Variant report

Variant	nsv598311
Chromosome Location	chr5:60136626-60308836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2139)
CpG islands
(count:2015)
Chromatin interactive
region (count:77)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60240718-60241241	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:60227642-60227690	K562	blood:	n/a	n/a
3	ARID3A	chr5:60140010-60140140	K562	blood:	n/a	n/a
4	ARID3A	chr5:60274848-60275124	K562	blood:	n/a	n/a
5	ARID3A	chr5:60181991-60182269	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:60179163-60179195	K562	blood:	n/a	n/a
7	ARID3A	chr5:60224933-60225228	K562	blood:	n/a	n/a
8	ATF1	chr5:60148344-60148514	K562	blood:	n/a	n/a
9	ATF1	chr5:60137790-60137795	K562	blood:	n/a	n/a
10	ATF1	chr5:60257644-60257861	K562	blood:	n/a	n/a
11	ATF1	chr5:60140322-60140612	K562	blood:	n/a	n/a
12	ATF1	chr5:60148865-60149065	K562	blood:	n/a	n/a
13	ATF1	chr5:60274513-60275143	K562	blood:	n/a	n/a
14	ATF2	chr5:60240675-60241129	GM12878	blood:	n/a	n/a
15	ATF3	chr5:60139979-60140240	K562	blood:	n/a	chr5:60140013-60140022
16	ATF3	chr5:60257617-60257921	K562	blood:	n/a	n/a
17	BACH1	chr5:60274899-60275146	K562	blood:	n/a	n/a
18	BACH1	chr5:60140730-60140830	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr5:60139641-60140505	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:60241238-60241531	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCLAF1	chr5:60241147-60241621	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:60241820-60242140	K562	blood:	n/a	n/a
23	BHLHE40	chr5:60240872-60241581	K562	blood:	n/a	chr5:60241008-60241024
24	BHLHE40	chr5:60139908-60140548	K562	blood:	n/a	n/a
25	BHLHE40	chr5:60273867-60274075	K562	blood:	n/a	n/a
26	BHLHE40	chr5:60274319-60275283	K562	blood:	n/a	n/a
27	BHLHE40	chr5:60148834-60149083	K562	blood:	n/a	n/a
28	BHLHE40	chr5:60139760-60140304	HepG2	liver:	n/a	chr5:60139813-60139829
29	BHLHE40	chr5:60240684-60241301	GM12878	blood:	n/a	chr5:60241008-60241024
30	BHLHE40	chr5:60168934-60168938	GM12878	blood:	n/a	n/a
31	BHLHE40	chr5:60139857-60140324	GM12878	blood:	n/a	n/a
32	BRCA1	chr5:60242705-60242764	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr5:60306630-60306773	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr5:60139999-60140699	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr5:60289241-60289660	HCT-116	colon:	n/a	n/a
36	CBX3	chr5:60274796-60275180	K562	blood:	n/a	n/a
37	CBX3	chr5:60289206-60289789	K562	blood:	n/a	n/a
38	CBX3	chr5:60251024-60251519	HCT-116	colon:	n/a	n/a
39	CBX3	chr5:60289190-60289610	K562	blood:	n/a	n/a
40	CBX3	chr5:60231541-60231761	K562	blood:	n/a	n/a
41	CBX3	chr5:60240930-60241613	K562	blood:	n/a	n/a
42	CBX3	chr5:60166733-60166960	K562	blood:	n/a	n/a
43	CBX3	chr5:60277815-60278245	K562	blood:	n/a	n/a
44	CBX3	chr5:60274711-60275276	K562	blood:	n/a	n/a
45	CCNT2	chr5:60273908-60274052	K562	blood:	n/a	n/a
46	CCNT2	chr5:60241747-60241947	K562	blood:	n/a	n/a
47	CCNT2	chr5:60148817-60149120	K562	blood:	n/a	n/a
48	CCNT2	chr5:60139486-60140436	K562	blood:	n/a	n/a
49	CCNT2	chr5:60240705-60241024	K562	blood:	n/a	n/a
50	CCNT2	chr5:60274822-60275307	K562	blood:	n/a	n/a

(count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60240891-60240941	HCPEpiC	choroid plexus:	n/a
2	chr5:60139293-60139343	HCT-116	colon:	n/a
3	chr5:60240891-60240941	HCPEpiC	choroid plexus:	n/a
4	chr5:60139293-60139343	HCT-116	colon:	n/a
5	chr5:60241428-60241478	HEK293	kidney:	embryo
6	chr5:60240891-60240941	AG10803	skin:	n/a
7	chr5:60139941-60139991	HCPEpiC	choroid plexus:	n/a
8	chr5:60241019-60241069	MCF-7	breast:	n/a
9	chr5:60139941-60139991	HCT-116	colon:	n/a
10	chr5:60148273-60148323	HCF	heart:	n/a
11	chr5:60241324-60241374	PANC-1	pancreas:	n/a
12	chr5:60138761-60138811	NT2-D1	testis:	n/a
13	chr5:60138838-60138888	HEEpiC	esophagus:	n/a
14	chr5:60239580-60239630	NHDF-neo	bronchial:	n/a
15	chr5:60139516-60139566	HRPEpiC	eye:	n/a
16	chr5:60240952-60241002	PrEC	prostate:	n/a
17	chr5:60240870-60240920	H1-hESC	embryonic stem cell:	embryo
18	chr5:60170058-60170108	ECC-1	luminal epithelium:	n/a
19	chr5:60241636-60241686	NHBE	bronchial:	n/a
20	chr5:60240817-60240867	ProgFib	skin:	n/a
21	chr5:60140824-60140874	HCT-116	colon:	n/a
22	chr5:60141082-60141132	H1-hESC	embryonic stem cell:	embryo
23	chr5:60141082-60141132	AG04449	skin:	fetal
24	chr5:60139708-60139758	ovcar-3	ovarian:	n/a
25	chr5:60170058-60170108	CMK	blood:	n/a
26	chr5:60139938-60139988	BJ	skin:	n/a
27	chr5:60240817-60240867	HIPEpiC	eye:	n/a
