Variant report

Variant	esv2830057
Chromosome Location	chr21:16960590-17113148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1805)
CpG islands
(count:611)
Chromatin interactive
region (count:71)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1805 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:17107185-17108441	K562	blood:	n/a	n/a
2	ARID3A	chr21:17113119-17113452	K562	blood:	n/a	n/a
3	ARID3A	chr21:17101689-17101922	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:17054516-17054801	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:17109712-17109843	K562	blood:	n/a	n/a
6	ARID3A	chr21:16964646-16964900	K562	blood:	n/a	n/a
7	ARID3A	chr21:17102314-17102494	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:17110578-17110811	K562	blood:	n/a	n/a
9	ARID3A	chr21:17032123-17032416	HepG2	liver:	n/a	n/a
10	ARID3A	chr21:17000298-17000319	HepG2	liver:	n/a	n/a
11	ARID3A	chr21:17103323-17105043	K562	blood:	n/a	n/a
12	ARID3A	chr21:16964668-16964944	HepG2	liver:	n/a	n/a
13	ARID3A	chr21:17101358-17101664	K562	blood:	n/a	n/a
14	ATF1	chr21:17074263-17074486	K562	blood:	n/a	n/a
15	ATF1	chr21:17067875-17067961	K562	blood:	n/a	n/a
16	ATF1	chr21:17104724-17104944	K562	blood:	n/a	n/a
17	ATF1	chr21:17079030-17079390	K562	blood:	n/a	n/a
18	ATF3	chr21:17104993-17105272	K562	blood:	n/a	n/a
19	BACH1	chr21:17101944-17102020	K562	blood:	n/a	n/a
20	BACH1	chr21:17102868-17103144	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr21:17001048-17001064	K562	blood:	n/a	n/a
22	BACH1	chr21:17101870-17102591	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr21:17104710-17104939	GM12878	blood:	n/a	n/a
24	BATF	chr21:17104694-17104952	GM12878	blood:	n/a	n/a
25	BATF	chr21:17106117-17106300	GM12878	blood:	n/a	n/a
26	BATF	chr21:17106178-17106335	GM12878	blood:	n/a	n/a
27	BCL11A	chr21:17106121-17106394	GM12878	blood:	n/a	n/a
28	BCL3	chr21:16997709-16998047	GM12878	blood:	n/a	n/a
29	BCL3	chr21:16997709-16997978	GM12878	blood:	n/a	n/a
30	BCLAF1	chr21:17102799-17103184	GM12878	blood:	n/a	n/a
31	BCLAF1	chr21:17102245-17102734	GM12878	blood:	n/a	chr21:17102588-17102596
32	BHLHE40	chr21:17101713-17102910	GM12878	blood:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
33	BHLHE40	chr21:17101798-17104332	K562	blood:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
34	BHLHE40	chr21:17101719-17102869	HepG2	liver:	n/a	chr21:17102770-17102786 chr21:17102442-17102458 chr21:17102060-17102076 chr21:17102059-17102075
35	BHLHE40	chr21:17102263-17102479	A549	lung:	n/a	chr21:17102442-17102458
36	BHLHE40	chr21:16990974-16990988	GM12878	blood:	n/a	n/a
37	BHLHE40	chr21:17106048-17106420	GM12878	blood:	n/a	n/a
38	BRCA1	chr21:17039390-17039723	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr21:17103021-17103970	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr21:17101669-17102007	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr21:17102422-17102475	HepG2	liver:	n/a	n/a
42	BRCA1	chr21:17041624-17041993	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr21:17054673-17054821	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr21:17078978-17079442	HCT-116	colon:	n/a	n/a
45	CBX3	chr21:17078887-17079488	HCT-116	colon:	n/a	n/a
46	CCNT2	chr21:17101886-17103232	K562	blood:	n/a	chr21:17102133-17102142 chr21:17102878-17102887
47	CEBPB	chr21:17105015-17105322	HepG2	liver:	n/a	n/a
48	CEBPB	chr21:17103313-17103544	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr21:17011423-17011805	HepG2	liver:	n/a	chr21:17011611-17011622 chr21:17011612-17011621 chr21:17011610-17011623
50	CEBPB	chr21:17055308-17055677	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:17100366-17100416	PFSK-1	brain:	n/a
2	chr21:17100366-17100416	PFSK-1	brain:	n/a
3	chr21:17098256-17098306	HRPEpiC	eye:	n/a
4	chr21:17100366-17100416	HEEpiC	esophagus:	n/a
5	chr21:17102990-17103040	HRE	kidney:	n/a
6	chr21:17101011-17101061	PANC-1	pancreas:	n/a
7	chr21:17098256-17098306	MCF-7	breast:	n/a
8	chr21:17106209-17106259	SK-N-SH_RA	brain:	n/a
9	chr21:17106209-17106259	HCT-116	colon:	n/a
10	chr21:17106209-17106259	NHBE	bronchial:	n/a
11	chr21:17098256-17098306	H1-hESC	embryonic stem cell:	embryo
12	chr21:17101011-17101061	T-47D	breast:	n/a
13	chr21:17102999-17103049	PrEC	prostate:	n/a
14	chr21:17101917-17101967	GM12878	blood:	n/a
15	chr21:17102990-17103040	SK-N-SH_RA	brain:	n/a
16	chr21:17102764-17102814	GM19239	blood:	n/a
17	chr21:17102764-17102814	HPAEpiC	pulmonary alveolar:	n/a
18	chr21:17102990-17103040	HMEC	breast:	n/a
19	chr21:17102990-17103040	Caco-2	colon:	n/a
20	chr21:17104741-17104791	NHBE	bronchial:	n/a
