Variant report

Variant	nsv544413
Chromosome Location	chr21:27942060-28065995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:490)
Chromatin interactive
region (count:10)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:27960314-27960491	HepG2	liver:	n/a	n/a
2	ATF3	chr21:28058653-28058983	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr21:28058671-28058914	GM12878	blood:	n/a	n/a
4	BACH1	chr21:27972287-27972381	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr21:27945392-27945619	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr21:28020016-28020277	K562	blood:	n/a	chr21:28020171-28020182
7	CEBPB	chr21:28013414-28013735	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr21:27960271-27960614	IMR90	lung:	n/a	n/a
9	CEBPB	chr21:28020037-28020334	IMR90	lung:	n/a	chr21:28020171-28020182
10	CEBPB	chr21:28030684-28030788	H1-hESC	embryonic stem cell:	n/a	chr21:28030696-28030707 chr21:28030696-28030709 chr21:28030697-28030708 chr21:28030696-28030709 chr21:28030696-28030707
11	CEBPB	chr21:28030606-28030840	A549	lung:	n/a	chr21:28030696-28030707 chr21:28030696-28030709 chr21:28030697-28030708 chr21:28030696-28030709 chr21:28030696-28030707
12	CEBPB	chr21:27960244-27960648	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr21:28030533-28030830	HepG2	liver:	n/a	chr21:28030696-28030707 chr21:28030696-28030709 chr21:28030697-28030708 chr21:28030696-28030709 chr21:28030696-28030707
14	CEBPB	chr21:27986800-27986811	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr21:27960169-27960730	A549	lung:	n/a	n/a
16	CEBPB	chr21:28020163-28020183	Hela-S3	cervix:	n/a	chr21:28020171-28020182
17	CEBPB	chr21:28019994-28020339	HepG2	liver:	n/a	chr21:28020171-28020182
18	CEBPB	chr21:27986777-27986817	IMR90	lung:	n/a	n/a
19	CEBPB	chr21:27974549-27974568	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr21:27960165-27960710	MCF-7	breast:	n/a	n/a
21	CEBPB	chr21:27960287-27960606	A549	lung:	n/a	n/a
22	CEBPB	chr21:27960285-27960620	A549	lung:	n/a	n/a
23	CEBPB	chr21:27960306-27960613	HepG2	liver:	n/a	n/a
24	CEBPB	chr21:28063731-28063919	A549	lung:	n/a	chr21:28063822-28063833 chr21:28063820-28063833
25	CEBPB	chr21:28030521-28030850	IMR90	lung:	n/a	chr21:28030696-28030707 chr21:28030696-28030709 chr21:28030697-28030708 chr21:28030696-28030709 chr21:28030696-28030707
26	CEBPB	chr21:27960197-27960675	MCF-7	breast:	n/a	n/a
27	CHD1	chr21:27945739-27945940	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr21:27944562-27945471	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr21:28058670-28058900	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr21:27945088-27945324	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr21:28058649-28058937	GM12878	blood:	n/a	n/a
32	CREB1	chr21:28058706-28058889	A549	lung:	n/a	n/a
33	CREB1	chr21:28058569-28058934	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr21:27944930-27945701	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr21:27952467-27952569	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr21:28058754-28058820	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr21:27968460-27968610	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr21:27945021-27945078	Lung_OC	lung:	n/a	n/a
39	CTCF	chr21:28045894-28045943	GM13977	blood:	n/a	n/a
40	CTCF	chr21:28000180-28000330	BE2_C	brain:	n/a	n/a
41	CTCF	chr21:27987776-27987812	Fibrobl	skin:	n/a	n/a
42	CTCF	chr21:27941960-27942110	HPF	lung:	n/a	n/a
43	CTCF	chr21:28037979-28037997	GM10248	blood:	n/a	n/a
44	CTCF	chr21:28039985-28040094	GM20000	blood:	n/a	n/a
45	E2F4	chr21:28006941-28007003	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr21:28049153-28049618	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr21:27960313-27960513	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr21:27949305-27949707	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F6	chr21:27944761-27945333	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr21:27966125-27966413	SK-N-SH_RA	brain:	n/a	chr21:27966155-27966163

