Variant report

Variant	nsv829937
Chromosome Location	chr1:58258288-58406506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:558)
CpG islands
(count:550)
Chromatin interactive
region (count:9)
LncRNA
region (count:89)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:58314191-58314287	K562	blood:	n/a	n/a
2	ATF1	chr1:58281731-58281868	K562	blood:	n/a	n/a
3	BACH1	chr1:58301432-58301668	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr1:58345443-58345713	GM12878	blood:	n/a	chr1:58345609-58345618
5	BATF	chr1:58345479-58345719	GM12878	blood:	n/a	chr1:58345609-58345618
6	BCL11A	chr1:58391968-58392152	GM12878	blood:	n/a	chr1:58392001-58392010
7	BCL11A	chr1:58392628-58392940	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:58392680-58392931	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:58335285-58335350	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:58390932-58391128	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:58391913-58392359	GM12878	blood:	n/a	n/a
12	BRCA1	chr1:58290446-58290479	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr1:58283508-58283515	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr1:58262357-58262665	K562	blood:	n/a	n/a
15	CBX3	chr1:58307037-58307299	K562	blood:	n/a	n/a
16	CCNT2	chr1:58318030-58318288	K562	blood:	n/a	n/a
17	CEBPB	chr1:58389005-58389080	HepG2	liver:	n/a	chr1:58389054-58389065
18	CEBPB	chr1:58322659-58322810	K562	blood:	n/a	chr1:58322754-58322765
19	CEBPB	chr1:58275579-58275742	H1-hESC	embryonic stem cell:	n/a	chr1:58275648-58275659 chr1:58275650-58275659
20	CEBPB	chr1:58286368-58286720	IMR90	lung:	n/a	chr1:58286536-58286549 chr1:58286536-58286547
21	CEBPB	chr1:58290208-58290526	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:58316080-58316117	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:58322598-58322883	A549	lung:	n/a	chr1:58322754-58322765
24	CEBPB	chr1:58285698-58285738	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:58322590-58322877	HepG2	liver:	n/a	chr1:58322754-58322765
26	CEBPB	chr1:58297001-58297734	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:58286385-58286704	HepG2	liver:	n/a	chr1:58286536-58286549 chr1:58286536-58286547
28	CEBPB	chr1:58275491-58275818	HepG2	liver:	n/a	chr1:58275648-58275659 chr1:58275650-58275659
29	CEBPB	chr1:58301363-58301625	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:58286381-58286581	Hela-S3	cervix:	n/a	chr1:58286536-58286549 chr1:58286536-58286547
31	CEBPB	chr1:58286409-58286667	K562	blood:	n/a	chr1:58286536-58286549 chr1:58286536-58286547
32	CHD2	chr1:58312820-58312836	K562	blood:	n/a	n/a
33	CHD2	chr1:58391980-58392300	GM12878	blood:	n/a	n/a
34	CHD2	chr1:58390899-58391118	GM12878	blood:	n/a	n/a
35	CHD2	chr1:58345532-58345748	GM12878	blood:	n/a	n/a
36	CHD2	chr1:58392801-58392979	GM12878	blood:	n/a	n/a
37	CHD2	chr1:58359457-58359471	GM12878	blood:	n/a	n/a
38	CREB1	chr1:58301376-58301772	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr1:58328520-58328670	HFF	foreskin:	n/a	n/a
40	CTCF	chr1:58301460-58301610	HRPEpiC	eye:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
41	CTCF	chr1:58364318-58364439	Medullo	brain:	n/a	n/a
42	CTCF	chr1:58301420-58301570	NHEK	skin:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
43	CTCF	chr1:58301242-58301664	H1-hESC	embryonic stem cell:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
44	CTCF	chr1:58262343-58262387	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:58301400-58301550	HEEpiC	esophagus:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
46	CTCF	chr1:58382660-58382810	NHEK	skin:	n/a	n/a
47	CTCF	chr1:58301441-58301522	GM12892	blood:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
48	CTCF	chr1:58301419-58301560	MCF-7	breast:	n/a	chr1:58301470-58301483 chr1:58301469-58301490
49	CTCF	chr1:58382640-58382790	HMEC	breast:	n/a	n/a
50	CTCF	chr1:58301360-58301510	HMEC	breast:	n/a	chr1:58301470-58301483 chr1:58301469-58301490

