Variant report

Variant	nsv881712
Chromosome Location	chr5:60116613-60266875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2019)
CpG islands
(count:2078)
Chromatin interactive
region (count:79)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

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	chr5:60224933-60225228	K562	blood:	n/a	n/a
4	ARID3A	chr5:60181991-60182269	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:60116461-60117150	K562	blood:	n/a	n/a
6	ARID3A	chr5:60179163-60179195	K562	blood:	n/a	n/a
7	ARID3A	chr5:60140010-60140140	K562	blood:	n/a	n/a
8	ATF1	chr5:60148865-60149065	K562	blood:	n/a	n/a
9	ATF1	chr5:60148344-60148514	K562	blood:	n/a	n/a
10	ATF1	chr5:60257644-60257861	K562	blood:	n/a	n/a
11	ATF1	chr5:60116465-60117242	K562	blood:	n/a	n/a
12	ATF1	chr5:60137790-60137795	K562	blood:	n/a	n/a
13	ATF1	chr5:60140322-60140612	K562	blood:	n/a	n/a
14	ATF2	chr5:60122280-60122899	GM12878	blood:	n/a	n/a
15	ATF2	chr5:60240675-60241129	GM12878	blood:	n/a	n/a
16	ATF2	chr5:60122399-60122938	GM12878	blood:	n/a	n/a
17	ATF3	chr5:60257617-60257921	K562	blood:	n/a	n/a
18	ATF3	chr5:60139979-60140240	K562	blood:	n/a	chr5:60140013-60140022
19	BACH1	chr5:60140730-60140830	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:60241238-60241531	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr5:60139641-60140505	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr5:60117975-60118244	GM12878	blood:	n/a	n/a
23	BATF	chr5:60122489-60122819	GM12878	blood:	n/a	chr5:60122677-60122688
24	BATF	chr5:60122447-60122875	GM12878	blood:	n/a	chr5:60122677-60122688
25	BCL11A	chr5:60122515-60122796	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:60122417-60122906	GM12878	blood:	n/a	n/a
27	BCL3	chr5:60125467-60125724	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:60122249-60122828	GM12878	blood:	n/a	n/a
29	BCLAF1	chr5:60241147-60241621	GM12878	blood:	n/a	n/a
30	BHLHE40	chr5:60118549-60118717	K562	blood:	n/a	n/a
31	BHLHE40	chr5:60139857-60140324	GM12878	blood:	n/a	n/a
32	BHLHE40	chr5:60168934-60168938	GM12878	blood:	n/a	n/a
33	BHLHE40	chr5:60139908-60140548	K562	blood:	n/a	n/a
34	BHLHE40	chr5:60240872-60241581	K562	blood:	n/a	chr5:60241008-60241024
35	BHLHE40	chr5:60240684-60241301	GM12878	blood:	n/a	chr5:60241008-60241024
36	BHLHE40	chr5:60139760-60140304	HepG2	liver:	n/a	chr5:60139813-60139829
37	BHLHE40	chr5:60116487-60117300	K562	blood:	n/a	n/a
38	BHLHE40	chr5:60148834-60149083	K562	blood:	n/a	n/a
39	BHLHE40	chr5:60241820-60242140	K562	blood:	n/a	n/a
40	BRCA1	chr5:60242705-60242764	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr5:60139999-60140699	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr5:60116433-60116897	K562	blood:	n/a	n/a
43	CBX3	chr5:60231541-60231761	K562	blood:	n/a	n/a
44	CBX3	chr5:60166733-60166960	K562	blood:	n/a	n/a
45	CBX3	chr5:60240930-60241613	K562	blood:	n/a	n/a
46	CBX3	chr5:60251024-60251519	HCT-116	colon:	n/a	n/a
47	CBX3	chr5:60116199-60117217	K562	blood:	n/a	n/a
48	CCNT2	chr5:60241747-60241947	K562	blood:	n/a	n/a
49	CCNT2	chr5:60240705-60241024	K562	blood:	n/a	n/a
50	CCNT2	chr5:60148817-60149120	K562	blood:	n/a	n/a

(count:2078 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60132712-60132762	NB4	blood:	n/a
2	chr5:60141082-60141132	BE2_C	brain:	n/a
3	chr5:60239580-60239630	Hela-S3	cervix:	n/a
4	chr5:60139293-60139343	GM12878	blood:	n/a
5	chr5:60132712-60132762	NB4	blood:	n/a
6	chr5:60141082-60141132	BE2_C	brain:	n/a
7	chr5:60239580-60239630	Hela-S3	cervix:	n/a
8	chr5:60139293-60139343	GM12878	blood:	n/a
9	chr5:60142446-60142496	Caco-2	colon:	n/a
10	chr5:60240870-60240920	HRE	kidney:	n/a
11	chr5:60240838-60240888	MCF-7	breast:	n/a
12	chr5:60241424-60241474	HMEC	breast:	n/a
13	chr5:60240870-60240920	HCM	heart:	n/a
14	chr5:60240926-60240976	MCF-7	breast:	n/a
15	chr5:60142446-60142496	SK-N-MC	brain:	n/a
16	chr5:60170058-60170108	HepG2	liver:	n/a
17	chr5:60139941-60139991	NHBE	bronchial:	n/a
18	chr5:60138761-60138811	PFSK-1	brain:	n/a
19	chr5:60240870-60240920	AG09309	skin:	n/a
20	chr5:60187211-60187261	HCM	heart:	n/a
21	chr5:60240838-60240888	Hela-S3	cervix:	n/a
22	chr5:60138838-60138888	HEK293	kidney:	embryo
23	chr5:60137757-60137807	NT2-D1	testis:	n/a
24	chr5:60240817-60240867	HMEC	breast:	n/a
25	chr5:60170058-60170108	NB4	blood:	n/a
26	chr5:60240870-60240920	GM12891	blood:	n/a
27	chr5:60240891-60240941	SKMC	muscle:	n/a
28	chr5:60240817-60240867	LNCaP	prostate:	n/a
29	chr5:60241428-60241478	PrEC	prostate:	n/a
30	chr5:60142446-60142496	NT2-D1	testis:	n/a
31	chr5:60170058-60170108	CMK	blood:	n/a
32	chr5:60241324-60241374	HCPEpiC	choroid plexus:	n/a
33	chr5:60240870-60240920	HepG2	liver:	n/a
34	chr5:60170058-60170108	NT2-D1	testis:	n/a
35	chr5:60148273-60148323	CMK	blood:	n/a
36	chr5:60139708-60139758	HL-60	blood:	n/a
37	chr5:60139938-60139988	HIPEpiC	eye:	n/a
38	chr5:60240952-60241002	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:60139131-60139181	NB4	blood:	n/a
40	chr5:60239580-60239630	GM19239	blood:	n/a
41	chr5:60140824-60140874	GM19239	blood:	n/a
42	chr5:60240838-60240888	PANC-1	pancreas:	n/a
43	chr5:60139938-60139988	ovcar-3	ovarian:	n/a
44	chr5:60241003-60241053	ProgFib	skin:	n/a
45	chr5:60139420-60139470	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:60138761-60138811	NH-A	brain:	n/a
47	chr5:60240670-60240720	IMR90	lung:	fetal
48	chr5:60240568-60240618	RPTEC	kidney:	n/a
49	chr5:60148273-60148323	T-47D	breast:	n/a
50	chr5:60138883-60138933	GM06990	blood:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:156698013..156698560-chr5:60240745..60241454,2	Hela-S3	cervix:
