Variant report

Variant	nsv482160
Chromosome Location	chr11:67758575-67771593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1109)
CpG islands
(count:976)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1109 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67764516-67764536	K562	blood:	n/a	n/a
2	ARID3A	chr11:67769722-67769736	HepG2	liver:	n/a	n/a
3	ATF2	chr11:67764062-67764385	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:67771439-67771886	GM12878	blood:	n/a	n/a
5	ATF3	chr11:67764283-67764396	GM12878	blood:	n/a	n/a
6	ATF3	chr11:67771495-67771797	K562	blood:	n/a	chr11:67771598-67771607
7	ATF3	chr11:67771505-67771926	A549	lung:	n/a	chr11:67771598-67771607
8	ATF3	chr11:67764134-67764475	K562	blood:	n/a	n/a
9	BACH1	chr11:67771542-67771872	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:67761470-67761584	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:67763868-67764564	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:67758519-67758667	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr11:67761292-67761697	GM12878	blood:	n/a	n/a
14	BCL11A	chr11:67761175-67761715	GM12878	blood:	n/a	chr11:67761600-67761608
15	BCL3	chr11:67764009-67764693	A549	lung:	n/a	n/a
16	BCL3	chr11:67764221-67765106	A549	lung:	n/a	n/a
17	BCL3	chr11:67770938-67771181	GM12878	blood:	n/a	chr11:67770982-67770991 chr11:67770983-67770996 chr11:67771018-67771027 chr11:67771028-67771037
18	BCLAF1	chr11:67770818-67771249	GM12878	blood:	n/a	chr11:67770982-67770991 chr11:67770983-67770996 chr11:67771018-67771027 chr11:67771028-67771037
19	BCLAF1	chr11:67771345-67771879	GM12878	blood:	n/a	chr11:67771597-67771606
20	BHLHE40	chr11:67771448-67771870	GM12878	blood:	n/a	n/a
21	BHLHE40	chr11:67771468-67771833	HepG2	liver:	n/a	n/a
22	BHLHE40	chr11:67770874-67771243	GM12878	blood:	n/a	chr11:67770996-67771012
23	BHLHE40	chr11:67769596-67769806	HepG2	liver:	n/a	n/a
24	BHLHE40	chr11:67769526-67770501	GM12878	blood:	n/a	n/a
25	BHLHE40	chr11:67771019-67771237	K562	blood:	n/a	n/a
26	BHLHE40	chr11:67763941-67764724	K562	blood:	n/a	n/a
27	BHLHE40	chr11:67769512-67769893	HepG2	liver:	n/a	n/a
28	BHLHE40	chr11:67761387-67761520	GM12878	blood:	n/a	n/a
29	BHLHE40	chr11:67771479-67771917	K562	blood:	n/a	n/a
30	BHLHE40	chr11:67769551-67769812	K562	blood:	n/a	n/a
31	BRCA1	chr11:67761315-67761489	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr11:67770167-67770264	GM12878	blood:	n/a	n/a
33	BRCA1	chr11:67771546-67771824	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr11:67771431-67771960	K562	blood:	n/a	n/a
35	CBX3	chr11:67761252-67761672	K562	blood:	n/a	n/a
36	CBX3	chr11:67763965-67764398	K562	blood:	n/a	n/a
37	CBX3	chr11:67763950-67764711	K562	blood:	n/a	n/a
38	CCNT2	chr11:67771388-67771832	K562	blood:	n/a	n/a
39	CCNT2	chr11:67764125-67764664	K562	blood:	n/a	chr11:67764625-67764634 chr11:67764384-67764393
40	CCNT2	chr11:67770775-67771179	K562	blood:	n/a	chr11:67770977-67770986 chr11:67770971-67770980
41	CEBPB	chr11:67764309-67764493	K562	blood:	n/a	n/a
42	CEBPB	chr11:67764367-67764537	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr11:67764220-67764583	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr11:67771556-67771766	Hela-S3	cervix:	n/a	n/a
45	CHD1	chr11:67771380-67771877	GM12878	blood:	n/a	n/a
46	CHD1	chr11:67770929-67770946	GM12878	blood:	n/a	n/a
47	CHD1	chr11:67770034-67770196	GM12878	blood:	n/a	n/a
48	CHD2	chr11:67771005-67771072	GM12878	blood:	n/a	chr11:67771041-67771051
49	CHD2	chr11:67771405-67771775	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr11:67764425-67764548	K562	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67765204-67765254	PANC-1	pancreas:	n/a
2	chr11:67764948-67764998	SK-N-MC	brain:	n/a
3	chr11:67766631-67766681	HUVEC	blood vessel:	n/a
4	chr11:67765204-67765254	GM19239	blood:	n/a
5	chr11:67761514-67761564	LNCaP	prostate:	n/a
6	chr11:67761514-67761564	HEK293	kidney:	embryo
7	chr11:67765204-67765254	SAEC	small airway:	n/a
8	chr11:67764105-67764155	Hepatocyte	liver:	n/a
9	chr11:67758754-67758804	HRCEpiC	kidney:	n/a
10	chr11:67761514-67761564	BJ	skin:	n/a
11	chr11:67761385-67761435	K562	blood:	n/a
12	chr11:67770929-67770979	NB4	blood:	n/a
13	chr11:67768362-67768412	H1-hESC	embryonic stem cell:	embryo
14	chr11:67770929-67770979	AG04450	lung:	fetal
15	chr11:67765021-67765071	Caco-2	colon:	n/a
16	chr11:67764654-67764704	NB4	blood:	n/a
17	chr11:67770929-67770979	NHBE	bronchial:	n/a
18	chr11:67766631-67766681	NH-A	brain:	n/a
19	chr11:67770929-67770979	LNCaP	prostate:	n/a
20	chr11:67765141-67765191	Hepatocyte	liver:	n/a
21	chr11:67770665-67770715	ProgFib	skin:	n/a
22	chr11:67764654-67764704	HL-60	blood:	n/a
23	chr11:67758754-67758804	RPTEC	kidney:	n/a
24	chr11:67764948-67764998	HepG2	liver:	n/a
25	chr11:67764948-67764998	AG09319	gingival:	n/a
26	chr11:67765141-67765191	NB4	blood:	n/a
27	chr11:67765204-67765254	U87	brain:	n/a
28	chr11:67764320-67764370	PFSK-1	brain:	n/a
29	chr11:67768362-67768412	GM12892	blood:	n/a
30	chr11:67761514-67761564	H1-hESC	embryonic stem cell:	embryo
31	chr11:67764105-67764155	HMEC	breast:	n/a
32	chr11:67765141-67765191	HCM	heart:	n/a
33	chr11:67765141-67765191	ovcar-3	ovarian:	n/a
34	chr11:67770929-67770979	HCPEpiC	choroid plexus:	n/a