28	chr5:60138883-60138933	AG04450	lung:	fetal
29	chr5:60241324-60241374	SAEC	small airway:	n/a
30	chr5:60139293-60139343	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:60241019-60241069	MCF10A-Er-Src	breast:	n/a
32	chr5:60240670-60240720	GM12878	blood:	n/a
33	chr5:60240952-60241002	HEK293	kidney:	embryo
34	chr5:60140824-60140874	NHBE	bronchial:	n/a
35	chr5:60240870-60240920	GM12878	blood:	n/a
36	chr5:60139938-60139988	HRCEpiC	kidney:	n/a
37	chr5:60240952-60241002	ECC-1	luminal epithelium:	n/a
38	chr5:60140824-60140874	HEK293	kidney:	embryo
39	chr5:60139941-60139991	GM12892	blood:	n/a
40	chr5:60141082-60141132	HL-60	blood:	n/a
41	chr5:60240952-60241002	T-47D	breast:	n/a
42	chr5:60240938-60240988	HNPCEpiC	eye:	n/a
43	chr5:60137757-60137807	HIPEpiC	eye:	n/a
44	chr5:60148273-60148323	HEK293	kidney:	embryo
45	chr5:60240926-60240976	Hepatocyte	liver:	n/a
46	chr5:60139131-60139181	ECC-1	luminal epithelium:	n/a
47	chr5:60241636-60241686	T-47D	breast:	n/a
48	chr5:60240891-60240941	BE2_C	brain:	n/a
49	chr5:60139420-60139470	HRCEpiC	kidney:	n/a
50	chr5:60138883-60138933	Jurkat	blood:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:60142106..60144527-chr5:60240837..60243388,2	K562	blood:
2	chr5:60306690..60309499-chr5:60316229..60318083,2	MCF-7	breast:
3	chr5:60132825..60135249-chr5:60136200..60138330,2	K562	blood:
4	chr5:60147000..60148847-chr5:60149735..60152461,2	MCF-7	breast:
5	chr5:60249583..60251720-chr5:60253693..60255301,2	K562	blood:
6	chr5:60248420..60251083-chr5:60253409..60255301,2	K562	blood:
7	chr5:60182235..60184103-chr5:60240425..60242925,2	MCF-7	breast:
8	chr5:59973247..59973801-chr5:60224508..60225118,3	K562	blood:
9	chr5:60238903..60241711-chr5:60255745..60258195,2	K562	blood:
10	chr5:60238903..60240533-chr5:60255101..60257245,2	K562	blood:
11	chr5:60244730..60246591-chr5:60250985..60252968,2	MCF-7	breast:
12	chr5:60248322..60251287-chr5:60256158..60258205,2	K562	blood:
13	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
14	chr5:60197378..60199717-chr5:60210725..60212735,2	K562	blood:
15	chr5:60241626..60243235-chr5:60252135..60253778,2	K562	blood:
16	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
17	chr5:60234928..60236588-chr5:60398367..60400919,2	K562	blood:
18	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
19	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
20	chr5:60248322..60251287-chr5:60256158..60258205,2	K562	blood:
21	chr5:59973332..59975337-chr5:60224481..60226392,2	MCF-7	breast:
22	chr5:60232184..60235811-chr5:60236501..60239833,3	K562	blood:
23	chr5:60261942..60265146-chr5:60457137..60459002,3	MCF-7	breast:
24	chr5:60308495..60310817-chr5:60337811..60340272,2	K562	blood:
25	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
26	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:
27	chr5:60238903..60240533-chr5:60255101..60257245,2	K562	blood:
28	chr2:25194755..25195595-chr5:60240745..60241487,2	Hela-S3	cervix:
29	chr5:60305681..60307942-chr5:60309957..60312620,2	MCF-7	breast:
30	chr5:60239573..60241896-chr5:60245590..60248548,2	K562	blood:
31	chr5:60307333..60308996-chr5:60311645..60313281,2	K562	blood:
32	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:
33	chr5:59995891..59998683-chr5:60261062..60263658,2	K562	blood:
34	chr5:60138882..60141126-chr5:60148557..60150953,2	MCF-7	breast:
35	chr5:60254798..60255532-chr5:60954065..60954863,2	K562	blood:
36	chr5:10761355..10761920-chr5:60240758..60241387,2	NB4	blood:
37	chr5:60143868..60145505-chr5:60146013..60148610,2	K562	blood:
38	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
39	chr5:60244730..60246591-chr5:60250985..60252968,2	MCF-7	breast:
40	chr5:60141307..60144527-chr5:60240837..60243388,3	K562	blood:
41	chr5:60234534..60237256-chr5:60239004..60241956,3	K562	blood:
42	chr5:60143868..60145505-chr5:60146013..60148610,2	K562	blood:
43	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
44	chr19:10314099..10314599-chr5:60155075..60155644,2	Hela-S3	cervix:
45	chr5:59995721..59997582-chr5:60231998..60233519,2	K562	blood:
46	chr5:60180292..60182864-chr5:60197652..60199480,2	MCF-7	breast:
47	chr5:60199648..60201758-chr5:60214066..60215878,2	K562	blood:
48	chr5:60244987..60247970-chr5:60252320..60254157,2	K562	blood:
49	chr5:60198217..60200090-chr5:60210725..60213432,2	K562	blood:
50	chr5:60150200..60152775-chr5:60153410..60154990,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM6-4	chr5:60241056-60241209	NONHSAT101655
