Variant report

Variant	nsv1034539
Chromosome Location	chr5:12417170-12711376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1129)
CpG islands
(count:611)
Chromatin interactive
region (count:80)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1129 , 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	chr5:12629284-12629314	K562	blood:	n/a	n/a
2	ARID3A	chr5:12611278-12611564	K562	blood:	n/a	n/a
3	ARID3A	chr5:12615141-12616053	K562	blood:	n/a	n/a
4	ARID3A	chr5:12573954-12574062	K562	blood:	n/a	n/a
5	ARID3A	chr5:12645737-12645937	K562	blood:	n/a	n/a
6	ARID3A	chr5:12587530-12587610	K562	blood:	n/a	n/a
7	ARID3A	chr5:12625817-12626175	K562	blood:	n/a	n/a
8	ARID3A	chr5:12605684-12605760	HepG2	liver:	n/a	n/a
9	ATF1	chr5:12611394-12611564	K562	blood:	n/a	n/a
10	ATF1	chr5:12599710-12599720	K562	blood:	n/a	n/a
11	ATF1	chr5:12625855-12626127	K562	blood:	n/a	n/a
12	ATF1	chr5:12615012-12615715	K562	blood:	n/a	n/a
13	ATF1	chr5:12612014-12612205	K562	blood:	n/a	n/a
14	ATF1	chr5:12434123-12434173	K562	blood:	n/a	n/a
15	ATF1	chr5:12636538-12636665	K562	blood:	n/a	n/a
16	ATF2	chr5:12623287-12624095	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:12662664-12663813	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr5:12657998-12658420	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:12662712-12663504	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr5:12648499-12649011	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr5:12658521-12660660	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr5:12668042-12668298	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr5:12667909-12668201	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:12660692-12662536	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:12627636-12627648	K562	blood:	n/a	n/a
26	BACH1	chr5:12627924-12628106	K562	blood:	n/a	n/a
27	BACH1	chr5:12615423-12615929	K562	blood:	n/a	n/a
28	BCL11A	chr5:12505213-12505415	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCLAF1	chr5:12615205-12615584	K562	blood:	n/a	n/a
30	BHLHE40	chr5:12614798-12616107	K562	blood:	n/a	n/a
31	BHLHE40	chr5:12574678-12575143	K562	blood:	n/a	n/a
32	BHLHE40	chr5:12616429-12616837	K562	blood:	n/a	n/a
33	CBX3	chr5:12578931-12579331	K562	blood:	n/a	n/a
34	CBX3	chr5:12662769-12663016	K562	blood:	n/a	n/a
35	CBX3	chr5:12615155-12615822	K562	blood:	n/a	n/a
36	CBX3	chr5:12574582-12575256	K562	blood:	n/a	n/a
37	CCNT2	chr5:12574035-12574280	K562	blood:	n/a	n/a
38	CCNT2	chr5:12678478-12678604	K562	blood:	n/a	n/a
39	CCNT2	chr5:12615096-12615905	K562	blood:	n/a	n/a
40	CCNT2	chr5:12574667-12575084	K562	blood:	n/a	n/a
41	CEBPB	chr5:12605752-12606016	HepG2	liver:	n/a	chr5:12605883-12605894 chr5:12605840-12605851
42	CEBPB	chr5:12566709-12566868	A549	lung:	n/a	chr5:12566765-12566776
43	CEBPB	chr5:12637663-12637972	IMR90	lung:	n/a	chr5:12637809-12637820
44	CEBPB	chr5:12566600-12566907	Hela-S3	cervix:	n/a	chr5:12566765-12566776
45	CEBPB	chr5:12501654-12501824	HepG2	liver:	n/a	chr5:12501682-12501693 chr5:12501680-12501691
46	CEBPB	chr5:12636501-12636856	Hela-S3	cervix:	n/a	chr5:12636734-12636745
47	CEBPB	chr5:12592192-12592505	IMR90	lung:	n/a	chr5:12592345-12592356 chr5:12592343-12592356 chr5:12592343-12592354 chr5:12592345-12592354
48	CEBPB	chr5:12637630-12637985	K562	blood:	n/a	chr5:12637809-12637820
49	CEBPB	chr5:12679336-12679361	Hela-S3	cervix:	n/a	chr5:12679342-12679353 chr5:12679342-12679355 chr5:12679342-12679353
50	CEBPB	chr5:12705482-12705783	HepG2	liver:	n/a	chr5:12705646-12705655

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:12574872-12574922	AG04450	lung:	fetal
2	chr5:12574872-12574922	AG04450	lung:	fetal
3	chr5:12663018-12663068	SK-N-SH	brain:	n/a
4	chr5:12669584-12669634	GM12878	blood:	n/a
5	chr5:12615428-12615478	HEK293	kidney:	embryo
6	chr5:12660863-12660913	SK-N-MC	brain:	n/a
7	chr5:12663018-12663068	SKMC	muscle:	n/a
8	chr5:12623177-12623227	NHDF-neo	bronchial:	n/a
9	chr5:12615428-12615478	HL-60	blood:	n/a
10	chr5:12615428-12615478	MCF-7	breast:	n/a
11	chr5:12660863-12660913	AG09319	gingival:	n/a
12	chr5:12574872-12574922	SK-N-SH	brain:	n/a
13	chr5:12663018-12663068	MCF10A-Er-Src	breast:	n/a
14	chr5:12660863-12660913	GM12892	blood:	n/a
15	chr5:12574872-12574922	SK-N-MC	brain:	n/a
16	chr5:12574688-12574738	AG04449	skin:	fetal
17	chr5:12636281-12636331	AG04450	lung:	fetal
18	chr5:12665869-12665919	K562	blood:	n/a
19	chr5:12665869-12665919	HMEC	breast:	n/a
20	chr5:12623177-12623227	GM06990	blood:	n/a
21	chr5:12660863-12660913	RPTEC	kidney:	n/a
22	chr5:12636281-12636331	PrEC	prostate:	n/a
23	chr5:12636281-12636331	K562	blood:	n/a
24	chr5:12660863-12660913	HepG2	liver:	n/a