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:58393137-58393187	RPTEC	kidney:	n/a
2	chr1:58393137-58393187	RPTEC	kidney:	n/a
3	chr1:58263321-58263371	Hepatocyte	liver:	n/a
4	chr1:58353581-58353631	GM12878	blood:	n/a
5	chr1:58331989-58332039	GM12892	blood:	n/a
6	chr1:58343668-58343718	PANC-1	pancreas:	n/a
7	chr1:58332862-58332912	GM12892	blood:	n/a
8	chr1:58325449-58325499	HCM	heart:	n/a
9	chr1:58343668-58343718	AG09309	skin:	n/a
10	chr1:58263321-58263371	GM12878	blood:	n/a
11	chr1:58333307-58333357	NHBE	bronchial:	n/a
12	chr1:58324995-58325045	Caco-2	colon:	n/a
13	chr1:58331989-58332039	NHDF-neo	bronchial:	n/a
14	chr1:58353581-58353631	ECC-1	luminal epithelium:	n/a
15	chr1:58324995-58325045	U87	brain:	n/a
16	chr1:58332862-58332912	ovcar-3	ovarian:	n/a
17	chr1:58393137-58393187	BJ	skin:	n/a
18	chr1:58331989-58332039	Jurkat	blood:	n/a
19	chr1:58353581-58353631	GM19239	blood:	n/a
20	chr1:58325449-58325499	T-47D	breast:	n/a
21	chr1:58332862-58332912	Caco-2	colon:	n/a
22	chr1:58324995-58325045	GM12878	blood:	n/a
23	chr1:58343668-58343718	HepG2	liver:	n/a
24	chr1:58343668-58343718	MCF10A-Er-Src	breast:	n/a
25	chr1:58333307-58333357	T-47D	breast:	n/a
26	chr1:58332862-58332912	HEK293	kidney:	embryo
27	chr1:58343668-58343718	NB4	blood:	n/a
28	chr1:58393137-58393187	AG04450	lung:	fetal
29	chr1:58393137-58393187	NHBE	bronchial:	n/a
30	chr1:58353581-58353631	U87	brain:	n/a
31	chr1:58263321-58263371	U87	brain:	n/a
32	chr1:58263321-58263371	SK-N-MC	brain:	n/a
33	chr1:58331989-58332039	ECC-1	luminal epithelium:	n/a
34	chr1:58332862-58332912	HIPEpiC	eye:	n/a
35	chr1:58324995-58325045	ECC-1	luminal epithelium:	n/a
36	chr1:58331989-58332039	NH-A	brain:	n/a
37	chr1:58343668-58343718	K562	blood:	n/a
38	chr1:58325449-58325499	AG04449	skin:	fetal
39	chr1:58331989-58332039	HRE	kidney:	n/a
40	chr1:58343668-58343718	CMK	blood:	n/a
41	chr1:58263321-58263371	HCT-116	colon:	n/a
42	chr1:58332862-58332912	GM12891	blood:	n/a
43	chr1:58333307-58333357	HCF	heart:	n/a
44	chr1:58325449-58325499	HL-60	blood:	n/a
45	chr1:58325449-58325499	NHBE	bronchial:	n/a
46	chr1:58393137-58393187	NH-A	brain:	n/a
47	chr1:58324995-58325045	HRE	kidney:	n/a
48	chr1:58325449-58325499	GM12891	blood:	n/a
49	chr1:58332862-58332912	AG09309	skin:	n/a
50	chr1:58332862-58332912	NT2-D1	testis:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:58314989..58316769-chr1:58318311..58321122,2	K562	blood:
2	chr1:58362313..58365047-chr1:58367118..58369976,3	K562	blood:
3	chr1:58333112..58336025-chr1:58408563..58410317,2	K562	blood:
4	chr1:58358016..58360181-chr1:58361121..58362700,2	MCF-7	breast:
5	chr1:58314989..58316769-chr1:58318311..58321122,2	K562	blood:
6	chr1:58362313..58363892-chr1:58368338..58369976,2	K562	blood:
7	chr1:58358016..58360181-chr1:58361121..58362700,2	MCF-7	breast:
8	chr1:58362313..58363892-chr1:58368338..58369976,2	K562	blood:
9	chr1:58362313..58365047-chr1:58367118..58369976,3	K562	blood:

