Variant report

Variant	nsv817855
Chromosome Location	chr19:51260989-51263510
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	chr19:51263101-51263642	A549	lung:	n/a	chr19:51263448-51263459
6	CEBPB	chr19:51263204-51263640	MCF-7	breast:	n/a	chr19:51263448-51263459
7	CEBPB	chr19:51263262-51263640	IMR90	lung:	n/a	chr19:51263448-51263459
8	CEBPB	chr19:51263273-51263642	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
9	CEBPB	chr19:51263261-51263636	HepG2	liver:	n/a	chr19:51263448-51263459
10	CEBPB	chr19:51263175-51263636	Hela-S3	cervix:	n/a	chr19:51263448-51263459
11	CEBPB	chr19:51263228-51263684	A549	lung:	n/a	chr19:51263448-51263459
12	CEBPB	chr19:51263149-51263649	K562	blood:	n/a	chr19:51263448-51263459
13	CEBPB	chr19:51263143-51263622	K562	blood:	n/a	chr19:51263448-51263459
14	CEBPB	chr19:51263301-51263537	K562	blood:	n/a	chr19:51263448-51263459
15	CEBPB	chr19:51263182-51263643	A549	lung:	n/a	chr19:51263448-51263459
16	CEBPB	chr19:51263226-51263641	H1-hESC	embryonic stem cell:	n/a	chr19:51263448-51263459
17	CEBPB	chr19:51263161-51263648	MCF-7	breast:	n/a	chr19:51263448-51263459
18	CEBPB	chr19:51263279-51263520	ECC-1	luminal epithelium:	n/a	chr19:51263448-51263459
19	CHD2	chr19:51263138-51263480	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr19:51263145-51263466	K562	blood:	n/a	n/a
21	ELF1	chr19:51263226-51263485	GM12878	blood:	n/a	n/a
22	ELF1	chr19:51263180-51263554	A549	lung:	n/a	n/a
23	ELF1	chr19:51263160-51263539	MCF-7	breast:	n/a	n/a
24	ELF1	chr19:51263104-51263493	A549	lung:	n/a	n/a
25	ELF1	chr19:51263195-51263521	SK-N-SH	brain:	n/a	n/a
26	ELF1	chr19:51263096-51263583	K562	blood:	n/a	n/a
27	ELF1	chr19:51262976-51263639	HCT-116	colon:	n/a	n/a
28	ELF1	chr19:51263221-51263490	K562	blood:	n/a	n/a
29	EP300	chr19:51263177-51263465	K562	blood:	n/a	n/a
30	ETS1	chr19:51263085-51263506	A549	lung:	n/a	n/a
31	ETS1	chr19:51263096-51263444	A549	lung:	n/a	n/a
32	FOS	chr19:51263139-51263507	K562	blood:	n/a	n/a
33	FOXA2	chr19:51262281-51262789	A549	lung:	n/a	n/a
34	HCFC1	chr19:51263086-51263540	K562	blood:	n/a	n/a
35	HCFC1	chr19:51262953-51263595	Hela-S3	cervix:	n/a	n/a
36	IRF1	chr19:51263147-51263495	K562	blood:	n/a	n/a
37	IRF1	chr19:51263115-51263527	K562	blood:	n/a	n/a
38	IRF3	chr19:51263211-51263348	GM12878	blood:	n/a	n/a
39	JUND	chr19:51263188-51263476	K562	blood:	n/a	n/a
40	MAX	chr19:51262978-51263464	K562	blood:	n/a	chr19:51263302-51263312
41	MAX	chr19:51263174-51263478	A549	lung:	n/a	chr19:51263302-51263312
42	MAX	chr19:51263123-51263421	K562	blood:	n/a	chr19:51263302-51263312
43	MAX	chr19:51263113-51263491	NB4	blood:	n/a	chr19:51263302-51263312
44	MAX	chr19:51263202-51263447	GM12878	blood:	n/a	chr19:51263302-51263312
45	MAX	chr19:51263139-51263485	K562	blood:	n/a	chr19:51263302-51263312
46	MAX	chr19:51263134-51263482	H1-hESC	embryonic stem cell:	n/a	chr19:51263302-51263312
47	MAX	chr19:51263122-51263484	K562	blood:	n/a	chr19:51263302-51263312
48	MYC	chr19:51263163-51263421	NB4	blood:	n/a	chr19:51263302-51263312
49	MYC	chr19:51263106-51263486	K562	blood:	n/a	chr19:51263302-51263312
50	MYC	chr19:51263073-51263464	K562	blood:	n/a	chr19:51263302-51263312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51261730..51264544-chr19:51297937..51299631,2	K562	blood:

Variant related genes	Relation type
GPR32P1	TF binding region

Extended variants
information (count: 161 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7245984	chr19:51260989-51260990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200773575	chr19:51261048-51261049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7246110	chr19:51261051-51261052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114451447	chr19:51261075-51261076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576469630	chr19:51261085-51261086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7246125	chr19:51261095-51261096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555824491	chr19:51261108-51261109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574641215	chr19:51261133-51261134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542147758	chr19:51261145-51261146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560049288	chr19:51261146-51261147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572209108	chr19:51261173-51261174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545553204	chr19:51261209-51261210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563856056	chr19:51261210-51261211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531340459	chr19:51261251-51261252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372790573	chr19:51261260-51261261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146065264	chr19:51261274-51261275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189242303	chr19:51261281-51261282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548069466	chr19:51261329-51261330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149510523	chr19:51261339-51261340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143115148	chr19:51261342-51261343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138876408	chr19:51261383-51261384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs193099312	chr19:51261386-51261387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374665601	chr19:51261395-51261396	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374700998	chr19:51261396-51261397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs202184085	chr19:51261408-51261409	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376978246	chr19:51261410-51261411	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146327260	chr19:51261411-51261412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs535343242	chr19:51261424-51261425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535231459	chr19:51261433-51261434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs185119552	chr19:51261448-51261449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545580117	chr19:51261466-51261467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557561252	chr19:51261472-51261473	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112233711	chr19:51261507-51261508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs568502652	chr19:51261522-51261523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372086691	chr19:51261546-51261547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561310778	chr19:51261564-51261565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376075025	chr19:51261624-51261625	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73046514	chr19:51261635-51261636	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141836767	chr19:51261645-51261646	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112749815	chr19:51261654-51261655	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570310740	chr19:51261684-51261685	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139938743	chr19:51261735-51261736	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116022451	chr19:51261744-51261745	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371890980	chr19:51261747-51261748	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567517741	chr19:51261769-51261770	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575030665	chr19:51261795-51261796	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117611112	chr19:51261825-51261826	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188996701	chr19:51261828-51261829	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73046516	chr19:51261829-51261830	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557524811	chr19:51261841-51261842	Enhancers Genic enhancers 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:12 , 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	chr19:51260200-51261600	Weak transcription	Placenta	Placenta
4	chr19:51261600-51261800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:51261600-51268000	Enhancers	Placenta	Placenta
6	chr19:51261800-51262000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:51261800-51262000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51262000-51262200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:51262000-51263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:51262200-51273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:51263000-51263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:51263000-51264600	Enhancers	K562	blood

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