Variant report

Variant	esv1829806
Chromosome Location	chr21:45152477-45172562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:655)
CpG islands
(count:245)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:45158438-45158813	K562	blood:	n/a	n/a
2	ATF3	chr21:45160710-45160988	A549	lung:	n/a	chr21:45160849-45160862
3	BACH1	chr21:45160396-45161112	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr21:45161393-45161618	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr21:45164297-45164791	GM12878	blood:	n/a	n/a
6	BCL3	chr21:45170416-45171010	GM12878	blood:	n/a	n/a
7	BCL3	chr21:45160274-45161086	A549	lung:	n/a	chr21:45160409-45160418
8	BCL3	chr21:45169866-45170231	GM12878	blood:	n/a	n/a
9	BCL3	chr21:45170294-45171049	GM12878	blood:	n/a	n/a
10	BCL3	chr21:45159769-45160260	A549	lung:	n/a	chr21:45159789-45159802
11	BCL3	chr21:45164262-45164666	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:45158311-45158664	K562	blood:	n/a	n/a
13	BHLHE40	chr21:45158061-45158395	HepG2	liver:	n/a	n/a
14	BHLHE40	chr21:45166168-45166321	K562	blood:	n/a	n/a
15	CBX3	chr21:45159315-45159743	K562	blood:	n/a	n/a
16	CBX3	chr21:45158262-45158880	K562	blood:	n/a	n/a
17	CCNT2	chr21:45156306-45156323	K562	blood:	n/a	n/a
18	CEBPB	chr21:45165698-45165989	K562	blood:	n/a	n/a
19	CEBPB	chr21:45171588-45171771	HepG2	liver:	n/a	n/a
20	CEBPB	chr21:45171621-45171821	A549	lung:	n/a	n/a
21	CEBPB	chr21:45154230-45154505	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr21:45156847-45156939	A549	lung:	n/a	n/a
23	CEBPB	chr21:45165180-45165355	K562	blood:	n/a	n/a
24	CEBPB	chr21:45154174-45154434	A549	lung:	n/a	n/a
25	CEBPB	chr21:45154232-45154434	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr21:45157993-45158303	HepG2	liver:	n/a	n/a
27	CEBPB	chr21:45154180-45154520	IMR90	lung:	n/a	n/a
28	CEBPB	chr21:45152397-45152586	IMR90	lung:	n/a	n/a
29	CEBPB	chr21:45156743-45157038	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:45154095-45154547	MCF-7	breast:	n/a	n/a
31	CEBPB	chr21:45154303-45154423	K562	blood:	n/a	n/a
32	CEBPB	chr21:45154181-45154486	HepG2	liver:	n/a	n/a
33	CEBPB	chr21:45166217-45166362	K562	blood:	n/a	n/a
34	CEBPB	chr21:45156918-45156923	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr21:45152297-45152700	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr21:45156852-45156935	K562	blood:	n/a	n/a
37	CEBPB	chr21:45158312-45158814	K562	blood:	n/a	n/a
38	CEBPD	chr21:45158300-45158858	K562	blood:	n/a	n/a
39	CREB1	chr21:45160649-45161059	A549	lung:	n/a	n/a
40	CREB1	chr21:45160660-45161034	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr21:45170788-45170800	GM19239	blood:	n/a	n/a
42	CTCF	chr21:45158160-45158310	HepG2	liver:	n/a	n/a
43	CTCF	chr21:45169713-45169808	GM19239	blood:	n/a	chr21:45169768-45169781
44	CTCF	chr21:45157100-45157250	GM12878	blood:	n/a	n/a
45	CTCF	chr21:45169728-45169804	GM19238	blood:	n/a	chr21:45169768-45169781
46	CTCF	chr21:45169721-45169781	GM12892	blood:	n/a	chr21:45169768-45169781
47	CTCF	chr21:45157180-45157330	RPTEC	kidney:	n/a	n/a
48	CTCF	chr21:45161360-45161510	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr21:45157260-45157410	A549	lung:	n/a	n/a
50	CTCF	chr21:45158180-45158330	HepG2	liver:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45161359-45161409	HIPEpiC	eye:	n/a
2	chr21:45161359-45161409	HIPEpiC	eye:	n/a
3	chr21:45161359-45161409	U87	brain:	n/a
4	chr21:45161415-45161465	HCPEpiC	choroid plexus:	n/a
5	chr21:45153009-45153059	HIPEpiC	eye:	n/a
6	chr21:45153009-45153059	U87	brain:	n/a
7	chr21:45161415-45161465	ECC-1	luminal epithelium:	n/a
8	chr21:45161415-45161465	GM12892	blood:	n/a
9	chr21:45153009-45153059	HMEC	breast:	n/a
10	chr21:45153009-45153059	CMK	blood:	n/a
11	chr21:45161415-45161465	HMEC	breast:	n/a
12	chr21:45163611-45163661	SK-N-MC	brain:	n/a
13	chr21:45161359-45161409	HEK293	kidney:	embryo
14	chr21:45163611-45163661	Jurkat	blood:	n/a
15	chr21:45153009-45153059	GM06990	blood:	n/a
16	chr21:45161359-45161409	K562	blood:	n/a
17	chr21:45161359-45161409	Hela-S3	cervix:	n/a
18	chr21:45153009-45153059	Caco-2	colon:	n/a
19	chr21:45153009-45153059	LNCaP	prostate:	n/a
20	chr21:45161359-45161409	HL-60	blood:	n/a
21	chr21:45161359-45161409	HNPCEpiC	eye:	n/a
22	chr21:45163611-45163661	BE2_C	brain:	n/a
23	chr21:45153009-45153059	K562	blood:	n/a
24	chr21:45153009-45153059	AG09309	skin:	n/a
25	chr21:45161359-45161409	NHDF-neo	bronchial:	n/a
26	chr21:45161359-45161409	HCF	heart:	n/a
27	chr21:45163611-45163661	AG09309	skin:	n/a
28	chr21:45161415-45161465	HIPEpiC	eye:	n/a
29	chr21:45161415-45161465	HPAEpiC	pulmonary alveolar:	n/a
30	chr21:45163611-45163661	HMEC	breast:	n/a
31	chr21:45161415-45161465	K562	blood:	n/a
32	chr21:45153009-45153059	AG04450	lung:	fetal
33	chr21:45161415-45161465	Hela-S3	cervix:	n/a
34	chr21:45161415-45161465	HepG2	liver:	n/a
35	chr21:45153009-45153059	NB4	blood:	n/a
36	chr21:45163611-45163661	HRCEpiC	kidney:	n/a
37	chr21:45163611-45163661	ProgFib	skin:	n/a
38	chr21:45161415-45161465	NHBE	bronchial:	n/a
39	chr21:45161359-45161409	CMK	blood:	n/a
40	chr21:45153009-45153059	HCM	heart:	n/a
41	chr21:45163611-45163661	NB4	blood:	n/a
42	chr21:45161415-45161465	HAEpiC	amniotic membrane:	n/a
43	chr21:45161359-45161409	GM12878	blood:	n/a
44	chr21:45153009-45153059	ovcar-3	ovarian:	n/a
45	chr21:45163611-45163661	SK-N-SH_RA	brain:	n/a
