Variant report

Variant	nsv524655
Chromosome Location	chr4:58081590-58703510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1778)
CpG islands
(count:672)
Chromatin interactive
region (count:36)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1778 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:58309017-58309217	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:58296901-58297377	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:58292996-58293304	HepG2	liver:	n/a	n/a
4	ATF1	chr4:58325846-58326046	K562	blood:	n/a	n/a
5	ATF3	chr4:58365972-58366265	K562	blood:	n/a	n/a
6	BACH1	chr4:58419394-58419487	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:58244993-58245247	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:58629218-58629748	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:58629264-58629631	K562	blood:	n/a	n/a
10	BACH1	chr4:58505818-58506022	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr4:58158697-58158882	GM12878	blood:	n/a	n/a
12	BCLAF1	chr4:58292973-58293316	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:58296939-58297272	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:58284533-58284568	HepG2	liver:	n/a	n/a
15	BHLHE40	chr4:58085716-58085808	K562	blood:	n/a	n/a
16	BHLHE40	chr4:58292984-58293289	GM12878	blood:	n/a	n/a
17	BRCA1	chr4:58240632-58240720	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr4:58309058-58309163	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:58494195-58494550	HepG2	liver:	n/a	chr4:58494357-58494366 chr4:58494357-58494366 chr4:58494355-58494366 chr4:58494355-58494368 chr4:58494357-58494366
20	CEBPB	chr4:58356590-58356972	A549	lung:	n/a	chr4:58356773-58356786 chr4:58356773-58356784 chr4:58356770-58356787 chr4:58356773-58356786 chr4:58356773-58356786
21	CEBPB	chr4:58499676-58499879	A549	lung:	n/a	n/a
22	CEBPB	chr4:58365945-58366299	HepG2	liver:	n/a	chr4:58366117-58366128
23	CEBPB	chr4:58365985-58366262	A549	lung:	n/a	chr4:58366117-58366128
24	CEBPB	chr4:58236396-58236657	HepG2	liver:	n/a	chr4:58236526-58236537
25	CEBPB	chr4:58406564-58406895	HepG2	liver:	n/a	chr4:58406721-58406732 chr4:58406722-58406731 chr4:58406720-58406731
26	CEBPB	chr4:58261887-58262108	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr4:58370385-58370667	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr4:58356611-58356938	IMR90	lung:	n/a	chr4:58356773-58356786 chr4:58356773-58356784 chr4:58356770-58356787 chr4:58356773-58356786 chr4:58356773-58356786
29	CEBPB	chr4:58267754-58268035	IMR90	lung:	n/a	n/a
30	CEBPB	chr4:58296469-58297184	HepG2	liver:	n/a	n/a
31	CEBPB	chr4:58240636-58240846	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr4:58521594-58521906	HepG2	liver:	n/a	chr4:58521760-58521771
33	CEBPB	chr4:58365940-58366218	ECC-1	luminal epithelium:	n/a	chr4:58366117-58366128
34	CEBPB	chr4:58406581-58406862	IMR90	lung:	n/a	chr4:58406721-58406732 chr4:58406722-58406731 chr4:58406720-58406731
35	CEBPB	chr4:58365884-58366337	MCF-7	breast:	n/a	chr4:58366117-58366128
36	CEBPB	chr4:58543090-58543411	HepG2	liver:	n/a	chr4:58543237-58543248
37	CEBPB	chr4:58543093-58543365	IMR90	lung:	n/a	chr4:58543237-58543248
38	CEBPB	chr4:58302649-58302903	HepG2	liver:	n/a	chr4:58302764-58302775 chr4:58302762-58302773
39	CEBPB	chr4:58271565-58271912	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr4:58186427-58186681	A549	lung:	n/a	n/a
41	CEBPB	chr4:58365998-58366249	K562	blood:	n/a	chr4:58366117-58366128
42	CEBPB	chr4:58593398-58593627	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr4:58365966-58366287	Hela-S3	cervix:	n/a	chr4:58366117-58366128
44	CEBPB	chr4:58461902-58462183	IMR90	lung:	n/a	chr4:58462009-58462026 chr4:58462012-58462023
45	CEBPB	chr4:58471989-58472178	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr4:58571982-58572191	A549	lung:	n/a	n/a
47	CEBPB	chr4:58236496-58236533	K562	blood:	n/a	n/a
48	CEBPB	chr4:58571971-58572253	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:58543122-58543389	A549	lung:	n/a	chr4:58543237-58543248
50	CEBPB	chr4:58365975-58366287	IMR90	lung:	n/a	chr4:58366117-58366128

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:58505703-58505753	NT2-D1	testis:	n/a
2	chr4:58505703-58505753	NT2-D1	testis:	n/a
3	chr4:58235517-58235567	SK-N-SH_RA	brain:	n/a
4	chr4:58131577-58131627	Hepatocyte	liver:	n/a
5	chr4:58235517-58235567	HRCEpiC	kidney:	n/a
6	chr4:58235517-58235567	AG04450	lung:	fetal
7	chr4:58154270-58154320	PANC-1	pancreas:	n/a
8	chr4:58291839-58291889	GM12878	blood:	n/a
9	chr4:58505703-58505753	PFSK-1	brain:	n/a
10	chr4:58505703-58505753	AG04449	skin:	fetal
11	chr4:58131577-58131627	T-47D	breast:	n/a
12	chr4:58211039-58211089	HCT-116	colon:	n/a