35	chr11:67770665-67770715	PFSK-1	brain:	n/a
36	chr11:67764654-67764704	ECC-1	luminal epithelium:	n/a
37	chr11:67761385-67761435	HEEpiC	esophagus:	n/a
38	chr11:67764105-67764155	NH-A	brain:	n/a
39	chr11:67765204-67765254	GM12892	blood:	n/a
40	chr11:67764948-67764998	RPTEC	kidney:	n/a
41	chr11:67770404-67770454	NHBE	bronchial:	n/a
42	chr11:67765720-67765770	ProgFib	skin:	n/a
43	chr11:67758754-67758804	HRE	kidney:	n/a
44	chr11:67758754-67758804	Jurkat	blood:	n/a
45	chr11:67764105-67764155	K562	blood:	n/a
46	chr11:67770929-67770979	GM12892	blood:	n/a
47	chr11:67764654-67764704	SK-N-MC	brain:	n/a
48	chr11:67770665-67770715	HUVEC	blood vessel:	n/a
49	chr11:67761514-67761564	IMR90	lung:	fetal
50	chr11:67761514-67761564	NHDF-neo	bronchial:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67762444..67764941-chr11:67774417..67777074,2	K562	blood:
2	chr11:67770338..67773597-chr11:67780108..67784129,5	K562	blood:
3	chr11:67770966..67773282-chr11:67774269..67777181,2	K562	blood:
4	chr11:67764595..67767102-chr11:67888272..67890683,2	K562	blood:
5	chr11:67769721..67772110-chr11:67979489..67981755,3	MCF-7	breast:
6	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
7	chr11:67770463..67774040-chr11:67774088..67778740,6	K562	blood:
8	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
9	chr11:67763215..67765770-chr11:68037604..68039605,2	K562	blood:
10	chr11:67763621..67766711-chr11:67769461..67772575,7	MCF-7	breast:
11	chr11:67766902..67768836-chr11:67769720..67771878,3	MCF-7	breast:
12	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
13	chr11:67770129..67772999-chr11:67979313..67982279,4	K562	blood:
14	chr11:67770112..67773137-chr11:67777240..67779852,3	K562	blood:
15	chr11:67771190..67771966-chr19:47291348..47292062,2	HCT-116	colon:
16	chr1:11969474..11970311-chr11:67771036..67771591,2	HCT-116	colon:
17	chr11:67767693..67769603-chr11:67779964..67781851,2	K562	blood:
18	chr11:67770133..67772267-chr11:67796388..67798189,2	K562	blood:
19	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:
20	chr11:67763621..67766711-chr11:67769461..67772575,7	MCF-7	breast:
21	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:

No data

Variant related genes	Relation type
ALDH3B1	TF binding region
UNC93B1	TF binding region
ALDH3B1	CpG island
UNC93B1	CpG island
ENSG00000110721	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000255306	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000110717	chromatin interactions
ENSG00000110057	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000171067	chromatin interactions

Extended variants
information (count: 616 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570386593	chr11:67758600-67758601	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537862179	chr11:67758656-67758657	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556153977	chr11:67758678-67758679	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574786356	chr11:67758694-67758695	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2428817	chr11:67758705-67758706	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554046804	chr11:67758720-67758721	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572552306	chr11:67758753-67758754	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546017482	chr11:67758768-67758769	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564621767	chr11:67758770-67758771	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10896285	chr11:67758771-67758772	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182840333	chr11:67758778-67758779	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562206035	chr11:67758794-67758795	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4014588	chr11:67758809-67758810	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4014587	chr11:67758812-67758813	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371774429	chr11:67758854-67758855	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4014586	chr11:67758867-67758868	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4014585	chr11:67758892-67758893	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547582072	chr11:67758893-67758894	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7932	chr11:67758895-67758896	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs4014584	chr11:67758901-67758902	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4014583	chr11:67758918-67758919	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4014582	chr11:67758922-67758923	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs74638004	chr11:67758936-67758937	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4014581	chr11:67758946-67758947	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527367958	chr11:67758954-67758955	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551950493	chr11:67758955-67758956	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4014580	chr11:67758957-67758958	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4014579	chr11:67758987-67758988	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570545999	chr11:67758990-67758991	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2375183	