Variant report

Variant	esv3409023
Chromosome Location	chr21:46292349-46295097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:686)
CpG islands
(count:732)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:686 , 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	ARID3A	chr21:46292067-46292425	K562	blood:	n/a	n/a
2	ARID3A	chr21:46293586-46293745	HepG2	liver:	n/a	n/a
3	BACH1	chr21:46292351-46292654	K562	blood:	n/a	n/a
4	BACH1	chr21:46293766-46294297	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr21:46293564-46293969	A549	lung:	n/a	chr21:46293937-46293953
6	BHLHE40	chr21:46294887-46295533	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:46293694-46294113	HepG2	liver:	n/a	chr21:46293937-46293953
8	BHLHE40	chr21:46294615-46294630	K562	blood:	n/a	n/a
9	BHLHE40	chr21:46293438-46294482	GM12878	blood:	n/a	chr21:46293937-46293953
10	BHLHE40	chr21:46293533-46294335	K562	blood:	n/a	chr21:46293937-46293953
11	BHLHE40	chr21:46293516-46294012	HepG2	liver:	n/a	chr21:46293937-46293953
12	BHLHE40	chr21:46292393-46292567	K562	blood:	n/a	n/a
13	BRCA1	chr21:46291633-46292600	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr21:46294289-46294587	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr21:46294067-46294082	GM12878	blood:	n/a	n/a
16	BRCA1	chr21:46293688-46293937	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:46294326-46294650	GM12878	blood:	n/a	n/a
18	BRCA1	chr21:46294279-46294538	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr21:46293447-46294492	K562	blood:	n/a	n/a
20	CCNT2	chr21:46292798-46294277	K562	blood:	n/a	chr21:46293347-46293356 chr21:46293694-46293703 chr21:46293341-46293350
21	CEBPB	chr21:46291716-46292785	MCF-7	breast:	n/a	chr21:46292470-46292481
22	CEBPB	chr21:46291811-46292676	Hela-S3	cervix:	n/a	chr21:46292470-46292481
23	CEBPB	chr21:46291830-46292649	HepG2	liver:	n/a	chr21:46292470-46292481
24	CEBPB	chr21:46291749-46292781	MCF-7	breast:	n/a	chr21:46292470-46292481
25	CEBPB	chr21:46292220-46292598	K562	blood:	n/a	chr21:46292470-46292481
26	CEBPB	chr21:46292337-46292517	K562	blood:	n/a	chr21:46292470-46292481
27	CEBPB	chr21:46291881-46292631	HepG2	liver:	n/a	chr21:46292470-46292481
28	CEBPB	chr21:46291779-46292683	K562	blood:	n/a	chr21:46292470-46292481
29	CEBPB	chr21:46293570-46293678	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:46291805-46292659	IMR90	lung:	n/a	chr21:46292470-46292481
31	CEBPB	chr21:46292335-46292597	HepG2	liver:	n/a	chr21:46292470-46292481
32	CEBPB	chr21:46291815-46292641	A549	lung:	n/a	chr21:46292470-46292481
33	CEBPD	chr21:46293294-46293700	HepG2	liver:	n/a	n/a
34	CHD1	chr21:46294794-46295162	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr21:46293902-46294587	GM12878	blood:	n/a	n/a
36	CHD1	chr21:46292962-46293151	GM12878	blood:	n/a	n/a
37	CHD1	chr21:46292833-46293144	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr21:46294291-46294385	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr21:46293479-46293589	GM12878	blood:	n/a	n/a
40	CHD1	chr21:46294887-46295832	GM12878	blood:	n/a	n/a
41	CHD2	chr21:46293428-46294706	GM12878	blood:	n/a	chr21:46293667-46293677
42	CHD2	chr21:46294058-46294631	K562	blood:	n/a	n/a
43	CHD2	chr21:46293525-46293729	HepG2	liver:	n/a	chr21:46293667-46293677
44	CHD2	chr21:46292621-46294635	Hela-S3	cervix:	n/a	chr21:46293147-46293157 chr21:46293667-46293677
45	CHD2	chr21:46293505-46293729	K562	blood:	n/a	chr21:46293667-46293677
46	CHD2	chr21:46295068-46295119	K562	blood:	n/a	n/a
47	CHD2	chr21:46292724-46292771	HepG2	liver:	n/a	n/a
48	CHD2	chr21:46294049-46294645	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr21:46294996-46295506	GM12878	blood:	n/a	n/a
50	CREB1	chr21:46293382-46293706	A549	lung:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46292527-46292577	SAEC	small airway:	n/a
2	chr21:46294058-46294108	BJ	skin:	n/a
3	chr21:46293809-46293859	GM12878	blood:	n/a
4	chr21:46294185-46294235	BJ	skin:	n/a
5	chr21:46293807-46293857	LNCaP	prostate:	n/a
6	chr21:46294356-46294406	AG09319	gingival:	n/a
7	chr21:46293812-46293862	MCF-7	breast:	n/a
8	chr21:46294058-46294108	SK-N-MC	brain:	n/a
9	chr21:46294356-46294406	Hela-S3	cervix:	n/a
10	chr21:46292710-46292760	ProgFib	skin:	n/a
11	chr21:46293563-46293613	RPTEC	kidney:	n/a
12	chr21:46294237-46294287	GM19239	blood:	n/a
13	chr21:46293812-46293862	HCT-116	colon:	n/a
14	chr21:46294058-46294108	AG10803	skin:	n/a
15	chr21:46292527-46292577	AG10803	skin:	n/a
16	chr21:46293563-46293613	IMR90	lung:	fetal
17	chr21:46293672-46293722	A549	lung:	n/a
18	chr21:46294058-46294108	SK-N-SH_RA	brain:	n/a
19	chr21:46293807-46293857	AG09309	skin:	n/a
20	chr21:46293672-46293722	HMEC	breast:	n/a
21	chr21:46294185-46294235	HEK293	kidney:	embryo
22	chr21:46293807-46293857	GM12878	blood:	n/a
23	chr21:46293672-46293722	NH-A	brain:	n/a
24	chr21:46293807-46293857	SK-N-SH_RA	brain:	n/a
25	chr21:46292527-46292577	HCM	heart:	n/a
26	chr21:46294185-46294235	ovcar-3	ovarian:	n/a
27	chr21:46294058-46294108	AG04449	skin:	fetal
28	chr21:46293672-46293722	H1-hESC	embryonic stem cell:	embryo
29	chr21:46293672-46293722	HL-60	blood:	n/a
30	chr21:46294058-46294108	HIPEpiC	eye:	n/a
31	chr21:46294237-46294287	SK-N-MC	brain:	n/a
32	chr21:46292710-46292760	AG04450	lung:	fetal
33	chr21:46294237-46294287	K562	blood:	n/a