46	chr21:45161415-45161465	AG04449	skin:	fetal
47	chr21:45163611-45163661	PANC-1	pancreas:	n/a
48	chr21:45161359-45161409	ECC-1	luminal epithelium:	n/a
49	chr21:45153009-45153059	BE2_C	brain:	n/a
50	chr21:45153009-45153059	NHDF-neo	bronchial:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45162810..45165195-chr21:45176926..45179048,2	K562	blood:
2	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
3	chr21:44935059..44936997-chr21:45153609..45155904,2	MCF-7	breast:
4	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
5	chr21:45164290..45167394-chr21:45171722..45175273,3	K562	blood:
6	chr21:45156965..45158670-chr21:45174699..45176799,2	K562	blood:
7	chr21:45156014..45158647-chr21:45159074..45160757,2	K562	blood:
8	chr21:45152139..45155102-chr21:45167592..45169327,2	K562	blood:
9	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
10	chr21:45165363..45167088-chr21:45194223..45196266,2	MCF-7	breast:
11	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:
12	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
13	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
14	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
15	chr21:45138760..45141316-chr21:45163664..45165255,2	K562	blood:
16	chr21:45156014..45158637-chr21:45159074..45161792,2	K562	blood:
17	chr21:45165298..45166880-chr21:45168417..45169952,2	MCF-7	breast:
18	chr21:45156182..45158069-chr21:45230385..45232004,2	K562	blood:
19	chr21:45163023..45165790-chr21:45170856..45174314,3	K562	blood:
20	chr21:45164290..45167394-chr21:45171722..45175273,3	K562	blood:
21	chr21:33103919..33104588-chr21:45170107..45170783,2	Hela-S3	cervix:
22	chr21:45164921..45166877-chr21:45166997..45169477,2	K562	blood:
23	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
24	chr21:45162810..45165204-chr21:45175505..45178426,2	K562	blood:
25	chr21:45168554..45170321-chr21:45172450..45175239,2	MCF-7	breast:
26	chr21:45163023..45165790-chr21:45170856..45174314,3	K562	blood:
27	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
28	chr21:45165588..45167444-chr21:45177367..45179445,2	MCF-7	breast:
29	chr21:45154933..45157513-chr21:45174243..45177077,2	MCF-7	breast:
30	chr21:45154001..45156611-chr21:45177637..45180387,2	K562	blood:
31	chr21:45166127..45168190-chr21:45198985..45201869,2	K562	blood:
32	chr21:45165894..45167884-chr21:45171722..45174273,2	K562	blood:
33	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
34	chr21:45161547..45167086-chr21:45167365..45170424,6	MCF-7	breast:
35	chr21:45153763..45156767-chr21:45158365..45161211,5	MCF-7	breast:
36	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
37	chr21:45154618..45156575-chr21:45170589..45173066,2	K562	blood:
38	chr21:45158524..45162841-chr21:45165683..45171048,8	K562	blood:
39	chr21:45154618..45156575-chr21:45170589..45173066,2	K562	blood:
40	chr21:45170139..45171974-chr21:45180747..45184494,3	K562	blood:
41	chr21:45167914..45170036-chr21:45175029..45177838,2	K562	blood:
42	chr21:45156014..45158647-chr21:45159074..45160757,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDXK	hsa-miR-193b-3p	chr21:45157285-45157305

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160208	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 1083 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375810786	chr21:45152497-45152498	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs561093748	chr21:45152499-45152500	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs2276528	chr21:45152500-45152501	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs547269371	chr21:45152512-45152513	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs565489332	chr21:45152527-45152528	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs374072690	chr21:45152528-45152529	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs201305288	chr21:45152532-45152533	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368013253	chr21:45152577-45152578	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs532743684	chr21:45152578-45152579	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs551528498	chr21:45152588-45152589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs540024871	chr21:45152664-45152665	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs569716639	chr21:45152665-45152666	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs186423226	chr21:45152681-45152682	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs373277362	chr21:45152689-45152690	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs567103438	chr21:45152695-45152696	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs189624556	chr21:45152696-45152697	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs552836467	chr21:45152752-45152753	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs577459647	chr21:45152788-45152789	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs538427061	chr21:45152830-45152831	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs557070639	chr21:45152848-45152849	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs575711256	chr21:45152875-45152876	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs9975611	chr21:45152880-45152881	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371004075	chr21:45152881-45152882	