chr11:67759032-67759033	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4014578	chr11:67759038-67759039	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs531159136	chr11:67759039-67759040	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2375182	chr11:67759043-67759044	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568350079	chr11:67759086-67759087	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535779712	chr11:67759087-67759088	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567070908	chr11:67759091-67759092	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565846179	chr11:67759098-67759099	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2375181	chr11:67759108-67759109	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2375180	chr11:67759110-67759111	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4014599	chr11:67759112-67759113	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11543209	chr11:67759127-67759128	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2375179	chr11:67759150-67759151	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4014598	chr11:67759167-67759168	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539644334	chr11:67759177-67759178	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557919554	chr11:67759178-67759179	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371900671	chr11:67759180-67759181	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576491436	chr11:67759182-67759183	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2375178	chr11:67759196-67759197	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543443741	chr11:67759217-67759218	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs2375177	chr11:67759247-67759248	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67751800-67762400	Weak transcription	A549	lung
2	chr11:67757200-67758800	Enhancers	Stomach Mucosa	stomach
3	chr11:67757200-67760200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:67758000-67764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:67758200-67758600	Weak transcription	Right Atrium	heart
6	chr11:67758200-67758800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:67758200-67758800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr11:67758200-67759000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr11:67758400-67758600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:67758400-67758600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:67758400-67758600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:67758400-67758600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:67758400-67758600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:67758400-67758600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:67758400-67758600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:67758400-67758600	Enhancers	Esophagus	oesophagus
17	chr11:67758400-67758600	Bivalent Enhancer	Fetal Brain Female	brain
18	chr11:67758400-67758600	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr11:67758400-67758600	Flanking Active TSS	Placenta	Placenta
20	chr11:67758400-67758600	Enhancers	Gastric	stomach
21	chr11:67758400-67758600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:67758400-67758600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr11:67758400-67758600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr11:67758400-67758600	Active TSS	HUVEC	blood vessel
25	chr11:67758400-67758600	Enhancers	NHEK	skin
26	chr11:67758400-67758800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:67758400-67758800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:67758400-67758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:67758400-67758800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr11:67758400-67758800	Enhancers	Lung	lung
31	chr11:67758400-67758800	Enhancers	Ovary	ovary
32	chr11:67758400-67758800	Enhancers	Spleen	Spleen
33	chr11:67758400-67758800	Enhancers	HMEC	breast
34	chr11:67758400-67759000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:67758400-67759000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67758400-67759000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:67758400-67759000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67758400-67759000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr11:67758400-67759000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr11:67758400-67759000	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr11:67758400-67759200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:67758400-67759200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:67758400-67759200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:67758400-67759200	Active TSS	Psoas Muscle	Psoas
45	chr11:67758400-67759400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:67758400-67759400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:67758400-67759400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:67758400-67759400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr11:67758400-67759600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:67758400-67759600	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links