Variant report

Variant	rs575714871
Chromosome Location	chr21:45719477-45719478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr21:45719363-45719563	GM12878	blood:	n/a	n/a
2	CTCF	chr21:45719400-45719550	WERI-Rb-1	eye:	n/a	n/a
3	JUND	chr21:45719363-45719544	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr21:45719092-45719866	GM12878	blood:	n/a	chr21:45719200-45719207
5	PAX5	chr21:45719404-45719659	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:45719424-45720637	K562	blood:	n/a	n/a
7	HEY1	chr21:45719362-45720168	K562	blood:	n/a	n/a
8	ZBTB7A	chr21:45719387-45719946	ECC-1	luminal epithelium:	n/a	chr21:45719671-45719678
9	YY1	chr21:45719016-45719879	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:45718888-45720737	GM12878	blood:	n/a	n/a
11	PAX5	chr21:45719346-45720151	GM12892	blood:	n/a	n/a
12	CTCF	chr21:45719360-45719510	HBMEC	blood vessel:	n/a	n/a
13	MYBL2	chr21:45719428-45719897	HepG2	liver:	n/a	n/a
14	TAF1	chr21:45719386-45720187	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr21:45719240-45720817	GM18526	blood:	n/a	n/a
16	POLR2A	chr21:45719046-45720784	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:45719145-45720082	SK-N-MC	brain:	n/a	n/a
18	TBP	chr21:45719030-45719669	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:45719358-45720630	K562	blood:	n/a	n/a
20	TCF3	chr21:45719281-45719860	GM12878	blood:	n/a	n/a
21	STAT5A	chr21:45718940-45719861	GM12878	blood:	n/a	chr21:45719583-45719595 chr21:45719578-45719590 chr21:45719577-45719589
22	TFAP2C	chr21:45719169-45719825	Hela-S3	cervix:	n/a	n/a
23	PAX5	chr21:45719341-45719708	GM12878	blood:	n/a	n/a
24	ZNF143	chr21:45719364-45719692	K562	blood:	n/a	chr21:45719576-45719594
25	POLR2A	chr21:45719271-45720906	GM12878	blood:	n/a	n/a
26	PML	chr21:45719422-45720197	MCF-7	breast:	n/a	n/a
27	CUX1	chr21:45719150-45719617	GM12878	blood:	n/a	n/a
28	WRNIP1	chr21:45719106-45719580	GM12878	blood:	n/a	n/a
29	MTA3	chr21:45718978-45719867	GM12878	blood:	n/a	n/a
30	ZKSCAN1	chr21:45719337-45719528	Hela-S3	cervix:	n/a	n/a
31	HMGN3	chr21:45719325-45720819	K562	blood:	n/a	n/a
32	RCOR1	chr21:45718920-45719662	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45719290-45720173	HCT-116	colon:	n/a	n/a
34	FOXM1	chr21:45718942-45719748	GM12878	blood:	n/a	n/a
35	TAF1	chr21:45719398-45720140	HepG2	liver:	n/a	n/a
36	EBF1	chr21:45719240-45719789	GM12878	blood:	n/a	chr21:45719569-45719580
37	MAZ	chr21:45719393-45720000	HepG2	liver:	n/a	chr21:45719741-45719751
38	TAF1	chr21:45719378-45720144	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr21:45719113-45720950	U87	brain:	n/a	n/a
40	USF2	chr21:45718991-45719574	GM12878	blood:	n/a	n/a
41	E2F6	chr21:45719376-45719911	A549	lung:	n/a	n/a
42	MXI1	chr21:45719416-45719609	K562	blood:	n/a	n/a
43	YY1	chr21:45719306-45719688	GM12891	blood:	n/a	n/a
44	MAX	chr21:45719323-45720452	H1-hESC	embryonic stem cell:	n/a	chr21:45719741-45719751 chr21:45720074-45720084
45	MYC	chr21:45719076-45719478	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr21:45719342-45719683	K562	blood:	n/a	n/a
47	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
48	CREB1	chr21:45719347-45720933	HepG2	liver:	n/a	n/a
49	POLR2A	chr21:45719206-45721031	HUVEC	blood vessel:	n/a	n/a
50	MAZ	chr21:45719142-45720892	IMR90	lung:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
2	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
3	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
4	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
5	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
6	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
7	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
8	chr21:45529641..45531506-chr21:45718091..45719694,2	MCF-7	breast:
9	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
10	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
11	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
12	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
13	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
14	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
15	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
16	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
17	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
18	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:

