Variant report

Variant	rs3788113
Chromosome Location	chr21:45715620-45715621
allele	A/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	RELA	chr21:45715426-45715953	GM18505	blood:	n/a	chr21:45715794-45715803 chr21:45715794-45715803 chr21:45715675-45715684 chr21:45715675-45715684
2	ZKSCAN1	chr21:45715105-45715624	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr21:45715620-45715770	HCPEpiC	choroid plexus:	n/a	n/a
4	ZBTB7A	chr21:45715512-45715782	K562	blood:	n/a	n/a
5	RUNX3	chr21:45715599-45716052	GM12878	blood:	n/a	n/a
6	RELA	chr21:45715463-45716309	GM18951	blood:	n/a	chr21:45715794-45715803 chr21:45715794-45715803 chr21:45715675-45715684 chr21:45715675-45715684
7	CTCF	chr21:45715563-45715924	GM12878	blood:	n/a	chr21:45715896-45715905
8	ELF1	chr21:45714687-45716318	GM12878	blood:	n/a	chr21:45715564-45715576
9	MAZ	chr21:45714478-45715641	Hela-S3	cervix:	n/a	chr21:45714516-45714526 chr21:45715580-45715590 chr21:45714514-45714529 chr21:45714512-45714527 chr21:45715563-45715573
10	MTA3	chr21:45715530-45716187	GM12878	blood:	n/a	n/a
11	RCOR1	chr21:45714960-45715655	Hela-S3	cervix:	n/a	n/a
12	RELA	chr21:45715250-45715982	GM19099	blood:	n/a	chr21:45715794-45715803 chr21:45715794-45715803 chr21:45715675-45715684 chr21:45715675-45715684
13	RUNX3	chr21:45715321-45716022	GM12878	blood:	n/a	n/a
14	TFAP2A	chr21:45714165-45715685	Hela-S3	cervix:	n/a	chr21:45715277-45715289 chr21:45715277-45715289 chr21:45714246-45714258 chr21:45715276-45715291 chr21:45715277-45715289 chr21:45715277-45715289 chr21:45714246-45714258 chr21:45714246-45714258
15	MAZ	chr21:45715353-45715957	GM12878	blood:	n/a	chr21:45715580-45715590 chr21:45715700-45715710 chr21:45715563-45715573
16	CTCF	chr21:45715580-45715730	GM12869	blood:	n/a	n/a
17	SMC3	chr21:45714993-45715641	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr21:45715580-45715730	GM12872	blood:	n/a	n/a
19	RELA	chr21:45715331-45716046	GM12891	blood:	n/a	chr21:45715794-45715803 chr21:45715794-45715803 chr21:45715675-45715684 chr21:45715675-45715684
20	RAD21	chr21:45715565-45715823	GM12878	blood:	n/a	n/a
21	MTA3	chr21:45715358-45715864	GM12878	blood:	n/a	n/a
22	ZNF143	chr21:45715552-45715937	GM12878	blood:	n/a	chr21:45715721-45715739
23	TFAP2C	chr21:45714206-45715758	Hela-S3	cervix:	n/a	chr21:45715276-45715291
24	CTCF	chr21:45715560-45715710	GM12871	blood:	n/a	n/a
25	CTCF	chr21:45715580-45715730	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
2	chr21:45705948..45708747-chr21:45714407..45716597,2	MCF-7	breast:
3	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
4	chr21:45659483..45665024-chr21:45713867..45717970,6	MCF-7	breast:
5	chr21:45667331..45671337-chr21:45714492..45717750,6	MCF-7	breast:
6	chr21:45553772..45556030-chr21:45714036..45716706,2	MCF-7	breast:
7	chr21:45573193..45575716-chr21:45715248..45717300,2	K562	blood:
8	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:
9	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
10	chr21:45710342..45712046-chr21:45714277..45715786,2	MCF-7	breast:
11	chr21:45625185..45629583-chr21:45714810..45717707,4	MCF-7	breast:
12	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000225331	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000142182	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1800526	0.95[ASN][1000 genomes]
rs3746965	0.81[ASN][1000 genomes]
rs760426	0.94[ASN][1000 genomes]
rs760427	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:53 , 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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45708200-45717400	Weak transcription	Pancreas	Pancrea
2	chr21:45711600-45716200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:45711800-45715800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:45711800-45716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:45712000-45719200	Enhancers	Primary B cells from peripheral blood	blood
6	chr21:45712400-45716000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:45712400-45716000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr21:45712400-45716200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:45713000-45716200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:45713400-45716000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr21:45713600-45719000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr21:45713600-45719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:45713800-45716000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:45713800-45717400	Weak transcription	Stomach Mucosa	stomach
15	chr21:45713800-45718000	Weak transcription	Primary T cells from cord blood	blood
16	chr21:45713800-45719000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr21:45713800-45719200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:45714000-45716400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:45714000-45717800	Enhancers	GM12878-XiMat	blood
20	chr21:45714200-45715800	Enhancers	Adipose Nuclei	Adipose
21	chr21:45714200-45716000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr21:45714200-45716200	Enhancers	A549	lung
23	chr21:45714200-45716600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:45714200-45717400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:45714200-45717600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:45714200-45718000	Enhancers	Fetal Muscle Leg	muscle
27	chr21:45714200-45719000	Enhancers	Primary B cells from cord blood	blood
28	chr21:45714400-45715800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:45714400-45716000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45714400-45716000	Enhancers	Fetal Lung	lung
31	chr21:45714400-45716000	Flanking Active TSS	Hela-S3	cervix
32	chr21:45714400-45716000	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr21:45714400-45716000	Enhancers	HSMMtube	muscle
34	chr21:45714400-45716200	Enhancers	Fetal Intestine Small	intestine
35	chr21:45714400-45716200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr21:45714400-45716400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr21:45714600-45715800	Enhancers	Esophagus	oesophagus
38	chr21:45714600-45715800	Enhancers	Right Ventricle	heart
39	chr21:45714600-45716400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr21:45714600-45719000	Enhancers	Primary hematopoietic stem cells	blood
41	chr21:45714600-45719200	Weak transcription	Lung	lung
42	chr21:45714800-45716200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:45714800-45716200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr21:45714800-45716400	Enhancers	Fetal Thymus	thymus
45	chr21:45715000-45717400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:45715000-45717400	Weak transcription	Fetal Intestine Large	intestine
47	chr21:45715000-45719000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:45715200-45715800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:45715200-45716600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:45715200-45717400	Weak transcription	Brain Angular Gyrus	brain

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