25	chr5:12669584-12669634	K562	blood:	n/a
26	chr5:12660863-12660913	NB4	blood:	n/a
27	chr5:12623177-12623227	RPTEC	kidney:	n/a
28	chr5:12663018-12663068	GM19239	blood:	n/a
29	chr5:12665869-12665919	H1-hESC	embryonic stem cell:	embryo
30	chr5:12615428-12615478	NHDF-neo	bronchial:	n/a
31	chr5:12574872-12574922	ECC-1	luminal epithelium:	n/a
32	chr5:12574688-12574738	HIPEpiC	eye:	n/a
33	chr5:12615428-12615478	AoSMC	blood vessel:	n/a
34	chr5:12574872-12574922	U87	brain:	n/a
35	chr5:12623177-12623227	PFSK-1	brain:	n/a
36	chr5:12665869-12665919	AoSMC	blood vessel:	n/a
37	chr5:12669584-12669634	PANC-1	pancreas:	n/a
38	chr5:12661875-12661925	A549	lung:	n/a
39	chr5:12623177-12623227	HUVEC	blood vessel:	n/a
40	chr5:12669584-12669634	ProgFib	skin:	n/a
41	chr5:12663018-12663068	SK-N-MC	brain:	n/a
42	chr5:12669584-12669634	AG09319	gingival:	n/a
43	chr5:12623177-12623227	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:12623177-12623227	HCF	heart:	n/a
45	chr5:12661875-12661925	K562	blood:	n/a
46	chr5:12660863-12660913	HMEC	breast:	n/a
47	chr5:12574872-12574922	Hela-S3	cervix:	n/a
48	chr5:12665869-12665919	GM06990	blood:	n/a
49	chr5:12665869-12665919	NHBE	bronchial:	n/a
50	chr5:12636281-12636331	GM12891	blood:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:12554220..12555829-chr5:12556078..12558191,2	MCF-7	breast:
2	chr5:12557146..12558747-chr5:12560771..12562482,2	K562	blood:
3	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
4	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
5	chr5:12589520..12591629-chr5:12614668..12616853,2	K562	blood:
6	chr5:12612602..12617488-chr5:12617661..12622972,6	K562	blood:
7	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
8	chr5:12554220..12555829-chr5:12556078..12558191,2	MCF-7	breast:
9	chr5:12557146..12558747-chr5:12560771..12562482,2	K562	blood:
10	chr5:12576814..12579689-chr5:12594654..12596559,2	K562	blood:
11	chr5:12579389..12581538-chr5:12592252..12594102,2	K562	blood:
12	chr5:12542323..12544151-chr5:12547320..12550095,2	K562	blood:
13	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
14	chr5:12588618..12591381-chr5:12596169..12597807,2	K562	blood:
15	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
16	chr5:12573179..12575899-chr5:12592386..12594967,2	K562	blood:
17	chr5:12579405..12581985-chr5:12616959..12619800,2	K562	blood:
18	chr5:12588618..12591381-chr5:12596169..12597807,2	K562	blood:
19	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
20	chr5:12562087..12563881-chr5:12566086..12568996,3	K562	blood:
21	chr5:12577735..12580318-chr5:12581576..12583762,3	K562	blood:
22	chr5:12566855..12569678-chr5:12570834..12573967,4	MCF-7	breast:
23	chr5:12569399..12571855-chr5:12571987..12574855,2	K562	blood:
24	chr5:12588869..12590687-chr5:12605878..12607397,2	K562	blood:
25	chr5:12580769..12583015-chr5:13118744..13121010,2	K562	blood:
26	chr5:12579463..12582015-chr5:12766907..12769227,3	K562	blood:
27	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
28	chr5:12637154..12639145-chr5:12647301..12649033,2	K562	blood:
29	chr5:12654971..12655664-chr8:60884734..60885526,2	MCF-7	breast:
30	chr5:12581974..12583485-chr5:12585485..12587761,2	K562	blood:
31	chr5:12571887..12574871-chr5:12612831..12615771,3	K562	blood:
32	chr5:12588869..12590687-chr5:12605878..12607397,2	K562	blood:
33	chr2:127182543..127183530-chr5:12689783..12690762,2	MCF-7	breast:
34	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:
35	chr5:12576814..12579689-chr5:12594654..12596559,2	K562	blood:
36	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:
37	chr5:12608674..12611130-chr5:12636501..12638880,2	K562	blood:
38	chr5:12581974..12583485-chr5:12585485..12587761,2	K562	blood:
39	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
40	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
41	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
42	chr5:12537002..12539656-chr5:12586201..12588814,2	K562	blood:
43	chr5:12573778..12576984-chr5:12577746..12580874,3	K562	blood:
44	chr5:12572185..12574233-chr5:12590584..12592577,2	K562	blood:
45	chr5:12612602..12617488-chr5:12617661..12622972,6	K562	blood:
46	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:
47	chr5:12637921..12640108-chr5:12640320..12642573,2	K562	blood:
48	chr5:12652956..12655094-chr5:12656361..12658712,2	MCF-7	breast:
49	chr5:12614374..12617488-chr5:12617619..12619777,3	K562	blood:
50	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-4	chr5:12595809-12595890	ENSG00000248131
2	lnc-TRIO-9	chr5:12648871-12648890	l_2878_chr5:12648870-12708792_testes
3	lnc-TRIO-4	chr5:12595809-12595890	NONHSAT100514
4	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