13	chr4:58309519-58309569	HCT-116	colon:	n/a
14	chr4:58086247-58086297	HCF	heart:	n/a
15	chr4:58309519-58309569	MCF10A-Er-Src	breast:	n/a
16	chr4:58235517-58235567	HMEC	breast:	n/a
17	chr4:58291304-58291354	PANC-1	pancreas:	n/a
18	chr4:58291304-58291354	AG04449	skin:	fetal
19	chr4:58291304-58291354	GM12892	blood:	n/a
20	chr4:58291304-58291354	HL-60	blood:	n/a
21	chr4:58411476-58411526	GM19239	blood:	n/a
22	chr4:58154270-58154320	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:58291839-58291889	A549	lung:	n/a
24	chr4:58291839-58291889	AoSMC	blood vessel:	n/a
25	chr4:58211039-58211089	BJ	skin:	n/a
26	chr4:58154270-58154320	HEEpiC	esophagus:	n/a
27	chr4:58309519-58309569	Hepatocyte	liver:	n/a
28	chr4:58505703-58505753	GM19239	blood:	n/a
29	chr4:58131577-58131627	SK-N-SH_RA	brain:	n/a
30	chr4:58131577-58131627	SAEC	small airway:	n/a
31	chr4:58505703-58505753	BE2_C	brain:	n/a
32	chr4:58290751-58290801	Hepatocyte	liver:	n/a
33	chr4:58086247-58086297	HL-60	blood:	n/a
34	chr4:58086247-58086297	PrEC	prostate:	n/a
35	chr4:58309519-58309569	IMR90	lung:	fetal
36	chr4:58131577-58131627	AG09309	skin:	n/a
37	chr4:58086247-58086297	Hela-S3	cervix:	n/a
38	chr4:58290751-58290801	HEEpiC	esophagus:	n/a
39	chr4:58411476-58411526	HRPEpiC	eye:	n/a
40	chr4:58235517-58235567	NHBE	bronchial:	n/a
41	chr4:58291304-58291354	K562	blood:	n/a
42	chr4:58505703-58505753	HCT-116	colon:	n/a
43	chr4:58235517-58235567	HPAEpiC	pulmonary alveolar:	n/a
44	chr4:58211039-58211089	HRE	kidney:	n/a
45	chr4:58290751-58290801	SK-N-SH	brain:	n/a
46	chr4:58154270-58154320	HRCEpiC	kidney:	n/a
47	chr4:58291839-58291889	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:58411476-58411526	HEEpiC	esophagus:	n/a
49	chr4:58291839-58291889	PANC-1	pancreas:	n/a
50	chr4:58505703-58505753	NHBE	bronchial:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:58120841..58122495-chr4:58130489..58132167,2	K562	blood:
2	chr4:58241756..58244480-chr4:58247008..58248951,2	K562	blood:
3	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:
4	chr4:58178404..58179945-chr4:58180872..58183793,2	K562	blood:
5	chr4:58241756..58244480-chr4:58247008..58248951,2	K562	blood:
6	chr4:58120841..58122495-chr4:58130489..58132167,2	K562	blood:
7	chr4:58030046..58030812-chr4:58169315..58169864,2	MCF-7	breast:
8	chr4:58179767..58181857-chr4:58184960..58187604,2	MCF-7	breast:
9	chr4:58173980..58176459-chr4:58182888..58184511,2	MCF-7	breast:
10	chr11:62606852..62609128-chr4:58456129..58458804,2	K562	blood:
11	chr20:52814552..52816313-chr4:58687676..58690673,2	MCF-7	breast:
12	chr4:58308768..58309568-chr4:61329597..61330458,3	MCF-7	breast:
13	chr4:58308665..58309251-chr4:61066822..61067454,2	MCF-7	breast:
14	chr20:52815490..52816539-chr4:58688674..58689176,3	MCF-7	breast:
15	chr4:58178404..58180528-chr4:58182250..58183793,2	K562	blood:
16	chr4:58261091..58262604-chr4:58264259..58266199,2	K562	blood:
17	chr4:58118602..58119167-chrX:19905349..19906077,2	MCF-7	breast:
18	chr4:58216310..58219128-chr4:58221649..58224595,2	K562	blood:
19	chr4:58306257..58308301-chr4:58311237..58313660,2	K562	blood:
20	chr20:52814541..52816222-chr4:58687654..58689176,2	MCF-7	breast:
21	chr4:58522586..58524933-chr4:58526565..58528597,3	K562	blood:
22	chr4:58261091..58262604-chr4:58264259..58266199,2	K562	blood:
23	chr4:58277971..58280456-chr4:58282235..58284162,2	MCF-7	breast:
24	chr4:58522586..58524933-chr4:58526565..58528597,3	K562	blood:
25	chr4:58277971..58280456-chr4:58282235..58284162,2	MCF-7	breast:
26	chr4:58140099..58141964-chr4:58142116..58143959,2	K562	blood:
27	chr4:58140099..58141964-chr4:58142116..58143959,2	K562	blood:
28	chr4:58029785..58030392-chr4:58308601..58309522,5	MCF-7	breast:
29	chr4:58029815..58031079-chr4:58292757..58293624,5	MCF-7	breast:
30	chr4:58178404..58180528-chr4:58182250..58183793,2	K562	blood:
31	chr4:58306257..58308301-chr4:58311237..58313660,2	K562	blood:
32	chr4:58178404..58179945-chr4:58180872..58183793,2	K562	blood:
33	chr4:58216310..58219128-chr4:58221649..58224595,2	K562	blood:
34	chr4:58173980..58176459-chr4:58182888..58184511,2	MCF-7	breast:
35	chr4:58029871..58030704-chr4:58365680..58366601,2	MCF-7	breast:
36	chr4:58179767..58181857-chr4:58184960..58187604,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-2	chr4:58291143-58291455	XLOC_003959
2	lnc-IGFBP7-3	chr4:58471860-58472037	XLOC_003960
3	lnc-POLR2B-2	chr4:58300908-58301050	XLOC_003548
4	lnc-POLR2B-4	chr4:58588292-58590821	ENSG00000249831
5	lnc-POLR2B-4	chr4:58588287-58590821	XLOC_003549
6	lnc-IGFBP7-3	chr4:58491356-58491478	XLOC_003960
7	lnc-POLR2B-2	chr4:58331807-58332152	XLOC_003548
8	lnc-POLR2B-2	chr4:58330391-58330538	XLOC_003548
9	lnc-POLR2B-2	chr4:58293471-58293593	XLOC_003548
