Variant report

Variant	nsv518213
Chromosome Location	chr15:45421758-45464768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1607)
CpG islands
(count:2508)
Chromatin interactive
region (count:82)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1607 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45459687-45459941	K562	blood:	n/a	n/a
2	ARID3A	chr15:45461405-45461740	K562	blood:	n/a	n/a
3	ARID3A	chr15:45459757-45459773	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:45459297-45459300	K562	blood:	n/a	n/a
5	ARID3A	chr15:45423781-45424095	HepG2	liver:	n/a	n/a
6	ATF1	chr15:45455746-45455775	K562	blood:	n/a	n/a
7	ATF1	chr15:45450234-45450549	K562	blood:	n/a	n/a
8	ATF1	chr15:45449331-45449609	K562	blood:	n/a	n/a
9	ATF2	chr15:45450203-45450634	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr15:45455191-45455598	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr15:45455123-45455624	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr15:45459029-45459297	K562	blood:	n/a	chr15:45459163-45459172
13	BACH1	chr15:45461468-45461661	K562	blood:	n/a	n/a
14	BACH1	chr15:45455222-45455621	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr15:45424869-45424892	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr15:45459461-45459883	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr15:45459523-45459793	GM12878	blood:	n/a	n/a
18	BCLAF1	chr15:45455247-45455602	GM12878	blood:	n/a	chr15:45455524-45455533 chr15:45455286-45455299 chr15:45455428-45455436
19	BCLAF1	chr15:45458947-45459967	GM12878	blood:	n/a	chr15:45459191-45459204 chr15:45459123-45459136
20	BHLHE40	chr15:45458677-45459264	K562	blood:	n/a	n/a
21	BHLHE40	chr15:45459621-45459920	K562	blood:	n/a	n/a
22	BHLHE40	chr15:45455280-45455636	K562	blood:	n/a	chr15:45455345-45455361
23	BHLHE40	chr15:45431833-45431914	K562	blood:	n/a	n/a
24	BHLHE40	chr15:45455035-45455664	HepG2	liver:	n/a	chr15:45455345-45455361
25	BHLHE40	chr15:45427134-45427453	GM12878	blood:	n/a	n/a
26	BHLHE40	chr15:45461606-45461822	K562	blood:	n/a	n/a
27	BHLHE40	chr15:45459057-45459957	GM12878	blood:	n/a	n/a
28	BRCA1	chr15:45455210-45455508	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr15:45455262-45455585	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr15:45455411-45455611	GM12878	blood:	n/a	n/a
31	BRCA1	chr15:45459103-45459895	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr15:45461391-45461823	K562	blood:	n/a	n/a
33	CBX3	chr15:45459551-45459919	K562	blood:	n/a	n/a
34	CCNT2	chr15:45461491-45461907	K562	blood:	n/a	chr15:45461645-45461665
35	CCNT2	chr15:45458624-45459873	K562	blood:	n/a	n/a
36	CEBPB	chr15:45459114-45459907	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr15:45462863-45462998	K562	blood:	n/a	chr15:45462905-45462916
38	CEBPB	chr15:45438733-45438811	A549	lung:	n/a	n/a
39	CEBPB	chr15:45455280-45455547	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr15:45463010-45463056	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr15:45449282-45449594	IMR90	lung:	n/a	n/a
42	CEBPB	chr15:45456673-45456871	Hela-S3	cervix:	n/a	chr15:45456722-45456733
43	CEBPB	chr15:45456690-45456772	A549	lung:	n/a	chr15:45456722-45456733
44	CEBPB	chr15:45462869-45462918	IMR90	lung:	n/a	chr15:45462905-45462916
45	CEBPB	chr15:45456556-45456906	HepG2	liver:	n/a	chr15:45456722-45456733
46	CEBPB	chr15:45438712-45438912	HepG2	liver:	n/a	n/a
47	CEBPB	chr15:45438606-45438936	IMR90	lung:	n/a	n/a
48	CEBPB	chr15:45456680-45456892	IMR90	lung:	n/a	chr15:45456722-45456733
49	CEBPB	chr15:45455075-45455565	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr15:45450224-45450536	IMR90	lung:	n/a	n/a

