Variant report

Variant	esv3429322
Chromosome Location	chr21:17101431-17103829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:628)
CpG islands
(count:305)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:17101358-17101664	K562	blood:	n/a	n/a
2	ARID3A	chr21:17103323-17105043	K562	blood:	n/a	n/a
3	ARID3A	chr21:17102314-17102494	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:17101689-17101922	HepG2	liver:	n/a	n/a
5	BACH1	chr21:17102868-17103144	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:17101944-17102020	K562	blood:	n/a	n/a
7	BACH1	chr21:17101870-17102591	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr21:17102799-17103184	GM12878	blood:	n/a	n/a
9	BCLAF1	chr21:17102245-17102734	GM12878	blood:	n/a	chr21:17102588-17102596
10	BHLHE40	chr21:17102263-17102479	A549	lung:	n/a	chr21:17102442-17102458
11	BHLHE40	chr21:17101713-17102910	GM12878	blood:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
12	BHLHE40	chr21:17101719-17102869	HepG2	liver:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
13	BHLHE40	chr21:17101798-17104332	K562	blood:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
14	BRCA1	chr21:17101669-17102007	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr21:17102422-17102475	HepG2	liver:	n/a	n/a
16	BRCA1	chr21:17103021-17103970	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr21:17101886-17103232	K562	blood:	n/a	chr21:17102133-17102142 chr21:17102878-17102887
18	CEBPB	chr21:17103466-17103814	A549	lung:	n/a	n/a
19	CEBPB	chr21:17101704-17102073	K562	blood:	n/a	n/a
20	CEBPB	chr21:17101678-17102049	IMR90	lung:	n/a	n/a
21	CEBPB	chr21:17103060-17103973	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr21:17102294-17102414	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr21:17103118-17103979	K562	blood:	n/a	n/a
24	CEBPB	chr21:17103313-17103544	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr21:17101868-17102139	HepG2	liver:	n/a	n/a
26	CEBPB	chr21:17101488-17102650	Hela-S3	cervix:	n/a	chr21:17101548-17101559
27	CEBPD	chr21:17103521-17103995	K562	blood:	n/a	n/a
28	CHD1	chr21:17102262-17103331	IMR90	lung:	n/a	chr21:17102660-17102670
29	CHD1	chr21:17101798-17103412	GM12878	blood:	n/a	chr21:17102660-17102670
30	CHD1	chr21:17102293-17102491	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr21:17103053-17103700	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr21:17101772-17102718	Hela-S3	cervix:	n/a	chr21:17102660-17102670
33	CHD2	chr21:17102008-17102839	GM12878	blood:	n/a	chr21:17102660-17102670
34	CHD2	chr21:17101813-17102564	K562	blood:	n/a	n/a
35	CHD2	chr21:17102108-17102463	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr21:17102069-17102491	HepG2	liver:	n/a	n/a
37	CREB1	chr21:17101901-17102638	A549	lung:	n/a	n/a
38	CREB1	chr21:17101789-17102787	HepG2	liver:	n/a	n/a
39	CTBP2	chr21:17101903-17102641	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr21:17102520-17102670	GM12868	blood:	n/a	n/a
41	CTCF	chr21:17102020-17102170	HMEC	breast:	n/a	chr21:17102125-17102138
42	CTCF	chr21:17102273-17102977	SK-N-SH	brain:	n/a	chr21:17102769-17102782 chr21:17102769-17102782
43	CTCF	chr21:17102480-17102630	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr21:17102377-17102389	GM12891	blood:	n/a	n/a
45	CTCF	chr21:17102480-17102630	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr21:17102003-17102033	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:17102500-17102650	K562	blood:	n/a	n/a
48	CTCF	chr21:17102500-17102650	NHEK	skin:	n/a	n/a
49	CTCF	chr21:17102440-17102590	GM12875	blood:	n/a	n/a
50	CTCF	chr21:17102467-17102705	GM10266	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:17102764-17102814	Caco-2	colon:	n/a
2	chr21:17102990-17103040	NT2-D1	testis:	n/a
3	chr21:17101987-17102037	A549	lung:	n/a
4	chr21:17102764-17102814	AG04449	skin:	fetal
5	chr21:17102764-17102814	HPAEpiC	pulmonary alveolar:	n/a
6	chr21:17101987-17102037	GM12878	blood:	n/a
7	chr21:17101917-17101967	PANC-1	pancreas:	n/a
8	chr21:17102764-17102814	GM12878	blood:	n/a
9	chr21:17101987-17102037	HAEpiC	amniotic membrane:	n/a
10	chr21:17102764-17102814	HCF	heart:	n/a
11	chr21:17101917-17101967	HEEpiC	esophagus:	n/a
12	chr21:17101987-17102037	RPTEC	kidney:	n/a
13	chr21:17102999-17103049	U87	brain:	n/a
14	chr21:17102764-17102814	RPTEC	kidney:	n/a
15	chr21:17102999-17103049	SK-N-SH	brain:	n/a
16	chr21:17102764-17102814	HEK293	kidney:	embryo
17	chr21:17101917-17101967	SK-N-SH_RA	brain:	n/a
18	chr21:17101987-17102037	IMR90	lung:	fetal
19	chr21:17101987-17102037	LNCaP	prostate:	n/a
20	chr21:17102990-17103040	HCPEpiC	choroid plexus:	n/a
21	chr21:17102999-17103049	HRCEpiC	kidney:	n/a
22	chr21:17102990-17103040	K562	blood:	n/a
23	chr21:17102990-17103040	T-47D	breast:	n/a
24	chr21:17101987-17102037	HEEpiC	esophagus:	n/a
25	chr21:17102764-17102814	PFSK-1	brain:	n/a
26	chr21:17102764-17102814	IMR90	lung:	fetal
27	chr21:17101917-17101967	HRPEpiC	eye:	n/a
28	chr21:17102999-17103049	IMR90	lung:	fetal
29	chr21:17101917-17101967	HCF	heart:	n/a
30	chr21:17101987-17102037	Hela-S3	cervix:	n/a
31	chr21:17101917-17101967	CMK	blood:	n/a
32	chr21:17102999-17103049	ovcar-3	ovarian:	n/a
33	chr21:17102990-17103040	NB4	blood:	n/a
