Variant report

Variant	nsv1067557
Chromosome Location	chr19:53195426-53319092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1979)
CpG islands
(count:2261)
Chromatin interactive
region (count:23)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53227189-53227366	K562	blood:	n/a	n/a
2	ARID3A	chr19:53228340-53228382	K562	blood:	n/a	n/a
3	ARID3A	chr19:53228598-53228749	K562	blood:	n/a	n/a
4	ARID3A	chr19:53195806-53196040	K562	blood:	n/a	n/a
5	ARID3A	chr19:53199511-53199604	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:53227580-53227746	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:53238204-53238593	HepG2	liver:	n/a	n/a
8	ATF1	chr19:53219224-53219418	K562	blood:	n/a	n/a
9	ATF1	chr19:53238100-53238672	K562	blood:	n/a	n/a
10	ATF1	chr19:53289778-53290273	K562	blood:	n/a	n/a
11	ATF1	chr19:53227069-53227523	K562	blood:	n/a	n/a
12	ATF1	chr19:53260119-53260246	K562	blood:	n/a	n/a
13	ATF1	chr19:53233027-53233245	K562	blood:	n/a	n/a
14	ATF2	chr19:53239019-53239370	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr19:53238937-53239428	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr19:53281984-53282357	GM12878	blood:	n/a	n/a
17	ATF3	chr19:53228814-53229132	K562	blood:	n/a	n/a
18	ATF3	chr19:53238046-53238465	K562	blood:	n/a	n/a
19	BACH1	chr19:53289805-53290074	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:53238107-53238408	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr19:53245915-53246089	GM12878	blood:	n/a	chr19:53245986-53245996 chr19:53245985-53245996 chr19:53245990-53246000
22	BATF	chr19:53281931-53282380	GM12878	blood:	n/a	chr19:53282197-53282207 chr19:53282192-53282203 chr19:53282193-53282203
23	BATF	chr19:53245884-53246161	GM12878	blood:	n/a	chr19:53245986-53245996 chr19:53245985-53245996 chr19:53245990-53246000
24	BATF	chr19:53294643-53295039	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
25	BATF	chr19:53218901-53219394	GM12878	blood:	n/a	chr19:53219199-53219209 chr19:53219203-53219213
26	BATF	chr19:53243525-53243726	GM12878	blood:	n/a	n/a
27	BATF	chr19:53218901-53219396	GM12878	blood:	n/a	chr19:53219199-53219209 chr19:53219203-53219213
28	BATF	chr19:53281917-53282463	GM12878	blood:	n/a	chr19:53282197-53282207 chr19:53282192-53282203 chr19:53282193-53282203
29	BATF	chr19:53294543-53294932	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
30	BCL11A	chr19:53219022-53219347	GM12878	blood:	n/a	chr19:53219201-53219210
31	BCL11A	chr19:53282016-53282371	GM12878	blood:	n/a	chr19:53282195-53282204
32	BCL11A	chr19:53197538-53197794	GM12878	blood:	n/a	n/a
33	BCL11A	chr19:53282060-53282342	GM12878	blood:	n/a	chr19:53282195-53282204
34	BCL11A	chr19:53219085-53219334	GM12878	blood:	n/a	chr19:53219201-53219210
35	BCL11A	chr19:53238080-53238304	GM12878	blood:	n/a	n/a
36	BCL11A	chr19:53240555-53240723	GM12878	blood:	n/a	n/a
37	BCL3	chr19:53235753-53236010	GM12878	blood:	n/a	n/a
38	BCLAF1	chr19:53289804-53290138	GM12878	blood:	n/a	n/a
39	BCLAF1	chr19:53237957-53238447	GM12878	blood:	n/a	chr19:53238422-53238435
40	BHLHE40	chr19:53228364-53229160	K562	blood:	n/a	n/a
41	BHLHE40	chr19:53229503-53229523	K562	blood:	n/a	n/a
42	BHLHE40	chr19:53289858-53290162	K562	blood:	n/a	chr19:53290133-53290149
43	BHLHE40	chr19:53227179-53227448	K562	blood:	n/a	n/a
44	BHLHE40	chr19:53195775-53196073	GM12878	blood:	n/a	n/a
45	BHLHE40	chr19:53195726-53196072	K562	blood:	n/a	n/a
46	BHLHE40	chr19:53238239-53238453	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:53282085-53282438	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:53289647-53290152	GM12878	blood:	n/a	chr19:53290133-53290149
49	BHLHE40	chr19:53238124-53238500	K562	blood:	n/a	n/a
50	BRCA1	chr19:53238025-53238612	Hela-S3	cervix:	n/a	n/a

(count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53233164-53233214	HCF	heart:	n/a
2	chr19:53238254-53238304	GM19239	blood:	n/a
3	chr19:53238492-53238542	A549	lung:	n/a
4	chr19:53237862-53237912	AG09319	gingival:	n/a
5	chr19:53233164-53233214	HCF	heart:	n/a
6	chr19:53238254-53238304	GM19239	blood:	n/a
7	chr19:53238492-53238542	A549	lung:	n/a
8	chr19:53237862-53237912	AG09319	gingival:	n/a
9	chr19:53269486-53269536	ovcar-3	ovarian:	n/a
10	chr19:53290147-53290197	NB4	blood:	n/a
11	chr19:53290102-53290152	PFSK-1	brain:	n/a
12	chr19:53290445-53290495	PANC-1	pancreas:	n/a
13	chr19:53234126-53234176	HNPCEpiC	eye:	n/a
14	chr19:53238413-53238463	ovcar-3	ovarian:	n/a
15	chr19:53233245-53233295	PrEC	prostate:	n/a
16	chr19:53237862-53237912	HL-60	blood:	n/a
