19:51263182-51263643	A549	lung:	n/a	chr19:51263448-51263459
7	CEBPB	chr19:51263261-51263636	HepG2	liver:	n/a	chr19:51263448-51263459
8	CEBPB	chr19:51263301-51263537	K562	blood:	n/a	chr19:51263448-51263459
9	CEBPB	chr19:51263262-51263640	IMR90	lung:	n/a	chr19:51263448-51263459
10	CEBPB	chr19:51264181-51264359	K562	blood:	n/a	n/a
11	CEBPB	chr19:51263226-51263641	H1-hESC	embryonic stem cell:	n/a	chr19:51263448-51263459
12	CEBPB	chr19:51263273-51263642	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
13	CEBPB	chr19:51263228-51263684	A549	lung:	n/a	chr19:51263448-51263459
14	CEBPB	chr19:51263175-51263636	Hela-S3	cervix:	n/a	chr19:51263448-51263459
15	CEBPB	chr19:51263101-51263642	A549	lung:	n/a	chr19:51263448-51263459
16	CEBPB	chr19:51263143-51263622	K562	blood:	n/a	chr19:51263448-51263459
17	CEBPB	chr19:51263149-51263649	K562	blood:	n/a	chr19:51263448-51263459
18	CEBPB	chr19:51263279-51263520	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
19	CEBPB	chr19:51263161-51263648	MCF-7	breast:	n/a	chr19:51263448-51263459
20	CHD2	chr19:51263138-51263480	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr19:51263145-51263466	K562	blood:	n/a	n/a
22	CTCF	chr19:51259442-51259509	GM20000	blood:	n/a	n/a
23	CTCF	chr19:51259665-51259695	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr19:51265892-51265951	GM20000	blood:	n/a	n/a
25	CTCF	chr19:51259702-51259707	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr19:51265307-51265507	K562	blood:	n/a	n/a
27	EGR1	chr19:51265351-51265495	K562	blood:	n/a	n/a
28	ELF1	chr19:51263195-51263521	SK-N-SH	brain:	n/a	n/a
29	ELF1	chr19:51263104-51263493	A549	lung:	n/a	n/a
30	ELF1	chr19:51263096-51263583	K562	blood:	n/a	n/a
31	ELF1	chr19:51262976-51263639	HCT-116	colon:	n/a	n/a
32	ELF1	chr19:51263160-51263539	MCF-7	breast:	n/a	n/a
33	ELF1	chr19:51263221-51263490	K562	blood:	n/a	n/a
34	ELF1	chr19:51263226-51263485	GM12878	blood:	n/a	n/a
35	ELF1	chr19:51263180-51263554	A549	lung:	n/a	n/a
36	EP300	chr19:51263177-51263465	K562	blood:	n/a	n/a
37	ETS1	chr19:51263085-51263506	A549	lung:	n/a	n/a
38	ETS1	chr19:51263096-51263444	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	FOXA2	chr19:51262281-51262789	A549	lung:	n/a	n/a
42	HCFC1	chr19:51263086-51263540	K562	blood:	n/a	n/a
43	HCFC1	chr19:51262953-51263595	Hela-S3	cervix:	n/a	n/a
44	IRF1	chr19:51263147-51263495	K562	blood:	n/a	n/a
45	IRF1	chr19:51263115-51263527	K562	blood:	n/a	n/a
46	IRF3	chr19:51263211-51263348	GM12878	blood:	n/a	n/a
47	JUN	chr19:51264215-51264327	K562	blood:	n/a	n/a
48	JUND	chr19:51263188-51263476	K562	blood:	n/a	n/a
49	MAX	chr19:51263202-51263447	GM12878	blood:	n/a	chr19:51263302-51263312
50	MAX	chr19:51264185-51264542	K562	blood:	n/a	n/a

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

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

Extended variants
information (count: 476 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547396852	chr19:51257262-51257263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565833536	chr19:51257263-51257264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74268487	chr19:51257273-51257274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569843040	chr19:51257281-51257282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202024677	chr19:51257290-51257291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200235400	chr19:51257295-51257296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372095449	chr19:51257380-51257381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186856883	chr19:51257381-51257382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567746749	chr19:51257388-51257389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113877702	chr19:51257416-51257417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374198358	chr19:51257425-51257426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376008556	chr19:51257431-51257432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578003250	chr19:51257432-51257433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574086500	chr19:51257461-51257462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369550994	chr19:51257462-51257463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73044695	chr19:51257463-51257464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558038986	chr19:51257465-51257466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569460719	chr19:51257529-51257530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561992633	chr19:51257530-51257531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75450866	chr19:51257542-51257543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553718417	chr19:51257591-51257592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575807082	chr19:51257596-51257597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139138526	chr19:51257635-51257636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561571516	chr19:51257650-51257651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117311430	chr19:51257679-51257680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150016774	chr19:51257721-51257722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73044697	chr19:51257733-51257734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532944133	chr19:51257788-51257789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551758951	chr19:51257789-51257790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116703061	chr19:51257828-51257829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35014432	chr19:51257835-51257836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117272185	chr19:51257857-51257858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192430902	chr19:51257959-51257960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144284016	chr19:51257968-51257969	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs185804650	chr19:51257972-51257973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535114382	chr19:51257985-51257986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112894840	chr19:51257993-51257994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189929831	chr19:51258000-51258001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116826505	chr19:51258011-51258012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557736087	chr19:51258091-51258092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527986814	chr19:51258106-51258107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560033973	chr19:51258134-51258135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143542589	chr19:51258139-51258140	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs146878436	chr19:51258148-51258149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs193194170	chr19:51258156-51258157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62114263	chr19:51258159-51258160	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111881027	chr19:51258162-51258163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528881180	chr19:51258167-51258168	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs58220021	chr19:51258181-51258182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs144420630	chr19:51258215-51258216	Weak transcription	TF binding region	1 gene(s)	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:16 , 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

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