Variant report

Variant	nsv587964
Chromosome Location	chr21:47599913-47603902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:488)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:47600273-47600541	K562	blood:	n/a	n/a
2	BHLHE40	chr21:47603113-47603416	K562	blood:	n/a	n/a
3	BHLHE40	chr21:47599878-47600783	K562	blood:	n/a	chr21:47600024-47600040
4	BHLHE40	chr21:47602670-47602874	K562	blood:	n/a	n/a
5	BHLHE40	chr21:47603834-47605107	K562	blood:	n/a	n/a
6	CBX3	chr21:47603261-47605256	K562	blood:	n/a	n/a
7	CCNT2	chr21:47601111-47601719	K562	blood:	n/a	chr21:47601532-47601541
8	CCNT2	chr21:47602103-47602303	K562	blood:	n/a	n/a
9	CCNT2	chr21:47599662-47600295	K562	blood:	n/a	n/a
10	CCNT2	chr21:47602516-47603574	K562	blood:	n/a	n/a
11	CCNT2	chr21:47603783-47605058	K562	blood:	n/a	n/a
12	CEBPB	chr21:47603263-47603964	K562	blood:	n/a	n/a
13	CEBPD	chr21:47603229-47604112	K562	blood:	n/a	n/a
14	CHD2	chr21:47600498-47600573	K562	blood:	n/a	n/a
15	CHD2	chr21:47602210-47602336	K562	blood:	n/a	n/a
16	CTCF	chr21:47602387-47602802	K562	blood:	n/a	n/a
17	CTCF	chr21:47603185-47603333	K562	blood:	n/a	chr21:47603201-47603214
18	CTCF	chr21:47602447-47602803	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr21:47602413-47602773	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr21:47603670-47603684	GM10248	blood:	n/a	n/a
21	CTCF	chr21:47602470-47602826	K562	blood:	n/a	n/a
22	CTCF	chr21:47602520-47602670	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr21:47602610-47602670	K562	blood:	n/a	n/a
24	CTCF	chr21:47602580-47602666	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr21:47602491-47602813	K562	blood:	n/a	n/a
26	CTCF	chr21:47603580-47603665	GM10248	blood:	n/a	n/a
27	CTCF	chr21:47602315-47602837	K562	blood:	n/a	n/a
28	CTCF	chr21:47602560-47602710	K562	blood:	n/a	n/a
29	CTCFL	chr21:47602540-47602767	K562	blood:	n/a	n/a
30	CTCFL	chr21:47602553-47602755	K562	blood:	n/a	n/a
31	E2F6	chr21:47602509-47602788	K562	blood:	n/a	n/a
32	E2F6	chr21:47603807-47605118	K562	blood:	n/a	n/a
33	EBF1	chr21:47603427-47603861	GM12878	blood:	n/a	n/a
34	EGR1	chr21:47603176-47603587	K562	blood:	n/a	n/a
35	EGR1	chr21:47603769-47604285	K562	blood:	n/a	n/a
36	EGR1	chr21:47599858-47600167	K562	blood:	n/a	chr21:47600012-47600021
37	EGR1	chr21:47603781-47604213	K562	blood:	n/a	n/a
38	EGR1	chr21:47603099-47603599	K562	blood:	n/a	chr21:47603156-47603180
39	EP300	chr21:47603795-47604332	K562	blood:	n/a	chr21:47603999-47604012
40	EP300	chr21:47603146-47603581	K562	blood:	n/a	n/a
41	EP300	chr21:47599955-47600515	K562	blood:	n/a	chr21:47600032-47600041
42	GABPA	chr21:47603876-47605149	K562	blood:	n/a	n/a
43	GABPA	chr21:47603074-47603630	K562	blood:	n/a	n/a
44	GATA1	chr21:47599973-47600327	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
45	GATA2	chr21:47603217-47603972	K562	blood:	n/a	n/a
46	GATA2	chr21:47599905-47600260	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
47	GATA2	chr21:47599690-47600373	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
48	GTF2F1	chr21:47603238-47603276	K562	blood:	n/a	n/a
49	HCFC1	chr21:47599976-47600292	K562	blood:	n/a	n/a
50	HCFC1	chr21:47603837-47605091	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47601150-47601200	HRCEpiC	kidney:	n/a
2	chr21:47602702-47602752	RPTEC	kidney:	n/a
3	chr21:47602702-47602752	HNPCEpiC	eye:	n/a
4	chr21:47601211-47601261	NH-A	brain:	n/a
5	chr21:47601211-47601261	AG04449	skin:	fetal
6	chr21:47602148-47602198	HRE	kidney:	n/a
7	chr21:47601047-47601097	CMK	blood:	n/a
8	chr21:47601211-47601261	PANC-1	pancreas:	n/a
9	chr21:47599972-47600022	AG04450	lung:	fetal
10	chr21:47601047-47601097	T-47D	breast:	n/a
11	chr21:47601047-47601097	HNPCEpiC	eye:	n/a
12	chr21:47602486-47602536	BE2_C	brain:	n/a
13	chr21:47601211-47601261	NT2-D1	testis:	n/a
14	chr21:47601211-47601261	U87	brain:	n/a
15	chr21:47601047-47601097	AG09309	skin:	n/a
16	chr21:47601211-47601261	HIPEpiC	eye:	n/a
17	chr21:47601211-47601261	HEK293	kidney:	embryo
18	chr21:47599972-47600022	HCM	heart:	n/a
19	chr21:47602702-47602752	HCPEpiC	choroid plexus:	n/a
20	chr21:47602702-47602752	MCF-7	breast:	n/a
21	chr21:47602432-47602482	Hepatocyte	liver:	n/a
22	chr21:47599972-47600022	MCF10A-Er-Src	breast:	n/a
23	chr21:47602486-47602536	HL-60	blood:	n/a
24	chr21:47602432-47602482	HPAEpiC	pulmonary alveolar:	n/a
25	chr21:47601211-47601261	NHDF-neo	bronchial:	n/a
26	chr21:47601150-47601200	ECC-1	luminal epithelium:	n/a
27	chr21:47602148-47602198	NB4	blood:	n/a
28	chr21:47602432-47602482	GM06990	blood:	n/a
29	chr21:47602702-47602752	GM12892	blood:	n/a
30	chr21:47601047-47601097	PrEC	prostate:	n/a
31	chr21:47601150-47601200	HCT-116	colon:	n/a
32	chr21:47601211-47601261	SK-N-SH	brain:	n/a
33	chr21:47602432-47602482	SAEC	small airway:	n/a
34	chr21:47601150-47601200	H1-hESC	embryonic stem cell:	embryo
35	chr21:47602148-47602198	ECC-1	luminal epithelium:	n/a
36	chr21:47601211-47601261	IMR90	lung:	fetal
37	chr21:47601150-47601200	T-47D	breast:	n/a
38	chr21:47601047-47601097	AG09319	gingival:	n/a
39	chr21:47602486-47602536	SK-N-MC	brain:	n/a
40	chr21:47599972-47600022	NB4	blood:	n/a
