Variant report

Variant	esv3428786
Chromosome Location	chr21:16436131-16439129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:561)
CpG islands
(count:611)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:16438114-16438527	K562	blood:	n/a	n/a
2	ARID3A	chr21:16437265-16437511	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:16438069-16438522	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:16435999-16436140	K562	blood:	n/a	n/a
5	ATF1	chr21:16438046-16438450	K562	blood:	n/a	n/a
6	ATF2	chr21:16438108-16438600	GM12878	blood:	n/a	n/a
7	ATF2	chr21:16438065-16438427	GM12878	blood:	n/a	n/a
8	BACH1	chr21:16437250-16437705	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr21:16438330-16438643	GM12878	blood:	n/a	n/a
10	BATF	chr21:16438265-16438682	GM12878	blood:	n/a	n/a
11	BCLAF1	chr21:16437129-16437671	GM12878	blood:	n/a	chr21:16437390-16437399 chr21:16437282-16437295 chr21:16437278-16437287 chr21:16437356-16437369 chr21:16437375-16437384 chr21:16437281-16437290
12	BHLHE40	chr21:16436891-16437504	GM12878	blood:	n/a	chr21:16437014-16437030 chr21:16437350-16437366 chr21:16437041-16437057 chr21:16437382-16437398
13	BHLHE40	chr21:16438020-16438830	K562	blood:	n/a	chr21:16438274-16438290
14	BHLHE40	chr21:16437247-16437697	K562	blood:	n/a	chr21:16437350-16437366 chr21:16437382-16437398
15	BHLHE40	chr21:16436173-16436357	K562	blood:	n/a	n/a
16	BHLHE40	chr21:16438008-16438928	GM12878	blood:	n/a	chr21:16438274-16438290
17	BRCA1	chr21:16436608-16436757	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr21:16437638-16437888	HepG2	liver:	n/a	n/a
19	CCNT2	chr21:16436402-16438540	K562	blood:	n/a	chr21:16437785-16437794
20	CEBPB	chr21:16438101-16438334	HepG2	liver:	n/a	n/a
21	CEBPB	chr21:16436203-16436594	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr21:16438119-16438522	K562	blood:	n/a	n/a
23	CEBPB	chr21:16437156-16437660	HepG2	liver:	n/a	n/a
24	CEBPB	chr21:16437241-16437500	K562	blood:	n/a	n/a
25	CEBPB	chr21:16438074-16438415	IMR90	lung:	n/a	n/a
26	CEBPB	chr21:16437243-16437496	HepG2	liver:	n/a	n/a
27	CEBPB	chr21:16437293-16437541	HepG2	liver:	n/a	n/a
28	CEBPB	chr21:16437422-16437514	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr21:16437214-16437604	IMR90	lung:	n/a	n/a
30	CEBPB	chr21:16437174-16437784	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr21:16438004-16438428	Hela-S3	cervix:	n/a	n/a
32	CEBPD	chr21:16437169-16437632	HepG2	liver:	n/a	n/a
33	CEBPD	chr21:16437911-16438429	K562	blood:	n/a	n/a
34	CHD1	chr21:16435390-16436209	GM12878	blood:	n/a	n/a
35	CHD1	chr21:16436843-16437442	GM12878	blood:	n/a	chr21:16437262-16437272
36	CHD2	chr21:16437283-16437771	HepG2	liver:	n/a	n/a
37	CHD2	chr21:16437302-16437615	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr21:16437213-16437772	GM12878	blood:	n/a	chr21:16437262-16437272
39	CHD2	chr21:16436313-16438293	Hela-S3	cervix:	n/a	chr21:16436645-16436652 chr21:16436568-16436578 chr21:16436686-16436696 chr21:16437262-16437272
40	CREB1	chr21:16436788-16437668	GM12878	blood:	n/a	n/a
41	CREB1	chr21:16437182-16437560	A549	lung:	n/a	n/a
42	CREB1	chr21:16438186-16438358	A549	lung:	n/a	n/a
43	CREB1	chr21:16437073-16437728	HepG2	liver:	n/a	n/a
44	CTBP2	chr21:16437030-16437790	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr21:16437580-16437730	RPTEC	kidney:	n/a	n/a
46	CTCF	chr21:16437720-16437870	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr21:16438032-16438109	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:16438220-16438370	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr21:16438020-16438170	HMEC	breast:	n/a	n/a
50	CTCF	chr21:16437620-16437770	Hela-S3	cervix:	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	chr21:16437768-16437818	BE2_C	brain:	n/a
2	chr21:16437768-16437818	BE2_C	brain:	n/a
3	chr21:16436121-16436171	PrEC	prostate:	n/a
4	chr21:16437351-16437401	AG10803	skin:	n/a
5	chr21:16436713-16436763	AG04450	lung:	fetal
6	chr21:16437288-16437338	AoSMC	blood vessel:	n/a
7	chr21:16437288-16437338	MCF10A-Er-Src	breast:	n/a
8	chr21:16437288-16437338	IMR90	lung:	fetal
9	chr21:16438166-16438216	LNCaP	prostate:	n/a
10	chr21:16436713-16436763	A549	lung:	n/a
11	chr21:16437339-16437389	MCF-7	breast:	n/a
12	chr21:16437768-16437818	NHDF-neo	bronchial:	n/a
13	chr21:16437288-16437338	GM06990	blood:	n/a
14	chr21:16437288-16437338	MCF-7	breast:	n/a
15	chr21:16436497-16436547	CMK	blood:	n/a
16	chr21:16437740-16437790	ovcar-3	ovarian:	n/a
17	chr21:16437339-16437389	Hela-S3	cervix:	n/a
18	chr21:16436121-16436171	GM19239	blood:	n/a
19	chr21:16436438-16436488	GM12892	blood:	n/a
20	chr21:16438166-16438216	HEEpiC	esophagus:	n/a
21	chr21:16436497-16436547	MCF-7	breast:	n/a
22	chr21:16436438-16436488	SK-N-SH_RA	brain:	n/a
23	chr21:16438166-16438216	RPTEC	kidney:	n/a
24	chr21:16437351-16437401	T-47D	breast:	n/a
25	chr21:16437768-16437818	AG04449	skin:	fetal
26	chr21:16436121-16436171	HRE	kidney:	n/a
27	chr21:16437339-16437389	HUVEC	blood vessel:	n/a
28	chr21:16436121-16436171	ovcar-3	ovarian:	n/a
29	chr21:16437339-16437389	PANC-1	pancreas:	n/a
30	chr21:16437351-16437401	ovcar-3	ovarian:	n/a