21	chr21:17101987-17102037	SK-N-SH	brain:	n/a
22	chr21:17101987-17102037	U87	brain:	n/a
23	chr21:17100366-17100416	AG10803	skin:	n/a
24	chr21:17102764-17102814	H1-hESC	embryonic stem cell:	embryo
25	chr21:17104741-17104791	GM06990	blood:	n/a
26	chr21:17101987-17102037	HIPEpiC	eye:	n/a
27	chr21:17106209-17106259	NHDF-neo	bronchial:	n/a
28	chr21:17102990-17103040	HPAEpiC	pulmonary alveolar:	n/a
29	chr21:17102990-17103040	MCF-7	breast:	n/a
30	chr21:17102990-17103040	CMK	blood:	n/a
31	chr21:17101987-17102037	PFSK-1	brain:	n/a
32	chr21:17104741-17104791	HPAEpiC	pulmonary alveolar:	n/a
33	chr21:17102990-17103040	GM12891	blood:	n/a
34	chr21:17104741-17104791	Hela-S3	cervix:	n/a
35	chr21:17102764-17102814	GM12891	blood:	n/a
36	chr21:17098256-17098306	CMK	blood:	n/a
37	chr21:17098256-17098306	MCF10A-Er-Src	breast:	n/a
38	chr21:17101011-17101061	PFSK-1	brain:	n/a
39	chr21:17101917-17101967	Hela-S3	cervix:	n/a
40	chr21:17101011-17101061	HCF	heart:	n/a
41	chr21:17104741-17104791	SK-N-MC	brain:	n/a
42	chr21:17102999-17103049	K562	blood:	n/a
43	chr21:17102764-17102814	CMK	blood:	n/a
44	chr21:17101011-17101061	HRPEpiC	eye:	n/a
45	chr21:17102999-17103049	GM06990	blood:	n/a
46	chr21:17104741-17104791	RPTEC	kidney:	n/a
47	chr21:17102990-17103040	LNCaP	prostate:	n/a
48	chr21:17102764-17102814	HEEpiC	esophagus:	n/a
49	chr21:17106209-17106259	HL-60	blood:	n/a
50	chr21:17102999-17103049	ovcar-3	ovarian:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:6502108..6502844-chr21:17103667..17104167,2	Hela-S3	cervix:
2	chr21:17076130..17076863-chr4:168171748..168172510,2	MCF-7	breast:
3	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:
4	chr21:17102020..17103667-chr21:17103702..17105250,2	K562	blood:
5	chr21:16999755..17002610-chr21:17103802..17105409,2	MCF-7	breast:
6	chr21:17105614..17107368-chr21:17115723..17117449,2	MCF-7	breast:
7	chr1:153508232..153508742-chr21:17102120..17102741,2	Hela-S3	cervix:
8	chr21:17102586..17104212-chr21:17132608..17135141,2	K562	blood:
9	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
10	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
11	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:
12	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:
13	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:
14	chr21:17064242..17066910-chr21:17102295..17103877,2	K562	blood:
15	chr21:17093352..17096770-chr21:17100515..17103324,4	MCF-7	breast:
16	chr21:17087356..17090819-chr21:17092657..17096162,4	K562	blood:
17	chr21:17105250..17107735-chr21:17192810..17196080,3	K562	blood:
18	chr21:16990382..16992239-chr21:17100657..17103328,2	MCF-7	breast:
19	chr21:17101236..17104015-chr21:17196099..17198458,3	MCF-7	breast:
20	chr21:17104089..17106756-chr21:17109896..17112248,2	MCF-7	breast:
21	chr21:17057202..17059919-chr21:17100996..17103879,3	MCF-7	breast:
22	chr21:17104741..17106433-chr21:17217279..17219157,2	K562	blood:
23	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
24	chr21:16989283..16990838-chr21:17003947..17006454,2	MCF-7	breast:
25	chr20:19188556..19189161-chr21:17092468..17093033,2	MCF-7	breast:
26	chr21:17025826..17028005-chr21:17208818..17210629,2	MCF-7	breast:
27	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:
28	chr21:17102096..17103087-chrX:134185661..134186938,3	Hela-S3	cervix:
29	chr21:17097568..17099854-chr21:17101138..17103471,3	K562	blood:
30	chr21:17086804..17089683-chr21:17199530..17202336,2	K562	blood:
31	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
32	chr21:17103338..17105005-chr21:17169990..17172780,3	K562	blood:
33	chr21:17102017..17104012-chr21:17109243..17111259,3	MCF-7	breast:
34	chr21:16959176..16959732-chr21:17011225..17011757,2	MCF-7	breast:
35	chr21:17015627..17017680-chr21:17022587..17025053,2	K562	blood:
36	chr11:70260809..70263032-chr21:16985944..16988689,2	MCF-7	breast:
37	chr21:17104010..17105531-chr21:17155055..17156862,2	K562	blood:
38	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
39	chr21:17102502..17103070-chr9:128003344..128004042,2	Hela-S3	cervix:
40	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:
41	chr21:17087356..17090819-chr21:17092657..17096162,4	K562	blood:
42	chr21:17088463..17090416-chr21:17100632..17102945,2	MCF-7	breast:
43	chr1:144533860..144534669-chr21:17102967..17103936,2	Hela-S3	cervix:
44	chr2:232478261..232479144-chr21:17101783..17102307,2	Hela-S3	cervix:
45	chr21:17094914..17097120-chr21:17102062..17104681,2	K562	blood:
46	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