34	chr21:17101917-17101967	HCM	heart:	n/a
35	chr21:17102764-17102814	HRPEpiC	eye:	n/a
36	chr21:17102999-17103049	H1-hESC	embryonic stem cell:	embryo
37	chr21:17102990-17103040	PFSK-1	brain:	n/a
38	chr21:17102990-17103040	HepG2	liver:	n/a
39	chr21:17102990-17103040	IMR90	lung:	fetal
40	chr21:17102990-17103040	AG04449	skin:	fetal
41	chr21:17102999-17103049	HCPEpiC	choroid plexus:	n/a
42	chr21:17102764-17102814	HL-60	blood:	n/a
43	chr21:17102999-17103049	K562	blood:	n/a
44	chr21:17102999-17103049	AG09319	gingival:	n/a
45	chr21:17102999-17103049	ECC-1	luminal epithelium:	n/a
46	chr21:17101987-17102037	BE2_C	brain:	n/a
47	chr21:17101917-17101967	HEK293	kidney:	embryo
48	chr21:17101987-17102037	AG09309	skin:	n/a
49	chr21:17101987-17102037	H1-hESC	embryonic stem cell:	embryo
50	chr21:17102990-17103040	Caco-2	colon:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
2	chr21:17101236..17104015-chr21:17196099..17198458,3	MCF-7	breast:
3	chr21:17102987..17104761-chr21:17143817..17145697,2	K562	blood:
4	chr21:17102020..17103667-chr21:17103702..17105250,2	K562	blood:
5	chr1:144533860..144534669-chr21:17102967..17103936,2	Hela-S3	cervix:
6	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:
7	chr1:153508232..153508742-chr21:17102120..17102741,2	Hela-S3	cervix:
8	chr1:28907941..28908781-chr21:17101990..17102822,2	Hela-S3	cervix:
9	chr21:17102586..17104212-chr21:17132608..17135141,2	K562	blood:
10	chr2:232478261..232479144-chr21:17101783..17102307,2	Hela-S3	cervix:
11	chr21:17099652..17105374-chr21:17196149..17200245,6	MCF-7	breast:
12	chr21:17102502..17103070-chr9:128003344..128004042,2	Hela-S3	cervix:
13	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:
14	chr21:17102096..17103087-chrX:134185661..134186938,3	Hela-S3	cervix:
15	chr21:17103338..17105005-chr21:17169990..17172780,3	K562	blood:
16	chr21:16999755..17002610-chr21:17103802..17105409,2	MCF-7	breast:
17	chr11:6502108..6502844-chr21:17103667..17104167,2	Hela-S3	cervix:
18	chr21:17064242..17066910-chr21:17102295..17103877,2	K562	blood:

No data

Variant related genes	Relation type
USP25	TF binding region
USP25	CpG island
ENSG00000132254	chromatin interactions
ENSG00000238591	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000203950	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000221497	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000155313	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000201699	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77915935	chr21:17101507-17101508	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs185327041	chr21:17101537-17101538	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs574378672	chr21:17101559-17101560	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs190325070	chr21:17101560-17101561	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs563052200	chr21:17101564-17101565	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs75938880	chr21:17101594-17101595	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs140647708	chr21:17101611-17101612	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs533849017	chr21:17101628-17101629	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs542300736	chr21:17101662-17101663	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs145808628	chr21:17101670-17101671	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs553609520	chr21:17101703-17101704	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs527319724	chr21:17101722-17101723	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546988824	chr21:17101851-17101852	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567230293	chr21:17101879-17101880	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs138454912	chr21:17101900-17101901	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113790439	chr21:17101983-17101984	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs569796232	chr21:17101988-17101989	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs538438265	chr21:17102008-17102009	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs542457184	chr21:17102054-17102055	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs558259548	chr21:17102078-17102079	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs571765628	chr21:17102086-17102087	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs534232508	chr21:17102110-17102111	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs554162360	chr21:17102146-17102147	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs149218053	chr21:17102150-17102151	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs543270505	chr21:17102159-17102160	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs112626013	chr21:17102218-17102219	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs556500475	chr21:17102255-17102256	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs576603448	chr21:17102259-17102260	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs545253890	chr21:17102286-17102287	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs564676460	chr21:17102317-17102318	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs527341474	chr21:17102351-17102352	