Variant report

Variant	rs552522235
Chromosome Location	chr21:45719254-45719255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr21:45719092-45719866	GM12878	blood:	n/a	chr21:45719200-45719207
2	YY1	chr21:45719016-45719879	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:45718888-45720737	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:45719240-45720817	GM18526	blood:	n/a	n/a
5	POLR2A	chr21:45719046-45720784	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:45719145-45720082	SK-N-MC	brain:	n/a	n/a
7	TBP	chr21:45719030-45719669	GM12878	blood:	n/a	n/a
8	STAT5A	chr21:45718940-45719861	GM12878	blood:	n/a	chr21:45719583-45719595 chr21:45719578-45719590 chr21:45719577-45719589
9	TFAP2C	chr21:45719169-45719825	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr21:45719184-45719384	MCF10A-Er-Src	breast:	n/a	chr21:45719200-45719207
11	POLR2A	chr21:45719161-45719470	U87	brain:	n/a	n/a
12	CUX1	chr21:45719150-45719617	GM12878	blood:	n/a	n/a
13	WRNIP1	chr21:45719106-45719580	GM12878	blood:	n/a	n/a
14	MTA3	chr21:45718978-45719867	GM12878	blood:	n/a	n/a
15	RCOR1	chr21:45718920-45719662	GM12878	blood:	n/a	n/a
16	FOXM1	chr21:45718942-45719748	GM12878	blood:	n/a	n/a
17	EBF1	chr21:45719240-45719789	GM12878	blood:	n/a	chr21:45719569-45719580
18	POLR2A	chr21:45719113-45720950	U87	brain:	n/a	n/a
19	USF2	chr21:45718991-45719574	GM12878	blood:	n/a	n/a
20	MYC	chr21:45719076-45719478	MCF10A-Er-Src	breast:	n/a	n/a
21	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:45719206-45721031	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chr21:45719142-45720892	IMR90	lung:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
24	NFATC1	chr21:45718950-45719616	GM12878	blood:	n/a	n/a
25	RUNX3	chr21:45718948-45719892	GM12878	blood:	n/a	n/a
26	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
27	RELA	chr21:45719099-45719859	GM12891	blood:	n/a	n/a
28	POLR2A	chr21:45719105-45720661	GM18951	blood:	n/a	n/a
29	EP300	chr21:45719125-45719835	GM12878	blood:	n/a	n/a
30	KAP1	chr21:45719136-45719689	HEK293	kidney:	n/a	n/a
31	MAX	chr21:45719191-45719887	H1-hESC	embryonic stem cell:	n/a	chr21:45719741-45719751
32	MAX	chr21:45719162-45719644	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr21:45719236-45720133	A549	lung:	n/a	chr21:45719741-45719751 chr21:45720074-45720084
34	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
35	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
36	E2F6	chr21:45719247-45720121	K562	blood:	n/a	n/a
37	HA-E2F1	chr21:45719080-45719842	MCF-7	breast:	n/a	chr21:45719200-45719207
38	MAX	chr21:45719052-45720645	K562	blood:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
39	REST	chr21:45719109-45719677	HL-60	blood:	n/a	n/a
40	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
41	STAT3	chr21:45719146-45719346	MCF10A-Er-Src	breast:	n/a	n/a
42	PML	chr21:45719250-45719572	GM12878	blood:	n/a	n/a
43	POLR2A	chr21:45719018-45720852	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr21:45719254-45719538	GM12891	blood:	n/a	n/a
45	BHLHE40	chr21:45718957-45720073	GM12878	blood:	n/a	chr21:45719589-45719605
46	BACH1	chr21:45719065-45719257	K562	blood:	n/a	n/a
47	POLR2A	chr21:45719122-45722784	HL-60	blood:	n/a	n/a
48	POLR2A	chr21:45718939-45720562	GM12892	blood:	n/a	n/a
49	MTA3	chr21:45718923-45719912	GM12878	blood:	n/a	n/a
50	TCF12	chr21:45719025-45719266	GM12878	blood:	n/a	n/a

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	chr21:45529641..45531506-chr21:45718091..45719694,2	MCF-7	breast:
8	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
9	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
10	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
11	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
12	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
13	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
14	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
15	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
16	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
17	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIRE-2	chr21:45718898-45719293	expReg_chr21_1765_+

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000196678	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000005189	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000184787	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	chr21:45719000-45719400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr21:45719000-45719400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr21:45719000-45719400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:45719000-45719400	Flanking Active TSS	Fetal Kidney	kidney
6	chr21:45719000-45719400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr21:45719000-45719400	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr21:45719000-45719400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr21:45719000-45719400	Enhancers	Small Intestine	intestine
10	chr21:45719000-45719400	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr21:45719000-45719400	Enhancers	Spleen	Spleen
12	chr21:45719000-45719400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr21:45719000-45719600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45719000-45719600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr21:45719000-45719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45719000-45719600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:45719000-45719600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:45719000-45719600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr21:45719000-45719600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr21:45719000-45719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:45719000-45719600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:45719000-45719600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr21:45719000-45719600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr21:45719000-45719600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr21:45719000-45719600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr21:45719000-45719600	Flanking Active TSS	Fetal Brain Male	brain
27	chr21:45719000-45719600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr21:45719000-45719600	Flanking Active TSS	Hela-S3	cervix
29	chr21:45719000-45719600	Flanking Active TSS	K562	blood
30	chr21:45719000-45719600	Flanking Active TSS	NHEK	skin
31	chr21:45719000-45719800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr21:45719000-45719800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr21:45719000-45719800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr21:45719000-45719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:45719000-45719800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:45719000-45719800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:45719000-45719800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr21:45719000-45719800	Flanking Active TSS	Dnd41	blood
41	chr21:45719000-45719800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr21:45719000-45720600	Active TSS	Brain Germinal Matrix	brain
43	chr21:45719000-45720800	Active TSS	Colon Smooth Muscle	Colon
44	chr21:45719000-45721000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr21:45719000-45721000	Active TSS	Fetal Brain Female	brain
46	chr21:45719200-45719400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr21:45719200-45719400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:45719200-45719400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:45719200-45719400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr21:45719200-45719400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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