34	chr21:46292710-46292760	BE2_C	brain:	n/a
35	chr21:46293646-46293696	SAEC	small airway:	n/a
36	chr21:46292527-46292577	HUVEC	blood vessel:	n/a
37	chr21:46293809-46293859	BJ	skin:	n/a
38	chr21:46293563-46293613	Caco-2	colon:	n/a
39	chr21:46294185-46294235	GM06990	blood:	n/a
40	chr21:46293807-46293857	GM06990	blood:	n/a
41	chr21:46293672-46293722	ECC-1	luminal epithelium:	n/a
42	chr21:46294185-46294235	SAEC	small airway:	n/a
43	chr21:46294058-46294108	HRCEpiC	kidney:	n/a
44	chr21:46293807-46293857	ovcar-3	ovarian:	n/a
45	chr21:46292527-46292577	HRCEpiC	kidney:	n/a
46	chr21:46292527-46292577	NB4	blood:	n/a
47	chr21:46293809-46293859	SK-N-SH_RA	brain:	n/a
48	chr21:46292527-46292577	SKMC	muscle:	n/a
49	chr21:46293809-46293859	AoSMC	blood vessel:	n/a
50	chr21:46293646-46293696	SK-N-SH	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
2	chr21:46294976..46295889-chr8:63408636..63409252,2	MCF-7	breast:
3	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
4	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
5	chr19:49122022..49122749-chr21:46293375..46294086,2	Hela-S3	cervix:
6	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
7	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
8	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
9	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
10	chr15:65588153..65588988-chr21:46292057..46292933,2	Hela-S3	cervix:
11	chr21:46194730..46196311-chr21:46292616..46294794,2	K562	blood:
12	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
13	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
14	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
15	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
16	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
17	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
18	chr21:46293553..46294470-chr21:46359794..46360468,2	Hela-S3	cervix:
19	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
20	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
21	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
22	chr21:46265590..46266360-chr21:46294954..46295944,5	MCF-7	breast:
23	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
24	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
25	chr21:46293215..46295653-chr21:46346335..46349274,2	K562	blood:
26	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
27	chr21:46294020..46295642-chr21:47310587..47313582,2	K562	blood:
28	chr21:46294382..46294995-chr21:47312113..47312613,2	Hela-S3	cervix:
29	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
30	chr21:46289780..46292382-chr21:46492719..46495344,2	MCF-7	breast:
31	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
PTTG1IP	CpG island
ENSG00000273027	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000269688	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000183255	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567246522	chr21:46292360-46292361	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs146770926	chr21:46292365-46292366	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs2248034	chr21:46292384-46292385	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569681601	chr21:46292403-46292404	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs530616995	chr21:46292491-46292492	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs183946737	chr21:46292514-46292515	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs567204613	chr21:46292548-46292549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs535345827	chr21:46292572-46292573	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs188221908	chr21:46292585-46292586	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs571965460	chr21:46292587-46292588	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs79999188	chr21:46292613-46292614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs114810347	chr21:46292618-46292619	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs561792752	chr21:46292634-46292635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs575664171	chr21:46292646-46292647	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs34940823	chr21:46292686-46292687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs145617481	chr21:46292710-46292711	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs386819230	chr21:46292736-46292737	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs235371	chr21:46292738-46292739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs540225137	chr21:46292744-46292745	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs559271545	chr21:46292745-46292746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs138150795	chr21:46292746-46292747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs117650092	chr21:46292809-46292810	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs563466044	chr21:46292819-46292820	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs149158246	chr21:46292824-46292825	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs181361421	chr21:46292834-46292835	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs560954586	chr21:46292842-46292843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs528122248	chr21:46292866-46292867	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs532745490	chr21:46292884-46292885	