Variant report

Variant	esv3437607
Chromosome Location	chr15:40732210-40735158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:768)
CpG islands
(count:733)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:40732294-40732396	K562	blood:	n/a	n/a
2	BHLHE40	chr15:40732831-40733131	K562	blood:	n/a	n/a
3	BHLHE40	chr15:40732884-40733168	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:40732079-40732480	K562	blood:	n/a	n/a
5	BRCA1	chr15:40733013-40733120	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr15:40734345-40734378	HepG2	liver:	n/a	n/a
7	CBX3	chr15:40731631-40732721	K562	blood:	n/a	n/a
8	CCNT2	chr15:40731590-40732277	K562	blood:	n/a	chr15:40731867-40731876
9	CCNT2	chr15:40732586-40734614	K562	blood:	n/a	chr15:40732903-40732912 chr15:40734332-40734341 chr15:40733476-40733485
10	CEBPB	chr15:40732405-40732408	Hela-S3	cervix:	n/a	n/a
11	CEBPD	chr15:40732852-40733122	HepG2	liver:	n/a	n/a
12	CEBPD	chr15:40732819-40733255	HepG2	liver:	n/a	n/a
13	CEBPD	chr15:40734297-40734529	HepG2	liver:	n/a	n/a
14	CHD1	chr15:40733391-40733874	GM12878	blood:	n/a	chr15:40733663-40733673 chr15:40733500-40733510
15	CHD1	chr15:40734259-40734453	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr15:40734295-40734351	GM12878	blood:	n/a	n/a
17	CHD2	chr15:40732268-40732325	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr15:40732745-40733218	K562	blood:	n/a	chr15:40732935-40732945
19	CHD2	chr15:40732877-40733167	H1-hESC	embryonic stem cell:	n/a	chr15:40732935-40732945
20	CHD2	chr15:40732980-40733166	HepG2	liver:	n/a	n/a
21	CHD2	chr15:40732801-40733230	GM12878	blood:	n/a	chr15:40732935-40732945
22	CHD2	chr15:40734560-40734638	GM12878	blood:	n/a	n/a
23	CHD2	chr15:40732757-40733786	Hela-S3	cervix:	n/a	chr15:40733663-40733673 chr15:40733500-40733510 chr15:40732935-40732945
24	CREB1	chr15:40732797-40733805	HepG2	liver:	n/a	n/a
25	CREB1	chr15:40732774-40733220	A549	lung:	n/a	n/a
26	CTBP2	chr15:40731562-40732717	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:40734460-40734610	NHLF	lung:	n/a	n/a
28	CTCF	chr15:40733260-40733410	HPF	lung:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
29	CTCF	chr15:40732880-40733030	AG10803	skin:	n/a	n/a
30	CTCF	chr15:40734366-40734648	HepG2	liver:	n/a	n/a
31	CTCF	chr15:40732870-40733073	GM12892	blood:	n/a	n/a
32	CTCF	chr15:40733299-40733414	MCF-7	breast:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
33	CTCF	chr15:40734440-40734590	HVMF	connective:	n/a	n/a
34	CTCF	chr15:40732997-40733002	K562	blood:	n/a	n/a
35	CTCF	chr15:40734405-40734574	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr15:40732820-40732970	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr15:40734447-40734592	GM13976	blood:	n/a	n/a
38	CTCF	chr15:40733621-40733652	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr15:40733300-40733450	SK-N-SH_RA	brain:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
40	CTCF	chr15:40733300-40733450	SAEC	small airway:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
41	CTCF	chr15:40732936-40733042	GM13977	blood:	n/a	n/a
42	CTCF	chr15:40733340-40733490	GM12874	blood:	n/a	chr15:40733380-40733393
43	CTCF	chr15:40734440-40734590	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr15:40733260-40733410	AG04450	lung:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
45	CTCF	chr15:40732940-40733090	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr15:40732880-40733030	GM12874	blood:	n/a	n/a
47	CTCF	chr15:40734440-40734590	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr15:40734373-40734590	IMR90	lung:	n/a	n/a
49	CTCF	chr15:40733320-40733470	HEEpiC	esophagus:	n/a	chr15:40733336-40733349 chr15:40733380-40733393
50	CTCF	chr15:40734442-40734562	ProgFib	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40733806-40733856	K562	blood:	n/a
2	chr15:40733806-40733856	K562	blood:	n/a
3	chr15:40735036-40735086	SK-N-MC	brain:	n/a
4	chr15:40733174-40733224	GM12892	blood:	n/a
5	chr15:40732820-40732870	HL-60	blood:	n/a
6	chr15:40733381-40733431	NHDF-neo	bronchial:	n/a
7	chr15:40735036-40735086	U87	brain:	n/a
8	chr15:40733381-40733431	HCPEpiC	choroid plexus:	n/a
9	chr15:40734369-40734419	HL-60	blood:	n/a
10	chr15:40733177-40733227	MCF10A-Er-Src	breast:	n/a
11	chr15:40732803-40732853	NT2-D1	testis:	n/a
12	chr15:40735036-40735086	IMR90	lung:	fetal
13	chr15:40734271-40734321	NHDF-neo	bronchial:	n/a
14	chr15:40732820-40732870	ovcar-3	ovarian:	n/a
15	chr15:40732202-40732252	HEEpiC	esophagus:	n/a
16	chr15:40734271-40734321	ECC-1	luminal epithelium:	n/a
17	chr15:40732820-40732870	NHDF-neo	bronchial:	n/a
18	chr15:40733110-40733160	SK-N-SH_RA	brain:	n/a
19	chr15:40733110-40733160	BJ	skin:	n/a
20	chr15:40734696-40734746	HNPCEpiC	eye:	n/a
21	chr15:40733177-40733227	ovcar-3	ovarian:	n/a
22	chr15:40732803-40732853	GM12892	blood:	n/a
23	chr15:40733174-40733224	GM06990	blood:	n/a
24	chr15:40732820-40732870	HEEpiC	esophagus:	n/a
25	chr15:40734271-40734321	AG04450	lung:	fetal
26	chr15:40734271-40734321	AG04449	skin:	fetal
27	chr15:40733177-40733227	RPTEC	kidney:	n/a