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:27943730-27943780	AG04450	lung:	fetal
2	chr21:27943730-27943780	Hepatocyte	liver:	n/a
3	chr21:27943730-27943780	AG04450	lung:	fetal
4	chr21:27943730-27943780	Hepatocyte	liver:	n/a
5	chr21:27945708-27945758	Caco-2	colon:	n/a
6	chr21:27945708-27945758	Jurkat	blood:	n/a
7	chr21:27942803-27942853	AG09309	skin:	n/a
8	chr21:27945125-27945175	NH-A	brain:	n/a
9	chr21:27945708-27945758	K562	blood:	n/a
10	chr21:27945413-27945463	AG04450	lung:	fetal
11	chr21:27942803-27942853	GM12878	blood:	n/a
12	chr21:27944586-27944636	AG10803	skin:	n/a
13	chr21:27943730-27943780	AoSMC	blood vessel:	n/a
14	chr21:27944779-27944829	HNPCEpiC	eye:	n/a
15	chr21:27944779-27944829	MCF10A-Er-Src	breast:	n/a
16	chr21:27943730-27943780	AG10803	skin:	n/a
17	chr21:27942803-27942853	AG09319	gingival:	n/a
18	chr21:27943730-27943780	GM12878	blood:	n/a
19	chr21:27945708-27945758	HAEpiC	amniotic membrane:	n/a
20	chr21:27943730-27943780	HIPEpiC	eye:	n/a
21	chr21:27945841-27945891	MCF10A-Er-Src	breast:	n/a
22	chr21:27942803-27942853	HL-60	blood:	n/a
23	chr21:27945125-27945175	ovcar-3	ovarian:	n/a
24	chr21:27945413-27945463	GM12892	blood:	n/a
25	chr21:27945708-27945758	NB4	blood:	n/a
26	chr21:27945841-27945891	A549	lung:	n/a
27	chr21:27944586-27944636	HCPEpiC	choroid plexus:	n/a
28	chr21:27945708-27945758	AG04450	lung:	fetal
29	chr21:27945841-27945891	PFSK-1	brain:	n/a
30	chr21:27945125-27945175	AG10803	skin:	n/a
31	chr21:27943730-27943780	GM19239	blood:	n/a
32	chr21:27944586-27944636	Hela-S3	cervix:	n/a
33	chr21:27944586-27944636	U87	brain:	n/a
34	chr21:27944586-27944636	SK-N-SH	brain:	n/a
35	chr21:27944586-27944636	AG09309	skin:	n/a
36	chr21:27945841-27945891	RPTEC	kidney:	n/a
37	chr21:27944779-27944829	Hepatocyte	liver:	n/a
38	chr21:27944779-27944829	SKMC	muscle:	n/a
39	chr21:27945413-27945463	HCF	heart:	n/a
40	chr21:27944586-27944636	Hepatocyte	liver:	n/a
41	chr21:27945125-27945175	K562	blood:	n/a
42	chr21:27942803-27942853	AoSMC	blood vessel:	n/a
43	chr21:27945125-27945175	MCF-7	breast:	n/a
44	chr21:27945413-27945463	BE2_C	brain:	n/a
45	chr21:27945708-27945758	RPTEC	kidney:	n/a
46	chr21:27944586-27944636	HCT-116	colon:	n/a
47	chr21:27942803-27942853	MCF-7	breast:	n/a
48	chr21:27945125-27945175	H1-hESC	embryonic stem cell:	embryo
49	chr21:27945708-27945758	HCT-116	colon:	n/a
50	chr21:27944779-27944829	HRE	kidney:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:27970480..27973262-chr21:27977423..27980382,2	K562	blood:
2	chr21:27986598..27988150-chr21:27989424..27991513,2	MCF-7	breast:
3	chr21:27779928..27782200-chr21:27946356..27948507,2	MCF-7	breast:
4	chr21:27986598..27988150-chr21:27989424..27991513,2	MCF-7	breast:
5	chr21:27970480..27973262-chr21:27977423..27980382,2	K562	blood:
6	chr21:28022472..28024040-chr21:28031555..28033867,2	K562	blood:
7	chr21:28022472..28024040-chr21:28031555..28033867,2	K562	blood:
8	chr21:28050740..28052363-chr21:28055008..28057868,2	K562	blood:
9	chr21:27943628..27945913-chr21:27947174..27949619,2	K562	blood:
10	chr21:28050740..28052363-chr21:28055008..28057868,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-17	chr21:28045262-28045429	l_2184_NR_024357
2	lnc-GABPA-17	chr21:28045262-28045423	NONHSAT081548
3	lnc-GABPA-17	chr21:28040008-28040226	NONHSAT081547
4	lnc-GABPA-17	chr21:28037583-28037694	NONHSAT081547
5	lnc-GABPA-16	chr21:27947546-27947681	NONHSAT081546
6	lnc-GABPA-16	chr21:27942855-27942955	NONHSAT081546
7	lnc-GABPA-17	chr21:28018989-28019071	NONHSAT081548
8	lnc-GABPA-17	chr21:28016588-28016603	NONHSAT081547
9	lnc-GABPA-17	chr21:28040008-28040222	NONHSAT081548
10	lnc-GABPA-16	chr21:27966180-27966389	l_2183_chr21:27932851-27966389_testes
11	lnc-GABPA-16	chr21:27942855-27942955	l_2183_chr21:27932851-27966389_testes
12	lnc-GABPA-16	chr21:27963667-27963720	l_2183_chr21:27932851-27966389_testes
13	lnc-GABPA-17	chr21:28040482-28040784	l_2184_NR_024357
14	lnc-GABPA-17	chr21:28016569-28016603	l_2184_NR_024357
15	lnc-GABPA-17	chr21:28040008-28040222	l_2184_NR_024357
16	lnc-GABPA-17	chr21:28037583-28037694	l_2184_NR_024357
17	lnc-GABPA-17	chr21:28037583-28037694	NONHSAT081548
18	lnc-GABPA-17	chr21:28045262-28045423	NONHSAT081547