10	lnc-POLR2B-2	chr4:58292036-58292184	NONHSAT096558
11	lnc-IGFBP7-9	chr4:58219165-58219495	NONHSAT096556
12	lnc-POLR2B-2	chr4:58330391-58330538	NONHSAT096558
13	lnc-IGFBP7-3	chr4:58471832-58472038	ENSG00000251049
14	lnc-IGFBP7-3	chr4:58462106-58462635	XLOC_003960
15	lnc-POLR2B-2	chr4:58293471-58293593	NONHSAT096558
16	lnc-POLR2B-2	chr4:58293145-58293275	XLOC_003548
17	lnc-IGFBP7-2	chr4:58291782-58291939	XLOC_003959
18	lnc-IGFBP7-3	chr4:58462106-58462633	ENSG00000251049
19	lnc-POLR2B-2	chr4:58300908-58301050	NONHSAT096558
20	lnc-POLR2B-2	chr4:58292038-58292184	XLOC_003548
21	lnc-POLR2B-3	chr4:58360720-58361399	ENSG00000251459
22	lnc-POLR2B-4	chr4:58586201-58586342	XLOC_003549
23	lnc-IGFBP7-3	chr4:58471832-58472038	XLOC_003960
24	lnc-POLR2B-2	chr4:58293145-58293275	NONHSAT096558
25	lnc-POLR2B-4	chr4:58586201-58586342	ENSG00000249831
26	lnc-POLR2B-2	chr4:58331807-58332152	NONHSAT096558
27	lnc-POLR2B-3	chr4:58357556-58357658	ENSG00000251459
28	lnc-IGFBP7-3	chr4:58524912-58524966	XLOC_003960

No data

Variant related genes	Relation type
ENSG00000249831	TF binding region
RPS26P24	TF binding region
ENSG00000250333	TF binding region
ENSG00000251459	TF binding region
ENSG00000248505	TF binding region
ENSG00000238925	TF binding region
ENSG00000251049	TF binding region
ENSG00000249831	CpG island
RPS26P24	CpG island
ENSG00000250333	CpG island
ENSG00000251459	CpG island
ENSG00000248505	CpG island
ENSG00000238925	CpG island
ENSG00000251049	CpG island
ENSG00000147010	chromatin interactions
ENSG00000133316	chromatin interactions
SIRT1	miRNA target sites
HNF4A	miRNA target sites

Extended variants
information (count: 14550 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:14550 , 50 per page) page: 1 2 3 4 5 6 7 ... 291

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1860623	chr4:58081590-58081591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1860622	chr4:58081623-58081624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552033525	chr4:58081627-58081628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374940307	chr4:58081628-58081629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142397188	chr4:58081642-58081643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548389361	chr4:58081666-58081667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200652936	chr4:58081668-58081669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373918709	chr4:58081677-58081678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546368915	chr4:58081679-58081680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567682900	chr4:58081685-58081686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201163777	chr4:58081688-58081689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35153641	chr4:58081690-58081691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3038802	chr4:58081697-58081698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566323859	chr4:58081700-58081701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17087701	chr4:58081723-58081724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528557253	chr4:58081725-58081726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552138019	chr4:58081726-58081727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570249700	chr4:58081751-58081752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546691897	chr4:58081777-58081778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34150234	chr4:58081793-58081794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537713647	chr4:58081798-58081799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557331166	chr4:58081855-58081856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567515360	chr4:58081863-58081864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551294116	chr4:58081901-58081902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79182141	chr4:58081918-58081919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553166870	chr4:58081935-58081936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143302810	chr4:58082094-58082095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544817004	chr4:58082096-58082097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151282320	chr4:58082146-58082147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575181398	chr4:58082191-58082192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544136439	chr4:58082201-58082202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116654981	chr4:58082217-58082218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529654542	chr4:58082223-58082224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140439883	chr4:58082241-58082242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377291495	