28	chr15:40732803-40732853	SK-N-MC	brain:	n/a
29	chr15:40734696-40734746	AoSMC	blood vessel:	n/a
30	chr15:40733806-40733856	SK-N-MC	brain:	n/a
31	chr15:40733381-40733431	AG04449	skin:	fetal
32	chr15:40732820-40732870	AG09309	skin:	n/a
33	chr15:40733174-40733224	AG10803	skin:	n/a
34	chr15:40733110-40733160	GM12891	blood:	n/a
35	chr15:40733110-40733160	PrEC	prostate:	n/a
36	chr15:40732803-40732853	NHDF-neo	bronchial:	n/a
37	chr15:40732803-40732853	ProgFib	skin:	n/a
38	chr15:40734696-40734746	Jurkat	blood:	n/a
39	chr15:40733381-40733431	NH-A	brain:	n/a
40	chr15:40733806-40733856	NT2-D1	testis:	n/a
41	chr15:40733381-40733431	RPTEC	kidney:	n/a
42	chr15:40732202-40732252	K562	blood:	n/a
43	chr15:40733177-40733227	K562	blood:	n/a
44	chr15:40734271-40734321	HEK293	kidney:	embryo
45	chr15:40733177-40733227	AG04450	lung:	fetal
46	chr15:40734696-40734746	SAEC	small airway:	n/a
47	chr15:40732803-40732853	MCF10A-Er-Src	breast:	n/a
48	chr15:40735036-40735086	HCT-116	colon:	n/a
49	chr15:40734271-40734321	SKMC	muscle:	n/a
50	chr15:40733177-40733227	HMEC	breast:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40659428..40662346-chr15:40732080..40734388,2	MCF-7	breast:
2	chr15:40734655..40736603-chr15:40754422..40757329,2	K562	blood:
3	chr12:120730578..120731103-chr15:40732693..40733606,2	Hela-S3	cervix:
4	chr15:40734249..40736119-chr6:28802830..28804653,2	K562	blood:
5	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
6	chr12:52444658..52445325-chr15:40732483..40733451,2	Hela-S3	cervix:
7	chr15:40615864..40617571-chr15:40734480..40736859,2	K562	blood:
8	chr15:40731663..40736686-chr15:40795056..40800792,8	K562	blood:
9	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
10	chr15:40730539..40734458-chr15:40797952..40800684,3	K562	blood:
11	chr15:40731340..40734041-chr15:41045866..41047695,2	K562	blood:
12	chr15:40732401..40734895-chr15:40758444..40760752,2	K562	blood:
13	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
14	chr15:40729975..40738939-chr15:40745780..40750666,13	K562	blood:
15	chr15:40734409..40736179-chr15:40745243..40747631,2	MCF-7	breast:
16	chr15:40732257..40736129-chr15:40757677..40760458,4	MCF-7	breast:

No data

Variant related genes	Relation type
BAHD1	TF binding region
BAHD1	CpG island
ENSG00000259368	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000169105	chromatin interactions
ENSG00000259364	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000140320	chromatin interactions
ENSG00000259536	chromatin interactions
ENSG00000140323	chromatin interactions
ENSG00000259211	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000259330	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555283022	chr15:40732238-40732239	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs575026808	chr15:40732253-40732254	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs540857909	chr15:40732270-40732271	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs560636115	chr15:40732280-40732281	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs75361878	chr15:40732334-40732335	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs545079378	chr15:40732356-40732357	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs551146560	chr15:40732417-40732418	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs569287728	chr15:40732419-40732420	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs187199883	chr15:40732449-40732450	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs530569373	chr15:40732484-40732485	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs147471163	chr15:40732570-40732571	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs539900216	chr15:40732591-40732592	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs550303995	chr15:40732617-40732618	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs561263740	chr15:40732666-40732667	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs529929467	chr15:40732715-40732716	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs546789171	chr15:40732719-40732720	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs566302704	chr15:40732737-40732738	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs538747796	chr15:40732771-40732772	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs71472440	chr15:40732793-40732794	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs568998596	chr15:40732821-40732822	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs538282700	chr15:40732855-40732856	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs554653076	chr15:40732975-40732976	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs575093788	chr15:40733043-40733044	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs534201810	chr15:40733133-40733134	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs373334928	chr15:40733168-40733169	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs554412068	chr15:40733347-40733348	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs568911086	chr15:40733432-40733433	