No data

Variant related genes	Relation type
CYYR1	TF binding region
CYYR1	CpG island
ENSG00000166265	chromatin interactions

Extended variants
information (count: 2359 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2359 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144068729	chr21:27942070-27942071	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117393705	chr21:27942092-27942093	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111835126	chr21:27942141-27942142	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7277524	chr21:27942187-27942188	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564825277	chr21:27942210-27942211	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530520207	chr21:27942211-27942212	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550638432	chr21:27942296-27942297	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73180830	chr21:27942304-27942305	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377316187	chr21:27942412-27942413	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546748312	chr21:27942418-27942419	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9989934	chr21:27942529-27942530	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538506201	chr21:27942533-27942534	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558431721	chr21:27942598-27942599	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575192452	chr21:27942608-27942609	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537038388	chr21:27942616-27942617	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148689991	chr21:27942619-27942620	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574056357	chr21:27942653-27942654	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76763393	chr21:27942667-27942668	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559861340	chr21:27942683-27942684	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35604128	chr21:27942705-27942706	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545666937	chr21:27942782-27942783	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565570764	chr21:27942789-27942790	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531268479	chr21:27942803-27942804	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577487256	chr21:27942822-27942823	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560744513	chr21:27942864-27942865	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs8128689	chr21:27942873-27942874	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567268260	chr21:27942891-27942892	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546389220	chr21:27942899-27942900	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs114687183	chr21:27942989-27942990	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538443466	chr21:27943002-27943003	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571597011	chr21:27943037-27943038	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115310170	chr21:27943063-27943064	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534995642	chr21:27943129-27943130	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534205204	chr21:27943134-27943135	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537775764	chr21:27943138-27943139	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575204459	chr21:27943142-27943143	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75337598	chr21:27943175-27943176	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534584233	chr21:27943178-27943179	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542296549	chr21:27943220-27943221	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7282625	chr21:27943226-27943227	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531309673	chr21:27943321-27943322	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536707688	chr21:27943327-27943328	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553816207	chr21:27943386-27943387	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553193185	chr21:27943416-27943417	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs573419603	chr21:27943442-27943443	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs545605161	chr21:27943461-27943462	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs559224957	chr21:27943462-27943463	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs575982895	chr21:27943463-27943464	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs544939492	chr21:27943475-27943476	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs560900325	chr21:27943485-27943486	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:27912600-27942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
5	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:27930200-27942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:27931400-27943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:27931400-27944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr21:27931600-27944400	Weak transcription	Left Ventricle	heart
12	chr21:27933200-27942400	Weak transcription	Right Atrium	heart
13	chr21:27933200-27945000	Weak transcription	Spleen	Spleen
14	chr21:27934000-27944400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:27934200-27943200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:27935200-27944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:27938000-27942200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr21:27938000-27942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr21:27938200-27942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:27938200-27942400	Weak transcription	Fetal Kidney	kidney
21	chr21:27938200-27943200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:27938600-27942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:27938600-27942800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr21:27938800-27942200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:27938800-27942400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:27938800-27942400	Weak transcription	Fetal Lung	lung
27	chr21:27938800-27942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr21:27938800-27943600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:27939000-27942400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:27939200-27942200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr21:27939200-27942600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr21:27939200-27944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:27940800-27943200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:27941800-27942200	Enhancers	HUVEC	blood vessel
35	chr21:27942000-27942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:27942000-27944400	Active TSS	Adipose Nuclei	Adipose
37	chr21:27942200-27942400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr21:27942200-27942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:27942200-27943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr21:27942200-27943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr21:27942200-27944800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr21:27942200-27944800	Flanking Active TSS	HUVEC	blood vessel
43	chr21:27942400-27942600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr21:27942400-27942600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr21:27942400-27942800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr21:27942400-27942800	Flanking Active TSS	Fetal Kidney	kidney
47	chr21:27942400-27942800	Enhancers	Fetal Lung	lung
48	chr21:27942400-27943400	Enhancers	Primary hematopoietic stem cells	blood
49	chr21:27942400-27943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:27942400-27944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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