31	chr21:16438166-16438216	GM06990	blood:	n/a
32	chr21:16436713-16436763	MCF10A-Er-Src	breast:	n/a
33	chr21:16437339-16437389	HepG2	liver:	n/a
34	chr21:16436497-16436547	Jurkat	blood:	n/a
35	chr21:16436438-16436488	HPAEpiC	pulmonary alveolar:	n/a
36	chr21:16436713-16436763	Jurkat	blood:	n/a
37	chr21:16436438-16436488	IMR90	lung:	fetal
38	chr21:16436121-16436171	NHBE	bronchial:	n/a
39	chr21:16436121-16436171	RPTEC	kidney:	n/a
40	chr21:16438166-16438216	BJ	skin:	n/a
41	chr21:16436713-16436763	HEEpiC	esophagus:	n/a
42	chr21:16437740-16437790	RPTEC	kidney:	n/a
43	chr21:16437768-16437818	SK-N-SH_RA	brain:	n/a
44	chr21:16437288-16437338	HEEpiC	esophagus:	n/a
45	chr21:16436713-16436763	NT2-D1	testis:	n/a
46	chr21:16437351-16437401	NH-A	brain:	n/a
47	chr21:16437339-16437389	NHDF-neo	bronchial:	n/a
48	chr21:16437339-16437389	SK-N-SH_RA	brain:	n/a
49	chr21:16437288-16437338	T-47D	breast:	n/a
50	chr21:16436121-16436171	HRCEpiC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:49122004..49122667-chr21:16436444..16437375,2	MCF-7	breast:
2	chr21:16437425..16437973-chr21:16545153..16545668,2	MCF-7	breast:
3	chr21:16356082..16358745-chr21:16434038..16436986,2	MCF-7	breast:
4	chr21:15754870..15757296-chr21:16435942..16438083,2	K562	blood:
5	chr21:16331957..16335486-chr21:16435819..16438054,3	MCF-7	breast:
6	chr21:16144518..16147487-chr21:16436685..16438487,2	MCF-7	breast:
7	chr21:16437453..16439202-chr21:16715691..16717267,2	MCF-7	breast:
8	chr21:16348130..16350759-chr21:16437449..16439323,2	K562	blood:
9	chr21:16437341..16439300-chr21:16535726..16538232,3	MCF-7	breast:
10	chr21:16436352..16437069-chr8:29940111..29940787,2	Hela-S3	cervix:
11	chr16:31191040..31191919-chr21:16436772..16437353,2	Hela-S3	cervix:
12	chr21:16434967..16437063-chr21:16711446..16713527,2	MCF-7	breast:
13	chr21:16349007..16350759-chr21:16437811..16439323,2	K562	blood:
14	chr21:16436934..16437758-chr21:47705677..47706613,2	Hela-S3	cervix:
15	chr12:112450535..112451273-chr21:16437184..16438263,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000236471	TF binding region
NRIP1	TF binding region
ENSG00000236471	CpG island
NRIP1	CpG island
ENSG00000272256	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000089248	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000155304	chromatin interactions
ENSG00000225502	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000133872	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000229047	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143380836	chr21:16436174-16436175	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs577901981	chr21:16436179-16436180	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs533571931	chr21:16436180-16436181	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373066401	chr21:16436206-16436207	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs553374655	chr21:16436217-16436218	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs73338822	chr21:16436257-16436258	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150597244	chr21:16436286-16436287	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111819754	chr21:16436298-16436299	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs114166147	chr21:16436308-16436309	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562559873	chr21:16436431-16436432	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs77178144	chr21:16436448-16436449	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs576206352	chr21:16436459-16436460	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545206200	chr21:16436468-16436469	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs377383230	chr21:16436520-16436521	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs529932974	chr21:16436538-16436539	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs565203754	chr21:16436551-16436552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs527603934	chr21:16436552-16436553	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs547677703	chr21:16436580-16436581	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs149335450	chr21:16436592-16436593	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs529239203	chr21:16436643-16436644	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs549257519	chr21:16436670-16436671	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs569324978	chr21:16436703-16436704	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs554983207	chr21:16436755-16436756	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs538090670	chr21:16436800-16436801	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs189585555	chr21:16436839-16436840	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs370462113	chr21:16436893-16436894	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs571481785	chr21:16436896-16436897	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs534239044	chr21:16436899-16436900	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs144553965	chr21:16436923-16436924	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs573561477	chr21:16437030-16437031	