Variant report

Variant	rs564895561
Chromosome Location	chr21:45720715-45720716
allele	C/T
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	CTCF	chr21:45720680-45720830	AG04449	skin:	n/a	n/a
2	POLR2A	chr21:45719493-45720927	ProgFib	skin:	n/a	n/a
3	ELF1	chr21:45720119-45720905	MCF-7	breast:	n/a	chr21:45720486-45720495 chr21:45720484-45720497 chr21:45720386-45720398 chr21:45720421-45720434
4	POLR2A	chr21:45718888-45720737	GM12878	blood:	n/a	n/a
5	TCF7L2	chr21:45720619-45720771	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:45719240-45720817	GM18526	blood:	n/a	n/a
7	POLR2A	chr21:45719046-45720784	GM12878	blood:	n/a	n/a
8	EGR1	chr21:45720244-45720804	MCF-7	breast:	n/a	chr21:45720508-45720521 chr21:45720535-45720549 chr21:45720508-45720521 chr21:45720506-45720516 chr21:45720508-45720522 chr21:45720508-45720521 chr21:45720507-45720522 chr21:45720509-45720523 chr21:45720511-45720520 chr21:45720511-45720521 chr21:45720508-45720521 chr21:45720504-45720526
9	ELF1	chr21:45720170-45720851	MCF-7	breast:	n/a	chr21:45720486-45720495 chr21:45720484-45720497 chr21:45720386-45720398 chr21:45720421-45720434
10	POLR2A	chr21:45719271-45720906	GM12878	blood:	n/a	n/a
11	HMGN3	chr21:45719325-45720819	K562	blood:	n/a	n/a
12	CTCF	chr21:45720620-45720770	MCF-7	breast:	n/a	n/a
13	EGR1	chr21:45720289-45720761	ECC-1	luminal epithelium:	n/a	chr21:45720508-45720521 chr21:45720535-45720549 chr21:45720508-45720521 chr21:45720506-45720516 chr21:45720508-45720522 chr21:45720508-45720521 chr21:45720507-45720522 chr21:45720509-45720523 chr21:45720511-45720520 chr21:45720511-45720521 chr21:45720508-45720521 chr21:45720504-45720526
14	POLR2A	chr21:45719113-45720950	U87	brain:	n/a	n/a
15	TAF1	chr21:45720184-45720858	HepG2	liver:	n/a	n/a
16	MYC	chr21:45720714-45720723	HepG2	liver:	n/a	n/a
17	MTA3	chr21:45720323-45721096	GM12878	blood:	n/a	n/a
18	CREB1	chr21:45719347-45720933	HepG2	liver:	n/a	n/a
19	POLR2A	chr21:45720184-45720765	HCT-116	colon:	n/a	n/a
20	POLR2A	chr21:45719206-45721031	HUVEC	blood vessel:	n/a	n/a
21	RCOR1	chr21:45720696-45720896	K562	blood:	n/a	n/a
22	MAZ	chr21:45719142-45720892	IMR90	lung:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
23	MAX	chr21:45719409-45720873	Hela-S3	cervix:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
24	MAX	chr21:45720166-45721006	HCT-116	colon:	n/a	chr21:45720507-45720517
25	MYC	chr21:45720685-45720776	MCF-7	breast:	n/a	n/a
26	POLR2A	chr21:45720184-45720758	SK-N-MC	brain:	n/a	n/a
27	CTCF	chr21:45720680-45720830	AG10803	skin:	n/a	n/a
28	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
29	MAX	chr21:45719311-45720906	ECC-1	luminal epithelium:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
30	RCOR1	chr21:45720375-45720725	GM12878	blood:	n/a	n/a
31	TAF1	chr21:45720214-45720754	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr21:45720088-45720794	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr21:45720172-45720760	SK-N-SH	brain:	n/a	chr21:45720507-45720517
34	ELF1	chr21:45719298-45720715	GM12878	blood:	n/a	chr21:45719417-45719429 chr21:45720486-45720495 chr21:45720118-45720127 chr21:45720484-45720497 chr21:45720386-45720398 chr21:45720421-45720434
35	POLR2A	chr21:45719257-45721090	IMR90	lung:	n/a	n/a
36	MYC	chr21:45720062-45720720	A549	lung:	n/a	chr21:45720507-45720517 chr21:45720074-45720084
37	MAX	chr21:45719315-45720742	SK-N-SH	brain:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
38	MAX	chr21:45720207-45720901	MCF-7	breast:	n/a	chr21:45720507-45720517
39	POLR2A	chr21:45719018-45720852	PFSK-1	brain:	n/a	n/a
40	MAZ	chr21:45720313-45720775	GM12878	blood:	n/a	chr21:45720507-45720517
41	CTCF	chr21:45720640-45720790	HMF	breast:	n/a	n/a
42	POLR2A	chr21:45719122-45722784	HL-60	blood:	n/a	n/a
43	EBF1	chr21:45720322-45720803	GM12878	blood:	n/a	n/a
44	IRF1	chr21:45720340-45720787	K562	blood:	n/a	n/a
45	POLR2A	chr21:45719345-45720887	MCF-7	breast:	n/a	n/a
46	POLR2A	chr21:45719396-45721058	HUVEC	blood vessel:	n/a	n/a
47	E2F6	chr21:45719378-45720748	K562	blood:	n/a	chr21:45720534-45720543 chr21:45720469-45720479
48	FOXP2	chr21:45720213-45720877	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr21:45718984-45721008	HL-60	blood:	n/a	n/a
50	HEY1	chr21:45720175-45720815	K562	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	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
8	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
9	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:
10	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
11	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
12	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
13	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
14	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