2	lnc-NDUFAF2-1	chr5:60214122-60214254	ENSG00000233847.1
3	lnc-NDUFAF2-1	chr5:60215204-60215400	ENSG00000233847.1
4	lnc-NDUFAF2-1	chr5:60213317-60213394	ENSG00000233847.1
5	lnc-ERCC8-1	chr5:60162284-60162762	ENSG00000272308.1

No data

Variant related genes	Relation type
NDUFAF2	TF binding region
ELOVL7	TF binding region
ENSG00000272308	TF binding region
ERCC8	TF binding region
GNL3LP1	TF binding region
ENSG00000233847	TF binding region
NDUFAF2	CpG island
ELOVL7	CpG island
ENSG00000272308	CpG island
ERCC8	CpG island
GNL3LP1	CpG island
ENSG00000233847	CpG island
ENSG00000143319	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000112977	chromatin interactions
ENSG00000049167	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000251279	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000164181	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000233847	chromatin interactions
ENSG00000164182	chromatin interactions
ENSG00000224165	chromatin interactions

Extended variants
information (count: 6070 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:6070 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17332419	chr5:60136626-60136627	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190559065	chr5:60136679-60136680	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552326173	chr5:60136737-60136738	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367782697	chr5:60136799-60136800	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71630083	chr5:60136824-60136825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199897622	chr5:60136833-60136834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534932388	chr5:60136851-60136852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397997937	chr5:60136871-60136872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542961114	chr5:60136896-60136897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182724486	chr5:60136902-60136903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188301274	chr5:60137043-60137044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546876072	chr5:60137052-60137053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191352208	chr5:60137093-60137094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183270408	chr5:60137102-60137103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537054629	chr5:60137135-60137136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116265107	chr5:60137136-60137137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577698600	chr5:60137153-60137154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114836799	chr5:60137154-60137155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7731760	chr5:60137168-60137169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368350110	chr5:60137176-60137177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7717909	chr5:60137270-60137271	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs543311820	chr5:60137380-60137381	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563148581	chr5:60137381-60137382	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139357177	chr5:60137388-60137389	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187699172	chr5:60137406-60137407	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564198541	chr5:60137461-60137462	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533043432	chr5:60137481-60137482	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546319687	chr5:60137484-60137485	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191373292	chr5:60137485-60137486	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74925644	chr5:60137501-60137502	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116754727	chr5:60137605-60137606	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115179936	chr5:60137620-60137621	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537680965	chr5:60137694-60137695	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557529078	chr5:60137740-60137741	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs578068587	chr5:60137747-60137748	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534312125	chr5:60137776-60137777	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs1867597	chr5:60137830-60137831	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs13189346	chr5:60137859-60137860	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184987089	chr5:60137944-60137945	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1867598	