17	chr19:53239146-53239196	HAEpiC	amniotic membrane:	n/a
18	chr19:53289524-53289574	GM06990	blood:	n/a
19	chr19:53225441-53225491	K562	blood:	n/a
20	chr19:53289524-53289574	ProgFib	skin:	n/a
21	chr19:53228974-53229024	SAEC	small airway:	n/a
22	chr19:53239200-53239250	AG10803	skin:	n/a
23	chr19:53237862-53237912	AG09309	skin:	n/a
24	chr19:53237862-53237912	HCT-116	colon:	n/a
25	chr19:53237871-53237921	PrEC	prostate:	n/a
26	chr19:53238337-53238387	AoSMC	blood vessel:	n/a
27	chr19:53302456-53302506	HRE	kidney:	n/a
28	chr19:53290079-53290129	PFSK-1	brain:	n/a
29	chr19:53290147-53290197	GM12891	blood:	n/a
30	chr19:53290079-53290129	BJ	skin:	n/a
31	chr19:53233368-53233418	HNPCEpiC	eye:	n/a
32	chr19:53290445-53290495	HMEC	breast:	n/a
33	chr19:53237871-53237921	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:53290445-53290495	GM06990	blood:	n/a
35	chr19:53237871-53237921	HRPEpiC	eye:	n/a
36	chr19:53228974-53229024	AG10803	skin:	n/a
37	chr19:53207899-53207949	SK-N-MC	brain:	n/a
38	chr19:53238492-53238542	AoSMC	blood vessel:	n/a
39	chr19:53242420-53242470	LNCaP	prostate:	n/a
40	chr19:53237871-53237921	HMEC	breast:	n/a
41	chr19:53290079-53290129	HNPCEpiC	eye:	n/a
42	chr19:53238337-53238387	MCF-7	breast:	n/a
43	chr19:53237862-53237912	PFSK-1	brain:	n/a
44	chr19:53237862-53237912	AG10803	skin:	n/a
45	chr19:53238445-53238495	PANC-1	pancreas:	n/a
46	chr19:53228974-53229024	NHBE	bronchial:	n/a
47	chr19:53233164-53233214	ECC-1	luminal epithelium:	n/a
48	chr19:53293012-53293062	Jurkat	blood:	n/a
49	chr19:53233245-53233295	HCM	heart:	n/a
50	chr19:53238498-53238548	SKMC	muscle:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53227707..53230460-chr19:53236213..53239636,6	K562	blood:
2	chr19:53280779..53283746-chr19:53287922..53290818,5	K562	blood:
3	chr19:53227642..53230112-chr19:53236849..53239461,2	K562	blood:
4	chr19:53288948..53291766-chr19:53301308..53304079,2	K562	blood:
5	chr19:53284850..53287271-chr19:53288897..53290598,2	MCF-7	breast:
6	chr19:53236244..53237950-chr19:53242142..53244901,2	K562	blood:
7	chr19:53199473..53201886-chr19:53208932..53211700,2	K562	blood:
8	chr19:53115970..53118193-chr19:53236786..53238588,2	K562	blood:
9	chr14:93214475..93215046-chr19:53237894..53238692,2	Hela-S3	cervix:
10	chr19:53226674..53228672-chr19:53232730..53234940,2	K562	blood:
11	chr19:53296635..53299410-chr19:53311177..53313587,2	K562	blood:
12	chr19:53233250..53234773-chr19:53236233..53238057,2	K562	blood:
13	chr19:53226674..53228672-chr19:53232730..53234940,2	K562	blood:
14	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:
15	chr19:53236244..53237950-chr19:53242142..53244901,2	K562	blood:
16	chr19:53227707..53230460-chr19:53236213..53239636,6	K562	blood:
17	chr19:53199473..53201886-chr19:53208932..53211700,2	K562	blood:
18	chr19:53237008..53239147-chr19:53540786..53542527,2	MCF-7	breast:
19	chr19:53215678..53217452-chr19:53219568..53222029,2	K562	blood:
20	chr19:53236450..53239197-chr19:53240698..53243642,2	K562	blood:
21	chr19:53227642..53230112-chr19:53236849..53239461,2	K562	blood:
22	chr19:53215678..53217452-chr19:53219568..53222029,2	K562	blood:
23	chr19:53233250..53234773-chr19:53236233..53238057,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF600-1	chr19:53289848-53290024	NONHSAT067584
2	lnc-ZNF83-5	chr19:53233159-53233258	NONHSAT067579
3	lnc-ZNF83-5	chr19:53238254-53238268	NONHSAT067580
4	lnc-ZNF83-5	chr19:53233159-53233258	NONHSAT067580
5	lnc-ZNF83-3	chr19:53211674-53212084	NONHSAT067577
6	lnc-ZNF83-5	chr19:53231983-53232084	NONHSAT067579
7	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589
8	lnc-ZNF600-1	chr19:53283906-53284308	NONHSAT067582
9	lnc-ZNF83-5	chr19:53227124-53227242	NONHSAT067579
10	lnc-ZNF701-2	chr19:53300917-53301869	NONHSAT067585
11	lnc-ZNF83-5	chr19:53238254-53238326	NONHSAT067579
12	lnc-ZNF83-5	chr19:53226674-53227917	NONHSAT067581
13	lnc-ZNF701-2	chr19:53301030-53301858	NONHSAT067586
14	lnc-ZNF600-1	chr19:53284081-53284308	NONHSAT067583
15	lnc-ZNF83-5	chr19:53224436-53224520	NONHSAT067580
16	lnc-ZNF83-5	chr19:53224406-53224520	NONHSAT067579
17	lnc-ZNF83-3	chr19:53211457-53211582	NONHSAT067577
18	lnc-ZNF468-3	chr19:53311129-53311386	NONHSAT067588
19	lnc-ZNF83-5	chr19:53231983-53232084	NONHSAT067580
20	lnc-ZNF600-1	chr19:53289848-53290044	NONHSAT067582
21	lnc-ZNF600-1	chr19:53284570-53284717	NONHSAT067583
22	lnc-ZNF600-1	chr19:53289848-53289977	NONHSAT067583
23	lnc-ZNF600-1	chr19:53284245-53284717	NONHSAT067584