5	lnc-CTNND2-3	chr5:12659546-12660157	NONHSAT100517
6	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131
7	lnc-TRIO-4	chr5:12574969-12575164	NONHSAT100514
8	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131
9	lnc-CTNND2-3	chr5:12663441-12664022	NONHSAT100517
10	lnc-TRIO-9	chr5:12707759-12708641	l_2878_chr5:12648870-12708792_testes
11	lnc-TRIO-4	chr5:12654759-12655799	ENSG00000248131
12	lnc-CTNND2-3	chr5:12657511-12658227	NONHSAT100517
13	lnc-TRIO-4	chr5:12595809-12595890	ENSG00000248131
14	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100511
15	lnc-TRIO-4	chr5:12595809-12595890	ENSG00000248131
16	lnc-TRIO-9	chr5:12708650-12708792	l_2878_chr5:12648870-12708792_testes
17	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100514
18	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131
19	lnc-CTNND2-3	chr5:12653170-12654688	NONHSAT100517
20	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
21	lnc-TRIO-4	chr5:12574969-12575164	NONHSAT100511

No data

Variant related genes	Relation type
ENSG00000248783	TF binding region
CT49	TF binding region
ENSG00000264921	TF binding region
ENSG00000248783	CpG island
CT49	CpG island
ENSG00000264921	CpG island
ENSG00000248783	chromatin interactions
ENSG00000231188	chromatin interactions
ENSG00000248131	chromatin interactions
ENSG00000099194	chromatin interactions
FAM171A1	miRNA target sites
BMPR2	miRNA target sites
CITED2	miRNA target sites
PURA	miRNA target sites
MLL2	miRNA target sites
ABL2	miRNA target sites
ARHGEF7	miRNA target sites
PSMD7	miRNA target sites
TRIM44	miRNA target sites

Extended variants
information (count: 7645 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:7645 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10513109	chr5:12417170-12417171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542152613	chr5:12417176-12417177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560456009	chr5:12417201-12417202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527507648	chr5:12417270-12417271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550291427	chr5:12417292-12417293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374954271	chr5:12417308-12417309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564457736	chr5:12417354-12417355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560883487	chr5:12417359-12417360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531822340	chr5:12417408-12417409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549954738	chr5:12417437-12417438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568118461	chr5:12417456-12417457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535422843	chr5:12417466-12417467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547705345	chr5:12417480-12417481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6554706	chr5:12417486-12417487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539679662	chr5:12417536-12417537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558318899	chr5:12417558-12417559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571806501	chr5:12417566-12417567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576910082	chr5:12417575-12417576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537947878	chr5:12417584-12417585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149412975	chr5:12417600-12417601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553658999	chr5:12417605-12417606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191516705	chr5:12417633-12417634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369778713	chr5:12417634-12417635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536118477	chr5:12417658-12417659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4702873	chr5:12417680-12417681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572291893	chr5:12417694-12417695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77180166	chr5:12417718-12417719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397774074	chr5:12417719-12417720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527338958	chr5:12417720-12417721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10056541	chr5:12417771-12417772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532698606	chr5:12421406-12421407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372246304	chr5:12421443-12421444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148227496	chr5:12421493-12421494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141188457	chr5:12421500-12421501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187143770	