chr5:60137959-60137960	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149394432	chr5:60137973-60137974	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573051215	chr5:60138060-60138061	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565469771	chr5:60138076-60138077	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555698203	chr5:60138099-60138100	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546677728	chr5:60138131-60138132	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77039335	chr5:60138182-60138183	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528897052	chr5:60138215-60138216	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73759430	chr5:60138287-60138288	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568838000	chr5:60138307-60138308	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35647484	chr5:60138323-60138324	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2421 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60102200-60137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:60129400-60137200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:60132000-60138600	Weak transcription	HMEC	breast
4	chr5:60132400-60138600	Weak transcription	A549	lung
5	chr5:60134200-60137200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:60134200-60137400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:60134400-60138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:60134400-60138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:60134400-60138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:60134400-60138400	Weak transcription	Gastric	stomach
11	chr5:60134400-60138400	Weak transcription	Pancreas	Pancrea
12	chr5:60134400-60138400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:60134400-60139000	Weak transcription	Lung	lung
14	chr5:60134400-60139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:60134600-60137000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:60136200-60136800	Active TSS	Brain Angular Gyrus	brain
17	chr5:60136200-60137600	Enhancers	Brain Substantia Nigra	brain
18	chr5:60136200-60138800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:60136400-60137400	Weak transcription	Brain Anterior Caudate	brain
20	chr5:60136400-60137800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:60136600-60137000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:60136600-60137000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:60136800-60137000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:60137000-60137200	Enhancers	Brain Angular Gyrus	brain
25	chr5:60137000-60137400	Enhancers	Brain Hippocampus Middle	brain
26	chr5:60137000-60137600	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:60137000-60137600	Enhancers	Fetal Intestine Large	intestine
28	chr5:60137200-60137400	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr5:60137200-60138200	Enhancers	Fetal Intestine Small	intestine
30	chr5:60137400-60137800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:60137400-60138400	Active TSS	Brain Angular Gyrus	brain
32	chr5:60137400-60138400	Active TSS	Brain Anterior Caudate	brain
33	chr5:60137400-60138400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:60137400-60140600	Active TSS	Brain Hippocampus Middle	brain
35	chr5:60137600-60137800	Active TSS	Fetal Intestine Large	intestine
36	chr5:60137600-60138200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr5:60137600-60138200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr5:60137600-60138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:60137800-60138000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr5:60137800-60138000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr5:60137800-60138000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr5:60137800-60138000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr5:60137800-60138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:60137800-60138200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr5:60137800-60138800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr5:60138000-60138200	Bivalent Enhancer	Small Intestine	intestine
47	chr5:60138000-60138400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr5:60138000-60138400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr5:60138000-60138400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:60138000-60138400	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links