2	chr5:60115551..60118264-chr5:60126347..60128654,2	MCF-7	breast:
3	chr5:60234534..60237256-chr5:60239004..60241956,3	K562	blood:
4	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
5	chr5:10761355..10761920-chr5:60240758..60241387,2	NB4	blood:
6	chr5:60232184..60235811-chr5:60236501..60239833,3	K562	blood:
7	chr2:25194755..25195595-chr5:60240745..60241487,2	Hela-S3	cervix:
8	chr5:60062138..60063887-chr5:60122646..60125586,2	K562	blood:
9	chr5:60244730..60246591-chr5:60250985..60252968,2	MCF-7	breast:
10	chr5:60150200..60152775-chr5:60153410..60154990,2	MCF-7	breast:
11	chr5:60246470..60249444-chr5:60252320..60255288,2	K562	blood:
12	chr5:60138882..60141126-chr5:60148557..60150953,2	MCF-7	breast:
13	chr5:60147000..60148847-chr5:60149735..60152461,2	MCF-7	breast:
14	chr5:59973247..59973801-chr5:60224508..60225118,3	K562	blood:
15	chr5:60249583..60251720-chr5:60253693..60255301,2	K562	blood:
16	chr5:60197378..60199717-chr5:60210725..60212735,2	K562	blood:
17	chr5:60182235..60184103-chr5:60240425..60242925,2	MCF-7	breast:
18	chr5:60261942..60265146-chr5:60457137..60459002,3	MCF-7	breast:
19	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
20	chr5:60238110..60240722-chr5:60956482..60958434,2	MCF-7	breast:
21	chr5:60254798..60255532-chr5:60954065..60954863,2	K562	blood:
22	chr5:60246470..60249444-chr5:60252320..60255288,2	K562	blood:
23	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
24	chr5:60119778..60121322-chr5:60121327..60122978,2	K562	blood:
25	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
26	chr5:60115551..60118264-chr5:60126347..60128654,2	MCF-7	breast:
27	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
28	chr19:10314099..10314599-chr5:60155075..60155644,2	Hela-S3	cervix:
29	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
30	chr5:60197378..60199717-chr5:60210725..60212735,2	K562	blood:
31	chr5:60117200..60119232-chr5:60122303..60124424,2	K562	blood:
32	chr5:60238903..60241711-chr5:60255745..60258195,2	K562	blood:
33	chr5:60143868..60145505-chr5:60146013..60148610,2	K562	blood:
34	chr5:60150200..60152775-chr5:60153410..60154990,2	MCF-7	breast:
35	chr5:60141307..60144527-chr5:60240837..60243388,3	K562	blood:
36	chr5:60234928..60236588-chr5:60398367..60400919,2	K562	blood:
37	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:
38	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
39	chr5:60134031..60135823-chr5:60138767..60140768,2	MCF-7	breast:
40	chr5:60132825..60135249-chr5:60136200..60138330,2	K562	blood:
41	chr5:60239573..60241896-chr5:60245590..60248548,2	K562	blood:
42	chr5:60117200..60119232-chr5:60122303..60124424,2	K562	blood:
43	chr5:60143868..60145505-chr5:60146013..60148610,2	K562	blood:
44	chr5:60244987..60247970-chr5:60252320..60254157,2	K562	blood:
45	chr5:60239789..60242454-chr5:60245834..60249187,6	MCF-7	breast:
46	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
47	chr5:60248322..60251287-chr5:60256158..60258205,2	K562	blood:
48	chr5:60198217..60200090-chr5:60210725..60213432,2	K562	blood:
49	chr5:59995891..59998683-chr5:60261062..60263658,2	K562	blood:
50	chr5:60248420..60251083-chr5:60253409..60255301,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 5152 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:5152 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17331746	chr5:60116613-60116614	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573117150	chr5:60116653-60116654	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147694794	chr5:60116728-60116729	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142322726	chr5:60116750-60116751	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529702277	chr5:60116757-60116758	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549553615	chr5:60116830-60116831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563294173	chr5:60116840-60116841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188047953	chr5:60116848-60116849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552458905	chr5:60116856-60116857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6449505	chr5:60116880-60116881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs530952349	chr5:60116884-60116885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548364595	chr5:60116885-60116886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568608108	chr5:60116910-60116911	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372284059	chr5:60117059-60117060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144636627	chr5:60117067-60117068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114656426	chr5:60117069-60117070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557104193	chr5:60117085-60117086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577154623	chr5:60117119-60117120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539417313	chr5:60117120-60117121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553651617	chr5:60117161-60117162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573154103	chr5:60117180-60117181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542030915	chr5:60117181-60117182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145064212	chr5:60117198-60117199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574240988	chr5:60117199-60117200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4700394	chr5:60117202-60117203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs563201494	