Variant report

Variant	rs59900126
Chromosome Location	chr21:44844223-44844224
allele	A/C
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	POLR2A	chr21:44843935-44845990	HepG2	liver:	n/a	n/a
2	MYC	chr21:44843994-44844414	MCF10A-Er-Src	breast:	n/a	n/a
3	SIN3AK20	chr21:44843826-44844912	A549	lung:	n/a	n/a
4	BCL3	chr21:44843735-44845840	A549	lung:	n/a	n/a
5	SIN3AK20	chr21:44844095-44844303	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr21:44843901-44844612	GM12878	blood:	n/a	n/a
7	MAX	chr21:44843996-44844888	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr21:44843804-44847652	A549	lung:	n/a	chr21:44845692-44845703
9	POLR2A	chr21:44843825-44848789	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr21:44843337-44848672	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr21:44844120-44844270	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr21:44844017-44844606	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:44843944-44844603	HepG2	liver:	n/a	n/a
14	REST	chr21:44843887-44844616	A549	lung:	n/a	chr21:44844179-44844192
15	MXI1	chr21:44844011-44844339	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:44843966-44844351	A549	lung:	n/a	n/a
17	RAD21	chr21:44843953-44844568	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr21:44844049-44844598	Hela-S3	cervix:	n/a	n/a
19	GTF2F1	chr21:44843984-44844526	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr21:44843828-44844631	Hela-S3	cervix:	n/a	n/a
21	MYC	chr21:44844038-44844481	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr21:44843705-44844387	A549	lung:	n/a	n/a
23	POLR2A	chr21:44831096-44848845	Hela-S3	cervix:	n/a	n/a
24	TBP	chr21:44843849-44845828	Hela-S3	cervix:	n/a	n/a
25	SP1	chr21:44843753-44844776	A549	lung:	n/a	n/a
26	GATA3	chr21:44843850-44844540	A549	lung:	n/a	n/a
27	POLR2A	chr21:44843910-44848744	IMR90	lung:	n/a	n/a
28	SMC3	chr21:44844016-44844662	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:44843917-44844687	GM12878	blood:	n/a	n/a
30	STAT3	chr21:44844048-44844248	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr21:44843864-44844404	HepG2	liver:	n/a	n/a
32	POLR2A	chr21:44844157-44844239	MCF-7	breast:	n/a	n/a
33	SP1	chr21:44843698-44846777	A549	lung:	n/a	chr21:44846592-44846604 chr21:44846236-44846248 chr21:44846593-44846603 chr21:44846730-44846742 chr21:44846236-44846248 chr21:44846592-44846604 chr21:44846593-44846602 chr21:44846237-44846246 chr21:44846237-44846247
34	MAX	chr21:44843992-44844323	A549	lung:	n/a	n/a
35	POLR2A	chr21:44827963-44846612	A549	lung:	n/a	n/a
36	TAF1	chr21:44844077-44844312	Hela-S3	cervix:	n/a	n/a
37	ATF3	chr21:44843997-44844632	A549	lung:	n/a	n/a
38	USF1	chr21:44843830-44844465	A549	lung:	n/a	n/a
39	BCL3	chr21:44843776-44844678	A549	lung:	n/a	n/a
40	POLR2A	chr21:44844026-44844319	A549	lung:	n/a	n/a
41	TAF1	chr21:44842296-44844595	A549	lung:	n/a	n/a
42	POLR2A	chr21:44843888-44844628	Hela-S3	cervix:	n/a	n/a
43	MAX	chr21:44843924-44844472	A549	lung:	n/a	n/a
44	MAX	chr21:44843823-44844641	A549	lung:	n/a	n/a
45	FOSL2	chr21:44843837-44844388	A549	lung:	n/a	n/a
46	POLR2A	chr21:44843895-44849330	Hela-S3	cervix:	n/a	n/a
47	FOS	chr21:44844132-44844584	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr21:44843708-44846133	A549	lung:	n/a	chr21:44844179-44844192
49	TCF12	chr21:44843777-44846794	A549	lung:	n/a	chr21:44844865-44844875 chr21:44844869-44844876
50	NRF1	chr21:44844182-44844430	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150337019..150337606-chr21:44843687..44844677,2	Hela-S3	cervix:
2	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
3	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
4	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
5	chr21:44601197..44603306-chr21:44842721..44844263,2	MCF-7	breast:

Variant related genes	Relation type
SIK1	TF binding region
ENSG00000188660	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000237864	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2838299	0.80[EUR][1000 genomes]
rs2838300	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838301	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838302	1.00[EUR][1000 genomes]
rs55707874	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158207	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56265008	1.00[EUR][1000 genomes]
rs56796001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57684950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58117343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291524	1.00[ASN][1000 genomes]
rs58732746	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58751812	1.00[ASN][1000 genomes]
rs58901188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59151119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60022979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60054163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60066227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60567075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61279087	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696572	1.00[ASN][1000 genomes]
rs73380285	1.00[ASN][1000 genomes]
rs73380290	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762389	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762390	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs857552	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking 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 miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
13	nsv913848	chr21:44817248-44848070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
15	nsv470902	chr21:44821867-44848069	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
16	nsv913851	chr21:44821867-44848070	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
17	nsv459283	chr21:44823479-44853859	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv587673	chr21:44823479-44853859	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv587674	chr21:44823479-44858534	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	51 gene(s)	inside rSNPs	diseases
20	nsv516339	chr21:44823479-44873060	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription 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 miRNA target site	68 gene(s)	inside rSNPs	diseases
21	nsv587680	chr21:44827526-44858534	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
22	nsv459284	chr21:44827526-44866913	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv587681	chr21:44827526-44866913	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv459286	chr21:44829058-44866913	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
25	nsv459287	chr21:44829058-44866913	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
26	nsv587682	chr21:44829058-44866913	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
27	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
28	nsv913853	chr21:44831981-44873017	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
29	nsv913854	chr21:44831981-44873060	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
30	nsv913855	chr21:44831981-44873795	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
31	nsv913856	chr21:44831981-44874702	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
32	nsv913857	chr21:44831981-44875495	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
33	nsv913858	chr21:44831981-44877881	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
34	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
35	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
36	nsv913861	chr21:44833854-44848070	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
37	nsv913862	chr21:44833854-44877881	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking 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	70 gene(s)	inside rSNPs	diseases
38	nsv913863	chr21:44834825-44858534	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	47 gene(s)	inside rSNPs	diseases
39	nsv913864	chr21:44834825-44860542	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
40	nsv459288	chr21:44835508-44870150	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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 miRNA target site	62 gene(s)	inside rSNPs	diseases
41	nsv587685	chr21:44835508-44870150	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
42	nsv913865	chr21:44835508-44873017	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
43	nsv913866	chr21:44835508-44874702	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
44	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
45	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
46	nsv913869	chr21:44837555-44871063	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
47	nsv828899	chr21:44838055-44864931	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
48	nsv828900	chr21:44838108-44852908	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
49	nsv828901	chr21:44838108-44873453	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
50	nsv828902	chr21:44839016-44860932	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44836200-44844400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:44839600-44845400	Weak transcription	NHLF	lung
3	chr21:44840800-44844600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr21:44841000-44844600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:44841400-44845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:44841600-44845600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:44841600-44845800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:44841800-44845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:44841800-44845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:44842000-44845000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:44842000-44845000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:44842000-44845200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:44842000-44845600	Weak transcription	Brain Substantia Nigra	brain
14	chr21:44842000-44845800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
15	chr21:44842200-44845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:44842400-44845600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr21:44842400-44845800	Transcr. at gene 5' and 3'	NHEK	skin
18	chr21:44842600-44844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:44842600-44845000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:44842800-44845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:44842800-44845200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:44842800-44845200	Weak transcription	Fetal Thymus	thymus
23	chr21:44842800-44845200	Weak transcription	Spleen	Spleen
24	chr21:44842800-44845600	Weak transcription	K562	blood
25	chr21:44842800-44845800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:44842800-44845800	Active TSS	Psoas Muscle	Psoas
27	chr21:44843000-44847800	Active TSS	GM12878-XiMat	blood
28	chr21:44843400-44845400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:44843800-44844400	Transcr. at gene 5' and 3'	HMEC	breast
30	chr21:44843800-44844600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:44843800-44844600	Strong transcription	Fetal Intestine Large	intestine
32	chr21:44843800-44844600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr21:44843800-44844800	Transcr. at gene 5' and 3'	HSMMtube	muscle
34	chr21:44843800-44845200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr21:44843800-44845200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:44843800-44845400	Transcr. at gene 5' and 3'	Liver	Liver
37	chr21:44843800-44845400	Enhancers	Fetal Heart	heart
38	chr21:44843800-44845600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:44843800-44845600	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr21:44843800-44845800	Active TSS	Lung	lung
41	chr21:44843800-44846000	Transcr. at gene 5' and 3'	A549	lung
42	chr21:44843800-44848000	Active TSS	Duodenum Mucosa	Duodenum
43	chr21:44843800-44848000	Active TSS	Ovary	ovary
44	chr21:44843800-44848200	Active TSS	Fetal Brain Female	brain
45	chr21:44844000-44844400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:44844000-44844400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:44844000-44844400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:44844000-44844400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr21:44844000-44844400	Active TSS	Colon Smooth Muscle	Colon
50	chr21:44844000-44844400	Enhancers	Esophagus	oesophagus

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