47	chr21:17099652..17105374-chr21:17196149..17200245,6	MCF-7	breast:
48	chr21:17104089..17106756-chr21:17109896..17112248,2	MCF-7	breast:
49	chr1:28907941..28908781-chr21:17101990..17102822,2	Hela-S3	cervix:
50	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-9	chr21:17109812-17109878	NONHSAT081208
2	lnc-NRIP1-8	chr21:17066619-17067073	NONHSAT081210
3	lnc-NRIP1-8	chr21:17068204-17068900	NONHSAT081210
4	lnc-NRIP1-9	chr21:17049870-17049987	NONHSAT081208
5	lnc-NRIP1-9	chr21:17048709-17048960	NONHSAT081208
6	lnc-NRIP1-7	chr21:16999365-16999459	NONHSAT081206

No data

Variant related genes	Relation type
USP25	TF binding region
ENSG00000221497	TF binding region
RNU6-1326P	TF binding region
ENSG00000238591	TF binding region
RAD23BLP	TF binding region
USP25	CpG island
ENSG00000221497	CpG island
RNU6-1326P	CpG island
ENSG00000238591	CpG island
RAD23BLP	CpG island
ENSG00000221497	chromatin interactions
ENSG00000234159	chromatin interactions
ENSG00000238591	chromatin interactions
ENSG00000085733	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000155313	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000203950	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000212564	chromatin interactions
ENSG00000265264	chromatin interactions

Extended variants
information (count: 5846 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5846 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs914117	chr21:16960590-16960591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13046380	chr21:16960593-16960594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115814317	chr21:16960594-16960595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9982739	chr21:16960600-16960601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191320037	chr21:16960632-16960633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531531994	chr21:16960641-16960642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550836478	chr21:16960644-16960645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570909385	chr21:16960700-16960701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543023131	chr21:16960702-16960703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115170005	chr21:16960722-16960723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77037611	chr21:16960729-16960730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371921725	chr21:16960737-16960738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566837993	chr21:16960770-16960771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535708547	chr21:16960810-16960811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73343609	chr21:16960851-16960852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149224098	chr21:16960854-16960855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544388870	chr21:16960881-16960882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375014715	chr21:16960890-16960891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182907252	chr21:16960898-16960899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539865380	chr21:16960928-16960929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9983114	chr21:16960929-16960930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187123536	chr21:16960954-16960955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542990757	chr21:16960986-16960987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140826774	chr21:16961015-16961016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202001047	chr21:16961016-16961017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56085337	chr21:16961023-16961024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9983142	chr21:16961024-16961025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190600356	chr21:16961029-16961030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143219261	chr21:16961034-16961035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116743046	chr21:16961035-16961036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183557908	chr21:16961046-16961047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533429505	chr21:16961149-16961150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546685703	chr21:16961161-16961162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148301013	chr21:16961165-16961166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55928270	chr21:16961168-16961169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140565399	chr21:16961169-16961170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569189454	chr21:16961184-16961185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538080921	