(count:89 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8A-4	chr1:58326281-58326705	ENSG00000226759.3
2	lnc-C8A-4	chr1:58328127-58328191	ENSG00000226759.3
3	lnc-C8A-4	chr1:58330094-58330266	ENSG00000226759.3
4	lnc-C8A-4	chr1:58328127-58328599	ENSG00000226759.3
5	lnc-C8A-4	chr1:58328128-58328735	ENSG00000226759
6	lnc-C8A-4	chr1:58330379-58330713	ENSG00000226759.3
7	lnc-OMA1-4	chr1:58291743-58292127	NONHSAT003479
8	lnc-C8A-4	chr1:58328128-58328786	NR_104363
9	lnc-C8A-4	chr1:58346158-58346412	ENSG00000226759.3
10	lnc-C8A-4	chr1:58328127-58328191	ENSG00000226759.3
11	lnc-C8A-4	chr1:58328128-58328786	NR_104364
12	lnc-C8A-4	chr1:58330379-58330604	ENSG00000226759.3
13	lnc-C8A-4	chr1:58328127-58328712	ENSG00000226759.3
14	lnc-C8A-4	chr1:58328128-58328308	ENSG00000226759
15	lnc-C8A-4	chr1:58342403-58342514	ENSG00000226759.3
16	lnc-C8A-4	chr1:58326215-58326705	ENSG00000226759
17	lnc-C8A-4	chr1:58328106-58328450	ENSG00000226759.3
18	lnc-C8A-4	chr1:58326239-58326591	ENSG00000226759.3
19	lnc-C8A-4	chr1:58326253-58326544	ENSG00000226759.3
20	lnc-C8A-4	chr1:58346158-58346456	ENSG00000226759.3
21	lnc-C8A-4	chr1:58331974-58332072	ENSG00000226759.3
22	lnc-C8A-4	chr1:58343969-58344137	ENSG00000226759.3
23	lnc-C8A-4	chr1:58339639-58340013	ENSG00000226759.3
24	lnc-C8A-4	chr1:58339639-58339873	ENSG00000226759.3
25	lnc-C8A-4	chr1:58328127-58328712	ENSG00000226759.3
26	lnc-C8A-4	chr1:58328687-58328712	ENSG00000226759.3
27	lnc-C8A-4	chr1:58326311-58326598	ENSG00000226759.3
28	lnc-C8A-4	chr1:58330379-58330496	ENSG00000226759.3
29	lnc-C8A-4	chr1:58328128-58328475	ENSG00000226759.3
30	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
31	lnc-C8A-4	chr1:58328127-58328712	ENSG00000226759.3
32	lnc-C8A-4	chr1:58326215-58326581	NR_104364
33	lnc-OMA1-4	chr1:58349671-58349757	NONHSAT003479
34	lnc-C8A-4	chr1:58328128-58328475	ENSG00000226759.3
35	lnc-C8A-4	chr1:58326336-58326705	ENSG00000226759.3
36	lnc-C8A-4	chr1:58342403-58342514	ENSG00000226759.3
37	lnc-C8A-4	chr1:58340691-58340860	ENSG00000226759.3
38	lnc-C8A-4	chr1:58343969-58344139	ENSG00000226759.3
39	lnc-C8A-4	chr1:58331974-58332072	ENSG00000226759.3
40	lnc-C8A-4	chr1:58346158-58346577	ENSG00000226759.3
41	lnc-C8A-4	chr1:58328106-58328472	ENSG00000226759.3
42	lnc-C8A-4	chr1:58343969-58344016	ENSG00000226759.3
43	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
44	lnc-C8A-4	chr1:58326215-58326591	NR_104363
45	lnc-C8A-4	chr1:58326309-58326598	ENSG00000226759
46	lnc-C8A-4	chr1:58328127-58328191	ENSG00000226759.3
47	lnc-C8A-4	chr1:58328106-58328475	ENSG00000226759.3
48	lnc-C8A-4	chr1:58326204-58326598	ENSG00000226759.3
49	lnc-C8A-4	chr1:58343969-58344445	ENSG00000226759.3
50	lnc-C8A-4	chr1:58345791-58345941	ENSG00000226759.3