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs546617483	chr21:46292896-46292897	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs572012255	chr21:46292921-46292922	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs35466627	chr21:46292951-46292952	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs184051475	chr21:46292969-46292970	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs550897722	chr21:46292988-46292989	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs569404372	chr21:46292998-46292999	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs190049122	chr21:46292999-46293000	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs117542643	chr21:46293002-46293003	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs572977806	chr21:46293041-46293042	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs533975252	chr21:46293045-46293046	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs372508971	chr21:46293057-46293058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs62221472	chr21:46293070-46293071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369762943	chr21:46293116-46293117	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs577523215	chr21:46293148-46293149	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs545262693	chr21:46293188-46293189	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs235372	chr21:46293271-46293272	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537567714	chr21:46293339-46293340	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs374914178	chr21:46293380-46293381	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs542437719	chr21:46293413-46293414	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs17852921	chr21:46293448-46293449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs11537964	chr21:46293454-46293455	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs11537963	chr21:46293472-46293473	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289400-46292400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:46289600-46292400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr21:46289600-46292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:46289600-46292600	Flanking Active TSS	Osteobl	bone
5	chr21:46289800-46292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:46290000-46292400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:46290400-46292400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr21:46290400-46292600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:46290600-46292400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:46290600-46292400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr21:46290600-46292400	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr21:46290600-46292400	Flanking Active TSS	Hela-S3	cervix
14	chr21:46290600-46292600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:46290600-46292600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr21:46290600-46292600	Enhancers	Spleen	Spleen
17	chr21:46290600-46292800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:46290600-46292800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr21:46290600-46292800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr21:46290600-46292800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:46290600-46292800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:46290600-46292800	Flanking Active TSS	NH-A	brain
23	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr21:46290600-46293000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr21:46290600-46293000	Flanking Active TSS	HMEC	breast
27	chr21:46290600-46293000	Flanking Active TSS	K562	blood
28	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:46290800-46292400	Flanking Active TSS	NHLF	lung
31	chr21:46290800-46292600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:46290800-46292600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr21:46290800-46292800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:46290800-46292800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr21:46290800-46292800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr21:46290800-46292800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr21:46290800-46292800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr21:46290800-46292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:46290800-46293000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr21:46291000-46292800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:46291200-46292400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr21:46291200-46292600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr21:46291200-46292600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr21:46291200-46292800	Flanking Active TSS	Right Ventricle	heart
45	chr21:46291200-46293000	Bivalent/Poised TSS	HepG2	liver
46	chr21:46291200-46295200	Active TSS	Aorta	Aorta
47	chr21:46291400-46292600	Flanking Active TSS	Fetal Brain Female	brain
48	chr21:46291400-46292600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
49	chr21:46291400-46293000	Flanking Active TSS	Placenta	Placenta
50	chr21:46291600-46292400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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