41	chr21:47602148-47602198	CMK	blood:	n/a
42	chr21:47602702-47602752	MCF10A-Er-Src	breast:	n/a
43	chr21:47602148-47602198	ProgFib	skin:	n/a
44	chr21:47599972-47600022	ECC-1	luminal epithelium:	n/a
45	chr21:47602148-47602198	AG04450	lung:	fetal
46	chr21:47601150-47601200	NT2-D1	testis:	n/a
47	chr21:47602148-47602198	HCM	heart:	n/a
48	chr21:47602486-47602536	CMK	blood:	n/a
49	chr21:47601211-47601261	A549	lung:	n/a
50	chr21:47601211-47601261	SAEC	small airway:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47600488..47602703-chr21:47632844..47634921,2	K562	blood:
2	chr21:47571733..47573390-chr21:47601169..47604058,2	K562	blood:
3	chr21:47598526..47600624-chr21:47604926..47607198,2	K562	blood:
4	chr21:47563716..47566123-chr21:47602803..47604796,2	K562	blood:
5	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
6	chr21:47588823..47590462-chr21:47601081..47603080,2	MCF-7	breast:
7	chr21:47584368..47587107-chr21:47598667..47601448,3	MCF-7	breast:
8	chr21:47568990..47571521-chr21:47602008..47603891,2	K562	blood:
9	chr21:47599317..47602217-chr21:47649153..47650672,2	K562	blood:
10	chr21:47602500..47604164-chr21:47614586..47616622,2	K562	blood:
11	chr21:47600278..47602930-chr21:47743867..47746831,2	K562	blood:
12	chr21:47591887..47593806-chr21:47599783..47602845,3	K562	blood:
13	chr21:47563633..47565565-chr21:47603562..47606281,2	K562	blood:
14	chr21:47573796..47576021-chr21:47598325..47600385,2	K562	blood:
15	chr21:47599873..47602213-chr21:47649234..47651649,2	K562	blood:
16	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
17	chr21:47572549..47576001-chr21:47599228..47602499,3	MCF-7	breast:
18	chr21:47594311..47596914-chr21:47599495..47600996,2	K562	blood:
19	chr21:47603167..47605215-chr21:47743246..47745709,3	K562	blood:
20	chr21:47602847..47606841-chr21:47742668..47745795,6	K562	blood:
21	chr21:47600262..47602297-chr21:47602464..47604765,2	K562	blood:
22	chr21:47602452..47604357-chr21:47877079..47880272,3	K562	blood:
23	chr21:47598086..47600168-chr21:47602807..47604710,2	K562	blood:
24	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
25	chr21:47601203..47604335-chr21:47632751..47634921,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228404	TF binding region
ENSG00000228404	CpG island
ENSG00000160305	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160298	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8133082	chr21:47599913-47599914	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143135846	chr21:47599992-47599993	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560914404	chr21:47600085-47600086	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs531207135	chr21:47600087-47600088	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs147328861	chr21:47600107-47600108	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73144732	chr21:47600145-47600146	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs8134429	chr21:47600157-47600158	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs8133482	chr21:47600192-47600193	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551467804	chr21:47600201-47600202	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190833918	chr21:47600205-47600206	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs537549431	chr21:47600209-47600210	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs140977116	chr21:47600210-47600211	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567636519	chr21:47600229-47600230	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540513721	chr21:47600256-47600257	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374831921	chr21:47600288-47600289	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs369062119	chr21:47600311-47600312	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs553603271	chr21:47600320-47600321	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs182628625	chr21:47600327-47600328	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs545580710	chr21:47600354-47600355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs557581397	chr21:47600355-47600356	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs62215183	chr21:47600374-47600375	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs112053584	chr21:47600544-47600545	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs542701251	chr21:47600600-47600601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs560733967	chr21:47600633-47600634	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs62215184	chr21:47600666-47600667	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs115793049	chr21:47600686-47600687	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs544641324	chr21:47600722-47600723	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs144888480	chr21:47600731-47600732	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs532259590	chr21:47600733-47600734	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs34810896	chr21:47600783-47600784	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs148647112	chr21:47600847-47600848	