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF611	hsa-miR-155-5p	chr19:53207486-53207509
2	ZNF28	hsa-miR-155-5p	chr19:53301585-53301611
3	ZNF28	hsa-miR-155-5p	chr19:53301652-53301677

Variant related genes	Relation type
ENSG00000255875	TF binding region
ZNF611	TF binding region
ZNF600	TF binding region
ZNF28	TF binding region
ZNF83	TF binding region
ENSG00000255875	CpG island
ZNF611	CpG island
ZNF600	CpG island
ZNF28	CpG island
ZNF83	CpG island
ENSG00000189190	chromatin interactions
ENSG00000213020	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000242779	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000255875	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000100600	chromatin interactions
PCBP2	miRNA target sites
LMNB1	miRNA target sites
HAUS6	miRNA target sites

Extended variants
information (count: 6792 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6792 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4802981	chr19:53195426-53195427	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548023607	chr19:53195452-53195453	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs184458102	chr19:53195517-53195518	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111542151	chr19:53195547-53195548	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537364148	chr19:53195589-53195590	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs533564242	chr19:53195595-53195596	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs4802982	chr19:53195596-53195597	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs569392980	chr19:53195600-53195601	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536717150	chr19:53195644-53195645	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554956502	chr19:53195653-53195654	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566879893	chr19:53195660-53195661	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs202050695	chr19:53195662-53195663	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs202154633	chr19:53195663-53195664	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs369205890	chr19:53195672-53195673	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114564941	chr19:53195715-53195716	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113052471	chr19:53195723-53195724	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs4802983	chr19:53195735-53195736	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532355150	chr19:53195742-53195743	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145578128	chr19:53195743-53195744	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs147733532	chr19:53195753-53195754	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs576625786	chr19:53195755-53195756	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs74182404	chr19:53195761-53195762	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562867960	chr19:53195767-53195768	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs574081369	chr19:53195768-53195769	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541403430	chr19:53195770-53195771	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs6509679	chr19:53195789-53195790	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573653790	chr19:53195795-53195796	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs181462048	chr19:53195851-53195852	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs563502742	chr19:53195926-53195927	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369162414	chr19:53195936-53195937	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186154196	chr19:53196007-53196008	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548620077	chr19:53196008-53196009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373924794	chr19:53196045-53196046	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111779682	chr19:53196078-53196079	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs141103236	chr19:53196080-53196081	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546611982	chr19:53196086-53196087	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116555917	chr19:53196097-53196098	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538522122	chr19:53196119-53196120	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs557202245	chr19:53196131-53196132	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138699676	chr19:53196159-53196160	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4802984	