No data

Variant related genes	Relation type
DAB1-AS1	TF binding region
DAB1	TF binding region
DAB1-AS1	CpG island
DAB1	CpG island

Extended variants
information (count: 4467 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4467 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188418387	chr1:58258337-58258338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369532270	chr1:58258466-58258467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534673565	chr1:58258471-58258472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377268274	chr1:58258574-58258575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373348982	chr1:58258631-58258632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557761717	chr1:58258647-58258648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147726663	chr1:58258649-58258650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537170116	chr1:58258700-58258701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534491416	chr1:58258807-58258808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557070291	chr1:58258839-58258840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181235237	chr1:58258854-58258855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536487533	chr1:58258869-58258870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185690412	chr1:58258898-58258899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556959895	chr1:58258986-58258987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573209995	chr1:58259042-58259043	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544988367	chr1:58259091-58259092	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12068895	chr1:58259108-58259109	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190692352	chr1:58259156-58259157	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs58652222	chr1:58259168-58259169	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553141259	chr1:58259178-58259179	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs115449592	chr1:58259263-58259264	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561081512	chr1:58259270-58259271	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182074243	chr1:58259330-58259331	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187628490	chr1:58259348-58259349	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375289854	chr1:58259361-58259362	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574402748	chr1:58259372-58259373	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559600738	chr1:58259373-58259374	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1570595	chr1:58259463-58259464	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs1570596	chr1:58259509-58259510	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571309421	chr1:58259668-58259669	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575295359	chr1:58259686-58259687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372114556	chr1:58259701-58259702	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11207108	chr1:58259705-58259706	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140695974	chr1:58259726-58259727	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550787366	chr1:58259836-58259837	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573807081	chr1:58259837-58259838	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74072760	chr1:58259945-58259946	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12140531	chr1:58260028-58260029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141012269	chr1:58260034-58260035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538939371	chr1:58260037-58260038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77657113	chr1:58260067-58260068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575123947	chr1:58260072-58260073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12129754	chr1:58260093-58260094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560796549	chr1:58260114-58260115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574507866	chr1:58260123-58260124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192026438	chr1:58260149-58260150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145868552	chr1:58260172-58260173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375048180	chr1:58260177-58260178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148921989	chr1:58260181-58260182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551665529	chr1:58260182-58260183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58257600-58262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:58258000-58262400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:58258200-58259200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:58258600-58259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:58259000-58259800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:58259200-58259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:58259400-58259800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:58259800-58260000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:58259800-58260000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:58260000-58262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:58260000-58263800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:58260800-58261400	Enhancers	Fetal Brain Male	brain
13	chr1:58261400-58261800	Weak transcription	Fetal Brain Male	brain
14	chr1:58261800-58267400	Enhancers	Fetal Brain Male	brain
15	chr1:58262200-58262600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:58262200-58262600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:58262200-58262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:58262200-58262800	Enhancers	HMEC	breast
19	chr1:58262200-58263000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:58262200-58264000	Enhancers	Fetal Brain Female	brain
21	chr1:58262400-58262800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:58262400-58262800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:58262400-58262800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:58262400-58262800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:58262400-58262800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:58262400-58263000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:58262400-58263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:58262400-58263200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:58262400-58263200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:58262400-58263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:58262400-58264400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:58262400-58264600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:58262800-58263800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:58263000-58264000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:58263200-58263600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:58263200-58263600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:58263400-58263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:58263600-58264400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:58263600-58264400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:58263800-58264400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:58263800-58264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:58263800-58265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:58264000-58264400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:58264000-58264400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:58264000-58265600	Weak transcription	Fetal Brain Female	brain
46	chr1:58264000-58266400	Enhancers	Fetal Lung	lung
47	chr1:58264600-58268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:58264800-58265800	Enhancers	Fetal Stomach	stomach
49	chr1:58265400-58265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:58265600-58266400	Enhancers	Fetal Brain Female	brain

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