No data

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000196678	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000005189	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000142182	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
8	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
9	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
10	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv531555	chr21:45665972-45757659	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv913907	chr21:45668171-45740823	Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
16	nsv913910	chr21:45681153-45787250	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
18	nsv913912	chr21:45687581-45768598	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv913913	chr21:45687581-45787250	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv913914	chr21:45688215-45750346	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv913916	chr21:45697755-45752176	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv913917	chr21:45697755-45787250	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
24	esv1797914	chr21:45699320-45720524	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	nsv913919	chr21:45699404-45752176	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv913920	chr21:45699404-45824792	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
27	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
28	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
29	esv1796916	chr21:45700641-45720524	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
30	esv1850701	chr21:45700641-45724055	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	nsv913923	chr21:45700641-45726790	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
32	nsv913924	chr21:45700641-45740823	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
33	nsv913925	chr21:45700641-45752176	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
34	nsv913926	chr21:45700641-45764397	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
35	nsv913927	chr21:45700641-45787250	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
36	nsv913928	chr21:45700641-45811343	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
37	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
38	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
39	nsv587774	chr21:45703660-45726790	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
40	nsv913931	chr21:45703660-45764397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
41	nsv913932	chr21:45703660-45787250	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
42	nsv913933	chr21:45703660-45811343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
43	nsv913934	chr21:45704644-45739965	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
44	esv1851447	chr21:45705239-45723628	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	esv1851709	chr21:45705770-45720575	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	esv1847347	chr21:45709153-45720575	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
47	nsv913935	chr21:45709153-45787250	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
48	nsv913936	chr21:45709153-45811343	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
49	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
50	nsv526673	chr21:45711202-45723384	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45718800-45720800	Active TSS	GM12878-XiMat	blood
2	chr21:45719000-45719600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:45719000-45719600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr21:45719000-45719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:45719000-45719600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:45719000-45719600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr21:45719000-45719600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr21:45719000-45719600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr21:45719000-45719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:45719000-45719600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:45719000-45719600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr21:45719000-45719600	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr21:45719000-45719600	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr21:45719000-45719600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr21:45719000-45719600	Flanking Active TSS	Fetal Brain Male	brain
16	chr21:45719000-45719600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr21:45719000-45719600	Flanking Active TSS	Hela-S3	cervix
18	chr21:45719000-45719600	Flanking Active TSS	K562	blood
19	chr21:45719000-45719600	Flanking Active TSS	NHEK	skin
20	chr21:45719000-45719800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr21:45719000-45719800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr21:45719000-45719800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:45719000-45719800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:45719000-45719800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr21:45719000-45719800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr21:45719000-45719800	Flanking Active TSS	Dnd41	blood
30	chr21:45719000-45719800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr21:45719000-45720600	Active TSS	Brain Germinal Matrix	brain
32	chr21:45719000-45720800	Active TSS	Colon Smooth Muscle	Colon
33	chr21:45719000-45721000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr21:45719000-45721000	Active TSS	Fetal Brain Female	brain
35	chr21:45719200-45719600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:45719200-45719600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:45719200-45719600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:45719200-45719600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:45719200-45719600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:45719200-45719600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr21:45719200-45719600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:45719200-45719600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:45719200-45719600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr21:45719200-45719600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr21:45719200-45719600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:45719200-45719600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr21:45719200-45719600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45719200-45719600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr21:45719200-45719600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:45719200-45719600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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