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs536244762	chr21:16437060-16437061	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs191517556	chr21:16437107-16437108	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs576063926	chr21:16437133-16437134	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs545093932	chr21:16437261-16437262	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs560768127	chr21:16437288-16437289	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs558800252	chr21:16437467-16437468	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs183966661	chr21:16437529-16437530	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs78378540	chr21:16437537-16437538	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs561233150	chr21:16437558-16437559	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs370001121	chr21:16437608-16437609	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs529311000	chr21:16437662-16437663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs542993491	chr21:16437687-16437688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs562869602	chr21:16437722-16437723	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs531714410	chr21:16437769-16437770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs373755082	chr21:16437841-16437842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs551428235	chr21:16437844-16437845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs571518262	chr21:16437853-16437854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs527834021	chr21:16437872-16437873	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs189131585	chr21:16437878-16437879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs567942126	chr21:16437892-16437893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16429000-16439200	Active TSS	A549	lung
2	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
3	chr21:16433000-16439200	Active TSS	Right Atrium	heart
4	chr21:16433400-16439000	Active TSS	Psoas Muscle	Psoas
5	chr21:16433600-16436200	Flanking Active TSS	Dnd41	blood
6	chr21:16433800-16436200	Weak transcription	Spleen	Spleen
7	chr21:16433800-16439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:16433800-16439000	Active TSS	HSMM	muscle
9	chr21:16434200-16436200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:16434200-16438600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:16434200-16439000	Active TSS	Rectal Smooth Muscle	rectum
12	chr21:16434400-16436800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr21:16434400-16439000	Active TSS	Colonic Mucosa	Colon
14	chr21:16434400-16439000	Active TSS	Right Ventricle	heart
15	chr21:16434600-16436400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:16434600-16438800	Active TSS	Fetal Thymus	thymus
17	chr21:16434600-16438800	Active TSS	Thymus	Thymus
18	chr21:16434600-16439000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:16434600-16439000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:16434600-16439000	Active TSS	Fetal Intestine Large	intestine
21	chr21:16434800-16436200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr21:16434800-16436400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:16434800-16438600	Active TSS	K562	blood
24	chr21:16434800-16438800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:16434800-16439000	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr21:16434800-16439000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:16434800-16439000	Active TSS	Fetal Intestine Small	intestine
28	chr21:16434800-16439200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr21:16434800-16439200	Active TSS	HMEC	breast
30	chr21:16434800-16439400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:16435000-16436200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr21:16435000-16437400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:16435000-16438800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:16435000-16438800	Active TSS	Placenta	Placenta
35	chr21:16435000-16439000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr21:16435000-16439000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:16435000-16439000	Active TSS	Fetal Kidney	kidney
38	chr21:16435000-16439000	Active TSS	Fetal Stomach	stomach
39	chr21:16435000-16439000	Active TSS	Ovary	ovary
40	chr21:16435000-16439000	Active TSS	HSMMtube	muscle
41	chr21:16435000-16439200	Active TSS	Stomach Smooth Muscle	stomach
42	chr21:16435000-16439200	Active TSS	NHDF-Ad	bronchial
43	chr21:16435200-16436200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr21:16435200-16436200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr21:16435200-16436200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr21:16435200-16436400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr21:16435200-16436400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr21:16435200-16436400	Flanking Active TSS	Fetal Lung	lung
49	chr21:16435200-16436600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:16435200-16438400	Active TSS	NH-A	brain

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