chr5:60117218-60117219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532152813	chr5:60117326-60117327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377248962	chr5:60117345-60117346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559694732	chr5:60117393-60117394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs369686069	chr5:60117472-60117473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78866268	chr5:60117481-60117482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369089152	chr5:60117485-60117486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs6871557	chr5:60117506-60117507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs200559441	chr5:60117530-60117531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149119470	chr5:60117538-60117539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576067277	chr5:60117645-60117646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570829512	chr5:60117662-60117663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6893642	chr5:60117723-60117724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs553054355	chr5:60117758-60117759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566866716	chr5:60117790-60117791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143124070	chr5:60117791-60117792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148257748	chr5:60117860-60117861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191337319	chr5:60117940-60117941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544449480	chr5:60117948-60117949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557018788	chr5:60117990-60117991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369212886	chr5:60118055-60118056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74341852	chr5:60118075-60118076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35624605	chr5:60118079-60118080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184978347	chr5:60118100-60118101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187789031	chr5:60118111-60118112	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60102200-60137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:60103000-60125600	Weak transcription	Brain Angular Gyrus	brain
3	chr5:60103000-60129000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:60106600-60121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:60107000-60122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60107400-60125600	Weak transcription	NHEK	skin
7	chr5:60109200-60121400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:60110600-60129000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:60112600-60120400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:60115600-60117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:60115800-60118600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:60116600-60116800	Active TSS	K562	blood
13	chr5:60116600-60117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:60116600-60117600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:60116600-60118200	Enhancers	GM12878-XiMat	blood
16	chr5:60116800-60117400	Flanking Active TSS	K562	blood
17	chr5:60116800-60117600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:60116800-60117600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:60116800-60118400	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:60117400-60120800	Enhancers	K562	blood
21	chr5:60117600-60118800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:60118200-60118600	Flanking Active TSS	GM12878-XiMat	blood
23	chr5:60118400-60122800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:60118600-60122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:60118600-60124200	Enhancers	GM12878-XiMat	blood
26	chr5:60118800-60122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:60119600-60120400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:60120200-60120800	Enhancers	Brain Substantia Nigra	brain
29	chr5:60120400-60120800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:60120800-60123600	Weak transcription	Brain Substantia Nigra	brain
31	chr5:60120800-60132200	Weak transcription	K562	blood
32	chr5:60121400-60121600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:60122000-60122200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:60122200-60123000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:60122400-60122800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:60122400-60123000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:60122400-60124800	Enhancers	A549	lung
38	chr5:60122600-60123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:60122800-60123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:60122800-60123000	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:60122800-60131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:60123000-60125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:60123000-60125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:60123000-60125800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:60123600-60124000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:60123600-60124000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:60123600-60124000	Enhancers	Pancreas	Pancrea
48	chr5:60123600-60124200	Enhancers	Brain Substantia Nigra	brain
49	chr5:60123800-60124000	Enhancers	Esophagus	oesophagus
50	chr5:60124000-60133600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links