(count:2508 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45427577-45427627	SK-N-MC	brain:	n/a
2	chr15:45458906-45458956	A549	lung:	n/a
3	chr15:45459467-45459517	GM12878	blood:	n/a
4	chr15:45427734-45427784	HNPCEpiC	eye:	n/a
5	chr15:45444323-45444373	NT2-D1	testis:	n/a
6	chr15:45423543-45423593	HL-60	blood:	n/a
7	chr15:45422083-45422133	HRE	kidney:	n/a
8	chr15:45427577-45427627	SK-N-MC	brain:	n/a
9	chr15:45458906-45458956	A549	lung:	n/a
10	chr15:45459467-45459517	GM12878	blood:	n/a
11	chr15:45427734-45427784	HNPCEpiC	eye:	n/a
12	chr15:45444323-45444373	NT2-D1	testis:	n/a
13	chr15:45423543-45423593	HL-60	blood:	n/a
14	chr15:45422083-45422133	HRE	kidney:	n/a
15	chr15:45459467-45459517	ovcar-3	ovarian:	n/a
16	chr15:45459300-45459350	NH-A	brain:	n/a
17	chr15:45444606-45444656	SAEC	small airway:	n/a
18	chr15:45421860-45421910	HRE	kidney:	n/a
19	chr15:45427297-45427347	Hela-S3	cervix:	n/a
20	chr15:45461444-45461494	SKMC	muscle:	n/a
21	chr15:45434285-45434335	HUVEC	blood vessel:	n/a
22	chr15:45427297-45427347	NHDF-neo	bronchial:	n/a
23	chr15:45440540-45440590	HEEpiC	esophagus:	n/a
24	chr15:45423543-45423593	ECC-1	luminal epithelium:	n/a
25	chr15:45428812-45428862	NB4	blood:	n/a
26	chr15:45444219-45444269	HCF	heart:	n/a
27	chr15:45458906-45458956	Jurkat	blood:	n/a
28	chr15:45427034-45427084	HUVEC	blood vessel:	n/a
29	chr15:45434285-45434335	IMR90	lung:	fetal
30	chr15:45421951-45422001	GM06990	blood:	n/a
31	chr15:45459300-45459350	PrEC	prostate:	n/a
32	chr15:45440540-45440590	PFSK-1	brain:	n/a
33	chr15:45423543-45423593	HCF	heart:	n/a
34	chr15:45421749-45421799	AG04450	lung:	fetal
35	chr15:45427734-45427784	AoSMC	blood vessel:	n/a
36	chr15:45461444-45461494	AG04450	lung:	fetal
37	chr15:45421860-45421910	PANC-1	pancreas:	n/a
38	chr15:45461636-45461686	AG09319	gingival:	n/a
39	chr15:45434285-45434335	HL-60	blood:	n/a
40	chr15:45457620-45457670	HepG2	liver:	n/a
41	chr15:45422004-45422054	PFSK-1	brain:	n/a
42	chr15:45459406-45459456	NT2-D1	testis:	n/a
43	chr15:45459467-45459517	IMR90	lung:	fetal
44	chr15:45422325-45422375	HRE	kidney:	n/a
45	chr15:45422553-45422603	AG04450	lung:	fetal
46	chr15:45427034-45427084	Hepatocyte	liver:	n/a
47	chr15:45427297-45427347	ProgFib	skin:	n/a
48	chr15:45427034-45427084	SAEC	small airway:	n/a
49	chr15:45444704-45444754	HL-60	blood:	n/a
50	chr15:45422393-45422443	HRPEpiC	eye:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:45459071..45462844-chr15:45693635..45696532,4	K562	blood:
2	chr15:45452958..45457175-chr15:45457544..45460484,6	MCF-7	breast:
3	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
4	chr15:45448307..45450001-chr15:45458633..45460393,2	MCF-7	breast:
5	chr15:45458745..45459668-chr6:33393132..33393783,2	NB4	blood:
6	chr15:45458776..45462841-chr15:45467209..45473486,10	K562	blood:
7	chr15:45444506..45446626-chr15:45455721..45457375,2	K562	blood:
8	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
9	chr15:45454753..45457923-chr15:45490933..45493735,3	K562	blood:
10	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
11	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
12	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
13	chr15:45459774..45461695-chr15:45467150..45468709,2	K562	blood:
14	chr15:45456567..45458793-chr15:45475778..45478216,2	MCF-7	breast:
15	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
16	chr15:45457064..45458836-chr15:45462821..45464924,2	MCF-7	breast:
17	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
18	chr15:45434203..45436552-chr15:45443104..45444699,2	K562	blood:
19	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
20	chr15:45454944..45455772-chr15:45568916..45570015,4	MCF-7	breast:
21	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
22	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
23	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
24	chr15:45421458..45423929-chr15:45425616..45427785,3	K562	blood:
25	chr15:45453899..45457914-chr15:45495194..45498173,3	K562	blood:
26	chr15:45454342..45456403-chr15:45741288..45744175,2	MCF-7	breast:
27	chr1:28974918..28975657-chr15:45458791..45459483,2	Hela-S3	cervix:
28	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
29	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:
30	chr15:45417539..45419456-chr15:45453596..45456552,2	K562	blood:
31	chr15:45431968..45434188-chr15:45440208..45442818,2	K562	blood:
32	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
33	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
34	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
35	chr15:45443966..45446125-chr15:45449579..45451751,2	K562	blood:
36	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:
37	chr15:45451606..45453511-chr17:56707808..56709453,2	MCF-7	breast:
38	chr11:62608445..62609565-chr15:45458977..45459729,4	Hela-S3	cervix:
39	chr15:45449609..45453236-chr15:45457803..45460650,4	K562	blood:
40	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
41	chr15:45459427..45462384-chr15:45693635..45696116,3	K562	blood:
42	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
43	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
44	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
45	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
46	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
47	chr15:45459092..45459965-chr15:75134556..75135332,2	Hela-S3	cervix:
48	chr15:45439215..45441093-chr15:45448771..45450612,2	MCF-7	breast:
49	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
50	chr15:45452614..45456559-chr15:45457211..45461369,7	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-3	chr15:45422050-45422075	NONHSAT042218
2	lnc-DUOX2-3	chr15:45421371-45421813	NONHSAT042218
3	lnc-DUOX1-1	chr15:45462542-45462732	ENSG00000259519.1
4	lnc-DUOX2-3	chr15:45422021-45422078	NONHSAT042217
5	lnc-DUOX2-3	chr15:45421353-45421813	NONHSAT042217
6	lnc-SHF-2	chr15:45444862-45445415	ENSG00000259539.1
7	lnc-SHF-2	chr15:45459684-45459724	ENSG00000259539.1