chr4:58082255-58082256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560274268	chr4:58082273-58082274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532213604	chr4:58082286-58082287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113039298	chr4:58082310-58082311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150414313	chr4:58082314-58082315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531248160	chr4:58082324-58082325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138081336	chr4:58082325-58082326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1544563	chr4:58082330-58082331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112352442	chr4:58082361-58082362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537980292	chr4:58082478-58082479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536233844	chr4:58082480-58082481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552912707	chr4:58082517-58082518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4865199	chr4:58082554-58082555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs80005336	chr4:58082573-58082574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558340332	chr4:58082593-58082594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535394477	chr4:58082601-58082602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58072800-58087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:58080000-58082200	Enhancers	HSMMtube	muscle
3	chr4:58080400-58085600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:58080600-58081800	Enhancers	HSMM	muscle
5	chr4:58081200-58081800	Enhancers	Fetal Muscle Leg	muscle
6	chr4:58085400-58086400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr4:58085600-58086000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:58085600-58086200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:58085600-58086400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:58085800-58086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:58085800-58086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:58085800-58087200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:58086000-58086200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:58086000-58086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:58086000-58087200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:58086400-58086800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:58086400-58087000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:58086800-58087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:58087000-58087200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:58087000-58087200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:58087200-58096800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:58094400-58094600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:58096800-58097000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:58096800-58097400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:58096800-58098400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:58096800-58100200	Enhancers	HMEC	breast
27	chr4:58096800-58100400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:58097200-58099600	Enhancers	Stomach Mucosa	stomach
29	chr4:58097400-58100400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:58097600-58098200	Enhancers	NHEK	skin
31	chr4:58097800-58098200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:58097800-58098400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:58097800-58099600	Enhancers	Fetal Kidney	kidney
34	chr4:58098000-58098400	Enhancers	Gastric	stomach
35	chr4:58098200-58099200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:58098200-58099400	Weak transcription	NHEK	skin
37	chr4:58098400-58098800	Weak transcription	Gastric	stomach
38	chr4:58098400-58099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:58098400-58101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:58098600-58100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:58098800-58099400	Enhancers	Gastric	stomach
42	chr4:58099000-58099200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:58099000-58099200	Enhancers	Aorta	Aorta
44	chr4:58099000-58099600	Enhancers	Fetal Lung	lung
45	chr4:58099200-58099400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:58099200-58100000	Enhancers	Colon Smooth Muscle	Colon
47	chr4:58099200-58109400	Weak transcription	Aorta	Aorta
48	chr4:58099400-58099600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:58099400-58099600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:58099400-58099600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links