chr21:16961286-16961287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187705052	chr21:16961288-16961289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189889306	chr21:16961300-16961301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533838262	chr21:16961312-16961313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553584103	chr21:16961314-16961315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573721420	chr21:16961318-16961319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56119165	chr21:16961320-16961321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575370222	chr21:16961333-16961334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562798973	chr21:16961415-16961416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544193207	chr21:16961418-16961419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182665700	chr21:16961424-16961425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544889627	chr21:16961435-16961436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2242850	chr21:16961441-16961442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1479 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16958200-16960800	Enhancers	Fetal Intestine Small	intestine
2	chr21:16958200-16961000	Enhancers	Fetal Intestine Large	intestine
3	chr21:16960000-16961000	Weak transcription	Placenta	Placenta
4	chr21:16960600-16961400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:16961000-16961200	Enhancers	Placenta	Placenta
6	chr21:16961000-16963400	Weak transcription	Fetal Intestine Large	intestine
7	chr21:16961600-16961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:16961600-16961800	Enhancers	Colon Smooth Muscle	Colon
9	chr21:16963400-16964600	Enhancers	Fetal Intestine Large	intestine
10	chr21:16963600-16964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:16964800-16965600	Enhancers	A549	lung
12	chr21:16973200-16976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:16975800-16977800	Enhancers	Fetal Heart	heart
14	chr21:16976200-16977000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr21:16976200-16977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:16976200-16977000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr21:16976200-16977000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:16976200-16977200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:16976200-16977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr21:16976200-16977400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr21:16976200-16977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr21:16976200-16977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:16976200-16977800	Enhancers	Fetal Muscle Leg	muscle
24	chr21:16976200-16977800	Enhancers	Placenta	Placenta
25	chr21:16976200-16977800	Enhancers	HSMM	muscle
26	chr21:16976200-16977800	Enhancers	HSMMtube	muscle
27	chr21:16976200-16978000	Enhancers	Hela-S3	cervix
28	chr21:16976400-16976800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr21:16976400-16977000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:16976400-16977000	Enhancers	HUVEC	blood vessel
31	chr21:16976400-16977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:16976400-16977400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:16976400-16977800	Enhancers	HMEC	breast
34	chr21:16976600-16976800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:16976600-16977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr21:16976600-16977400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:16976800-16977400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:16976800-16977600	Enhancers	NHEK	skin
39	chr21:16977000-16977400	Enhancers	A549	lung
40	chr21:16977000-16977800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr21:16977600-16990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:16977800-16979600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:16979600-16979800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr21:16985800-16986000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr21:16987600-16987800	Enhancers	HSMMtube	muscle
46	chr21:16989000-16991200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:16989200-16989600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:16989200-16990600	Enhancers	Osteobl	bone
49	chr21:16989200-16991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:16989200-16991200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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