No data

Variant related genes	Relation type
ENSG00000259539	TF binding region
DUOX1	TF binding region
ENSG00000259519	TF binding region
DUOXA1	TF binding region
ENSG00000259539	CpG island
DUOX1	CpG island
ENSG00000259519	CpG island
DUOXA1	CpG island
ENSG00000259519	chromatin interactions
ENSG00000259539	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000259520	chromatin interactions
ENSG00000140254	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000140474	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000132570	chromatin interactions
ENSG00000137857	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000259354	chromatin interactions

Extended variants
information (count: 1795 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1795 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1648281	chr15:45421758-45421759	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571830789	chr15:45421781-45421782	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs537744313	chr15:45421865-45421866	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs9672158	chr15:45421878-45421879	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551227381	chr15:45421902-45421903	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs567566159	chr15:45421905-45421906	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541420588	chr15:45421929-45421930	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536633908	chr15:45421941-45421942	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553219626	chr15:45421972-45421973	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573281387	chr15:45422038-45422039	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs566784562	chr15:45422043-45422044	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs558338509	chr15:45422062-45422063	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs575046296	chr15:45422067-45422068	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs377331382	chr15:45422081-45422082	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs77225266	chr15:45422135-45422136	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs554834710	chr15:45422150-45422151	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs376450630	chr15:45422230-45422231	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs540222696	chr15:45422343-45422344	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560031015	chr15:45422356-45422357	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs180716092	chr15:45422366-45422367	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs545868724	chr15:45422397-45422398	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565501798	chr15:45422400-45422401	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs531091379	chr15:45422412-45422413	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551024598	chr15:45422416-45422417	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567925893	chr15:45422434-45422435	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530083770	chr15:45422438-45422439	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183853794	chr15:45422441-45422442	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564246916	chr15:45422456-45422457	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189368326	chr15:45422504-45422505	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556768069	chr15:45422556-45422557	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538747854	chr15:45422564-45422565	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558594037	chr15:45422627-45422628	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567112105	chr15:45422671-45422672	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534348732	chr15:45422757-45422758	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371087129	chr15:45422776-45422777	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373650000	chr15:45422792-45422793	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs55776578	chr15:45422795-45422796	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554616897	chr15:45422830-45422831	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs202011614	chr15:45422869-45422870	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140646660	chr15:45422872-45422873	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs36010308	chr15:45422876-45422877	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76887185	chr15:45422885-45422886	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145373366	chr15:45422932-45422933	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553733488	chr15:45422933-45422934	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576881080	chr15:45422963-45422964	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs137972094	chr15:45422985-45422986	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561938513	chr15:45422989-45422990	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562554530	chr15:45423058-45423059	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531156789	chr15:45423059-45423060	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182017344	chr15:45423073-45423074	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45420600-45422800	Active TSS	Esophagus	oesophagus
2	chr15:45420800-45422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:45420800-45423000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:45421000-45421800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr15:45421000-45421800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:45421000-45421800	Bivalent Enhancer	Fetal Heart	heart
7	chr15:45421000-45422000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:45421000-45422000	Active TSS	Brain Substantia Nigra	brain
9	chr15:45421000-45422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:45421000-45422200	Flanking Active TSS	Lung	lung
11	chr15:45421000-45422400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:45421000-45422400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr15:45421000-45422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr15:45421000-45422600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:45421000-45422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:45421000-45422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr15:45421000-45422600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr15:45421200-45421800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr15:45421200-45422000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:45421200-45422000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr15:45421200-45422000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr15:45421200-45422200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr15:45421200-45422200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:45421200-45422200	Bivalent Enhancer	Placenta	Placenta
27	chr15:45421200-45422200	Active TSS	Right Ventricle	heart
28	chr15:45421200-45422400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:45421200-45422400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:45421200-45422400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr15:45421200-45422400	Active TSS	Right Atrium	heart
32	chr15:45421200-45422400	Active TSS	NHEK	skin
33	chr15:45421200-45422600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:45421200-45422600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:45421200-45422800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:45421200-45422800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr15:45421200-45423200	Active TSS	Gastric	stomach
38	chr15:45421400-45421800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:45421400-45421800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr15:45421400-45421800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr15:45421400-45421800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:45421400-45421800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr15:45421400-45421800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr15:45421400-45421800	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr15:45421400-45421800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
46	chr15:45421400-45422000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr15:45421400-45422000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:45421400-45422000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:45421400-45422000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr15:45421400-45422200	Bivalent/Poised TSS	Adipose Nuclei	Adipose

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