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs561338618	chr21:45152929-45152930	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs71197852	chr21:45152937-45152938	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs576823177	chr21:45152982-45152983	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs573116429	chr21:45153048-45153049	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs2276529	chr21:45153079-45153080	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565574837	chr21:45153113-45153114	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528636330	chr21:45153129-45153130	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs200569809	chr21:45153134-45153135	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs59228640	chr21:45153139-45153140	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs58389906	chr21:45153145-45153146	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs536116340	chr21:45153146-45153147	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs544323164	chr21:45153173-45153174	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs551211971	chr21:45153268-45153269	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs562911321	chr21:45153287-45153288	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs377686896	chr21:45153295-45153296	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs564173247	chr21:45153300-45153301	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs530632482	chr21:45153305-45153306	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs371220695	chr21:45153320-45153321	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs76139610	chr21:45153330-45153331	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs140036439	chr21:45153361-45153362	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs546515121	chr21:45153370-45153371	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs180812090	chr21:45153371-45153372	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs538514236	chr21:45153388-45153389	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs557143704	chr21:45153458-45153459	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs144016641	chr21:45153487-45153488	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs568914702	chr21:45153488-45153489	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs117938655	chr21:45153489-45153490	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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 lymphoblastic leukemia	20435627	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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45148800-45153400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:45149200-45152600	Strong transcription	Hela-S3	cervix
5	chr21:45149200-45153200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr21:45149400-45153000	Weak transcription	Primary T cells from cord blood	blood
7	chr21:45149400-45153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:45149400-45153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:45149400-45157600	Weak transcription	Aorta	Aorta
10	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:45149600-45152600	Genic enhancers	A549	lung
12	chr21:45149600-45153200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:45149600-45153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:45149600-45153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:45149600-45153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:45149600-45153200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:45149600-45153200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr21:45149600-45153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr21:45149600-45153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:45149600-45153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr21:45149600-45153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr21:45149600-45154800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:45149600-45157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr21:45149600-45159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
29	chr21:45149800-45153200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45149800-45157200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr21:45149800-45160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
34	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
35	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr21:45150000-45152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:45150000-45153200	Weak transcription	Colon Smooth Muscle	Colon
38	chr21:45150000-45153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45150000-45153400	Weak transcription	Fetal Lung	lung
40	chr21:45150000-45153400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:45150000-45153400	Weak transcription	K562	blood
42	chr21:45150000-45153600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:45150000-45158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:45150400-45154000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:45151000-45156400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:45151200-45152600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45151200-45152600	Enhancers	Pancreas	Pancrea

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