15	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
16	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
17	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
18	chr21:45644616..45646347-chr21:45720653..45723440,2	MCF-7	breast:
19	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
20	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
21	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
22	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
23	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000232969	Chromatin interaction
ENSG00000160233	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000229356	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000196678	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000005189	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000232010	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:55 , 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	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	nsv913938	chr21:45712588-45787250	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
48	nsv913939	chr21:45712588-45818609	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats 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
49	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
50	esv3351040	chr21:45719074-45721172	Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	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	chr21:45719000-45720800	Active TSS	Colon Smooth Muscle	Colon
3	chr21:45719000-45721000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr21:45719000-45721000	Active TSS	Fetal Brain Female	brain
5	chr21:45719200-45720800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:45719200-45720800	Active TSS	Aorta	Aorta
7	chr21:45719200-45720800	Active TSS	Esophagus	oesophagus
8	chr21:45719200-45720800	Active TSS	Ovary	ovary
9	chr21:45719200-45720800	Active TSS	Right Atrium	heart
10	chr21:45719200-45721000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr21:45719200-45721000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:45719200-45721000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr21:45719200-45721400	Active TSS	HSMM	muscle
14	chr21:45719400-45720800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:45719400-45720800	Active TSS	Brain Angular Gyrus	brain
16	chr21:45719400-45720800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:45719400-45720800	Active TSS	Fetal Intestine Large	intestine
18	chr21:45719400-45720800	Active TSS	Gastric	stomach
19	chr21:45719400-45720800	Active TSS	Left Ventricle	heart
20	chr21:45719400-45720800	Active TSS	Rectal Smooth Muscle	rectum
21	chr21:45719400-45720800	Active TSS	A549	lung
22	chr21:45719400-45721000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:45719400-45721000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr21:45719400-45721000	Active TSS	Small Intestine	intestine
25	chr21:45719400-45721200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:45719400-45721200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr21:45719400-45721200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr21:45719400-45721200	Active TSS	NHDF-Ad	bronchial
29	chr21:45719400-45721400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45719600-45720800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:45719600-45720800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr21:45719600-45720800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:45719600-45720800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:45719600-45720800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:45719600-45720800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:45719600-45720800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:45719600-45720800	Active TSS	Fetal Intestine Small	intestine
38	chr21:45719600-45720800	Active TSS	Fetal Lung	lung
39	chr21:45719600-45720800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr21:45719600-45720800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr21:45719600-45720800	Active TSS	Hela-S3	cervix
42	chr21:45719600-45720800	Active TSS	NHEK	skin
43	chr21:45719600-45721000	Active TSS	HepG2	liver
44	chr21:45719600-45721000	Active TSS	HMEC	breast
45	chr21:45719600-45721200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:45719600-45721200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr21:45719600-45721200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:45719600-45721400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr21:45719600-45721400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:45719800-45720800	Active TSS	Primary T helper cells PMA-I stimulated	--

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