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs562340919	chr21:47600854-47600855	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs9975914	chr21:47600865-47600866	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs549415600	chr21:47600867-47600868	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs142103890	chr21:47600868-47600869	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375939018	chr21:47600875-47600876	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs9979331	chr21:47600923-47600924	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs547331372	chr21:47600932-47600933	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs572002153	chr21:47600939-47600940	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs79589812	chr21:47601002-47601003	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs151162291	chr21:47601013-47601014	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs62215185	chr21:47601022-47601023	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs535970129	chr21:47601028-47601029	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs377531026	chr21:47601036-47601037	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs539680563	chr21:47601048-47601049	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs572767537	chr21:47601058-47601059	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs140349121	chr21:47601062-47601063	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs62215186	chr21:47601064-47601065	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs576773930	chr21:47601120-47601121	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs544091768	chr21:47601137-47601138	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47573600-47600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr21:47573600-47602000	Weak transcription	Gastric	stomach
3	chr21:47573800-47602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:47573800-47603800	Weak transcription	Right Atrium	heart
5	chr21:47581400-47602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:47581600-47600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr21:47581600-47600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:47582000-47602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:47582000-47602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:47582000-47602800	Weak transcription	Ovary	ovary
11	chr21:47582400-47600200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:47582400-47603800	Weak transcription	Thymus	Thymus
13	chr21:47583000-47602800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:47588600-47602800	Weak transcription	Lung	lung
15	chr21:47589000-47600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:47591400-47600000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr21:47594200-47603800	Weak transcription	Fetal Intestine Small	intestine
18	chr21:47595400-47600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:47596800-47600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:47596800-47603000	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:47597200-47602800	Weak transcription	Right Ventricle	heart
22	chr21:47597200-47603800	Weak transcription	Fetal Brain Female	brain
23	chr21:47598000-47600200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:47598000-47602800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:47598000-47603000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:47598000-47603400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:47598600-47603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:47599200-47602800	Weak transcription	Pancreas	Pancrea
29	chr21:47599400-47600600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:47599400-47600800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:47599600-47600600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:47599600-47601400	Strong transcription	Fetal Muscle Leg	muscle
33	chr21:47599600-47601600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr21:47599600-47602800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47599600-47603000	Strong transcription	Fetal Stomach	stomach
36	chr21:47599800-47600000	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr21:47599800-47600200	Flanking Active TSS	HepG2	liver
38	chr21:47599800-47600400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:47599800-47600800	Transcr. at gene 5' and 3'	K562	blood
40	chr21:47599800-47601400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:47599800-47601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:47600000-47600600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr21:47600000-47600800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells	blood
45	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:47600000-47601200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr21:47600000-47601600	Bivalent Enhancer	Placenta	Placenta
49	chr21:47600200-47600400	Enhancers	HepG2	liver
50	chr21:47600200-47600600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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