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs540637011	chr21:17102352-17102353	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs111348327	chr21:17102464-17102465	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs560515486	chr21:17102545-17102546	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs529968605	chr21:17102546-17102547	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs550078648	chr21:17102560-17102561	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs569836016	chr21:17102663-17102664	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs532377618	chr21:17102674-17102675	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs529419094	chr21:17102678-17102679	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs566061228	chr21:17102681-17102682	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370568281	chr21:17102744-17102745	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs552397283	chr21:17102815-17102816	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs75470382	chr21:17102820-17102821	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs534245222	chr21:17102821-17102822	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs9977917	chr21:17102841-17102842	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs74858409	chr21:17102859-17102860	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs567635035	chr21:17102879-17102880	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs113993764	chr21:17102893-17102894	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs148295180	chr21:17102914-17102915	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs571078289	chr21:17102961-17102962	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17096800-17101800	Weak transcription	Placenta	Placenta
2	chr21:17097600-17101600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:17101200-17101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:17101200-17101600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:17101200-17101600	Enhancers	Brain Angular Gyrus	brain
6	chr21:17101200-17101800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:17101400-17101600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr21:17101400-17101600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr21:17101400-17101600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr21:17101400-17101600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr21:17101400-17101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:17101400-17101600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr21:17101400-17101600	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:17101400-17101600	Enhancers	Primary T cells from cord blood	blood
15	chr21:17101400-17101600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr21:17101400-17101600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:17101400-17101600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:17101400-17101600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:17101400-17101600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:17101400-17101600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
21	chr21:17101400-17101600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr21:17101400-17101600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:17101400-17101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:17101400-17101600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:17101400-17101600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:17101400-17101600	Enhancers	Liver	Liver
27	chr21:17101400-17101600	Enhancers	Brain Hippocampus Middle	brain
28	chr21:17101400-17101600	Enhancers	Brain Substantia Nigra	brain
29	chr21:17101400-17101600	Enhancers	Colon Smooth Muscle	Colon
30	chr21:17101400-17101600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr21:17101400-17101600	Enhancers	Fetal Intestine Small	intestine
32	chr21:17101400-17101600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr21:17101400-17101600	Enhancers	Rectal Smooth Muscle	rectum
34	chr21:17101400-17101600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr21:17101400-17101600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr21:17101400-17101600	Bivalent Enhancer	Dnd41	blood
37	chr21:17101400-17101600	Bivalent Enhancer	HepG2	liver
38	chr21:17101400-17101600	Enhancers	HSMMtube	muscle
39	chr21:17101400-17101600	Enhancers	HUVEC	blood vessel
40	chr21:17101400-17101600	Flanking Active TSS	K562	blood
41	chr21:17101400-17101600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr21:17101400-17101600	Enhancers	NH-A	brain
43	chr21:17101400-17101600	Enhancers	NHDF-Ad	bronchial
44	chr21:17101400-17101800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr21:17101400-17101800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr21:17101400-17101800	Active TSS	Primary hematopoietic stem cells	blood
47	chr21:17101400-17101800	Flanking Active TSS	Fetal Heart	heart
48	chr21:17101400-17101800	Flanking Active TSS	Fetal Kidney	kidney
49	chr21:17101400-17101800	Enhancers	Fetal Muscle Leg	muscle
50	chr21:17101400-17101800	Flanking Active TSS	A549	lung

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