chr19:53196202-53196203	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs527273869	chr19:53196204-53196205	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs8101715	chr19:53196408-53196409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574115415	chr19:53196442-53196443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180801745	chr19:53196456-53196457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186400830	chr19:53196484-53196485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578210546	chr19:53196505-53196506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148937896	chr19:53196524-53196525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190801534	chr19:53196576-53196577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183141904	chr19:53196580-53196581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Adenoid cystic carcinoma	18698036	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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3683 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53194200-53195600	Flanking Active TSS	K562	blood
2	chr19:53194200-53207200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53194400-53196800	Weak transcription	Small Intestine	intestine
4	chr19:53194400-53197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:53194400-53197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53194600-53195600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr19:53194600-53208400	Weak transcription	Hela-S3	cervix
8	chr19:53194600-53208800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:53194800-53195800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:53194800-53196400	Weak transcription	Placenta	Placenta
11	chr19:53194800-53202600	Weak transcription	Stomach Mucosa	stomach
12	chr19:53194800-53205000	Weak transcription	Fetal Brain Female	brain
13	chr19:53194800-53207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:53194800-53207600	Weak transcription	Brain Anterior Caudate	brain
15	chr19:53194800-53208400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:53194800-53218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:53195000-53196000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:53195000-53207800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:53195000-53210600	Weak transcription	Fetal Stomach	stomach
20	chr19:53195200-53196000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:53195200-53207200	Weak transcription	Brain Germinal Matrix	brain
22	chr19:53195200-53207400	Weak transcription	Dnd41	blood
23	chr19:53195200-53207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:53195600-53196000	Enhancers	K562	blood
25	chr19:53195800-53196000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:53196000-53196200	Flanking Active TSS	K562	blood
27	chr19:53196000-53196400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:53196000-53197200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:53196200-53196600	Enhancers	K562	blood
30	chr19:53196400-53196800	Enhancers	Placenta	Placenta
31	chr19:53196400-53197200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:53196800-53198000	Weak transcription	Placenta	Placenta
33	chr19:53197200-53197400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:53197200-53198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:53197200-53198800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:53197400-53198000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:53198000-53199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:53198000-53199800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:53198000-53201200	Enhancers	Placenta	Placenta
40	chr19:53198800-53202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:53199400-53199600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr19:53199400-53199600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr19:53199400-53199600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr19:53199400-53199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:53199600-53200000	Enhancers	HepG2	liver
46	chr19:53199600-53207800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:53199600-53208800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:53199800-53200000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:53199800-53207400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:53200000-53202000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links