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs577473118	chr15:40733436-40733437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs546411036	chr15:40733440-40733441	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs565020899	chr15:40733446-40733447	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs575228223	chr15:40733493-40733494	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs544228274	chr15:40733514-40733515	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs560686806	chr15:40733538-40733539	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs530023605	chr15:40733563-40733564	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs546443179	chr15:40733602-40733603	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs559923036	chr15:40733807-40733808	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs532212526	chr15:40733895-40733896	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs112795500	chr15:40733939-40733940	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs551947593	chr15:40733981-40733982	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs569035443	chr15:40734006-40734007	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs531679518	chr15:40734044-40734045	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs548588430	chr15:40734051-40734052	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs534520585	chr15:40734065-40734066	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs554546858	chr15:40734113-40734114	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs376056644	chr15:40734117-40734118	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs369397401	chr15:40734138-40734139	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs556777631	chr15:40734150-40734151	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs575312821	chr15:40734200-40734201	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs543943654	chr15:40734286-40734287	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs373618934	chr15:40734398-40734399	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40730800-40732400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:40731000-40732400	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr15:40731200-40732800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40731200-40734800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:40731400-40732400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:40731400-40732400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:40731400-40732400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:40731400-40732600	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr15:40731400-40732800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:40731400-40736000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:40731600-40732400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:40731600-40732400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:40731600-40732400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:40731600-40732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:40731600-40732600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:40731600-40732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:40731600-40732600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:40731600-40732600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr15:40731600-40732800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:40731600-40732800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:40731600-40732800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr15:40731600-40734800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:40731600-40735000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:40731600-40735200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:40731800-40732400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:40731800-40732400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr15:40731800-40732400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:40731800-40732600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr15:40731800-40732600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr15:40731800-40732600	Flanking Active TSS	Esophagus	oesophagus
33	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr15:40731800-40732600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:40731800-40732600	Enhancers	Spleen	Spleen
36	chr15:40731800-40732600	Flanking Bivalent TSS/Enh	Osteobl	bone
37	chr15:40731800-40732800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr15:40731800-40732800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr15:40731800-40732800	Flanking Active TSS	HMEC	breast
46	chr15:40731800-40732800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr15:40731800-40733400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:40731800-40734800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40731800-40734800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr15:40731800-40735000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links