chr5:12421507-12421508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs530450998	chr5:12421534-12421535	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561545938	chr5:12421540-12421541	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548556241	chr5:12421551-12421552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7736924	chr5:12421570-12421571	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189962993	chr5:12421573-12421574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546826340	chr5:12421614-12421615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571365836	chr5:12421667-12421668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182346546	chr5:12421670-12421671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186678053	chr5:12421690-12421691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544145432	chr5:12421732-12421733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569354392	chr5:12421755-12421756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536684241	chr5:12421760-12421761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12521167	chr5:12421763-12421764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554997558	chr5:12421767-12421768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540682309	chr5:12433438-12433439	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12414800-12417800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:12421400-12421800	Active TSS	Fetal Heart	heart
3	chr5:12433400-12433800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:12438800-12439400	Enhancers	Liver	Liver
5	chr5:12459200-12460000	Enhancers	Fetal Brain Female	brain
6	chr5:12460200-12461400	Enhancers	HMEC	breast
7	chr5:12462000-12469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:12488200-12488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:12488200-12488600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:12501600-12505600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:12503400-12504600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr5:12504000-12505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:12504200-12505000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:12504200-12507000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:12504400-12506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:12504600-12505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:12504600-12507400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:12505000-12505200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:12505000-12505200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:12505000-12506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:12505200-12505400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:12505200-12505400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:12505400-12505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr5:12505400-12505800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:12505600-12505800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:12505600-12506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:12505800-12506000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:12505800-12506400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:12507200-12507400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:12507600-12522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:12509800-12511800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:12532200-12532800	ZNF genes & repeats	Pancreas	Pancrea
33	chr5:12535400-12535600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:12535600-12535800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:12562600-12569200	Weak transcription	Placenta	Placenta
36	chr5:12565600-12570400	Weak transcription	K562	blood
37	chr5:12567600-12568200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:12569200-12570800	Strong transcription	Placenta	Placenta
39	chr5:12570400-12572400	Strong transcription	K562	blood
40	chr5:12570800-12573800	Weak transcription	Placenta	Placenta
41	chr5:12572400-12573000	Weak transcription	K562	blood
42	chr5:12573000-12576200	Active TSS	K562	blood
43	chr5:12573800-12575400	Active TSS	Placenta	Placenta
44	chr5:12576200-12577600	Weak transcription	K562	blood
45	chr5:12577800-12578000	ZNF genes & repeats	K562	blood
46	chr5:12578000-12581200	Weak transcription	K562	blood
47	chr5:12579800-12580800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:12579800-12581000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:12580200-12580800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:12580400-12580800	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links