Variant report

Variant	rs60054163
Chromosome Location	chr21:44842716-44842717
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	POLR2A	chr21:44831432-44842933	HepG2	liver:	n/a	n/a
2	TBP	chr21:44842554-44842902	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr21:44842354-44842851	A549	lung:	n/a	n/a
4	POLR2A	chr21:44840205-44843146	MCF10A-Er-Src	breast:	n/a	n/a
5	CHD2	chr21:44842525-44842812	Hela-S3	cervix:	n/a	n/a
6	PBX3	chr21:44842579-44842725	GM12878	blood:	n/a	n/a
7	FOXA2	chr21:44842429-44842848	A549	lung:	n/a	n/a
8	POLR2A	chr21:44842144-44842844	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr21:44842372-44842814	A549	lung:	n/a	n/a
10	RFX5	chr21:44842433-44842824	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr21:44842383-44842875	A549	lung:	n/a	n/a
12	POLR2A	chr21:44842062-44843109	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr21:44842430-44842858	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:44831686-44843055	Hela-S3	cervix:	n/a	n/a
15	BCL3	chr21:44842341-44842988	A549	lung:	n/a	n/a
16	REST	chr21:44841977-44842982	A549	lung:	n/a	n/a
17	EP300	chr21:44842255-44842958	A549	lung:	n/a	chr21:44842908-44842922
18	ATF3	chr21:44842312-44842894	A549	lung:	n/a	n/a
19	TCF7L2	chr21:44842640-44842847	Hela-S3	cervix:	n/a	chr21:44842810-44842826 chr21:44842814-44842821 chr21:44842811-44842825 chr21:44842813-44842822 chr21:44842814-44842824 chr21:44842814-44842823
20	GATA3	chr21:44841418-44843142	A549	lung:	n/a	n/a
21	POLR2A	chr21:44842644-44842906	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr21:44842068-44842816	GM12878	blood:	n/a	n/a
23	JUND	chr21:44842086-44842883	A549	lung:	n/a	n/a
24	POLR2A	chr21:44831096-44848845	Hela-S3	cervix:	n/a	n/a
25	SIN3AK20	chr21:44842576-44842891	A549	lung:	n/a	n/a
26	GTF2F1	chr21:44842574-44842885	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr21:44842194-44842821	A549	lung:	n/a	n/a
28	POLR2A	chr21:44842181-44842812	A549	lung:	n/a	n/a
29	POLR2A	chr21:44842412-44842851	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr21:44830257-44843687	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr21:44827963-44846612	A549	lung:	n/a	n/a
32	CHD1	chr21:44833143-44843083	IMR90	lung:	n/a	n/a
33	RFX5	chr21:44842522-44842743	HepG2	liver:	n/a	n/a
34	TAF1	chr21:44842296-44844595	A549	lung:	n/a	n/a
35	POLR2A	chr21:44838548-44842915	IMR90	lung:	n/a	n/a
36	FOXA2	chr21:44842533-44842971	A549	lung:	n/a	n/a
37	POLR2A	chr21:44842131-44842768	HepG2	liver:	n/a	n/a
38	REST	chr21:44842409-44842860	A549	lung:	n/a	n/a
39	MXI1	chr21:44842470-44842816	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr21:44842710-44842747	A549	lung:	n/a	n/a
41	SP1	chr21:44842384-44843015	A549	lung:	n/a	n/a
42	SP1	chr21:44842104-44843734	A549	lung:	n/a	chr21:44843377-44843386 chr21:44843376-44843386 chr21:44843375-44843387 chr21:44843375-44843387 chr21:44843376-44843385 chr21:44843376-44843385 chr21:44843376-44843386
43	POLR2A	chr21:44842184-44842863	A549	lung:	n/a	n/a
44	TCF12	chr21:44829995-44843145	A549	lung:	n/a	chr21:44831252-44831259 chr21:44840047-44840057 chr21:44839618-44839625 chr21:44832174-44832184 chr21:44839177-44839187 chr21:44840840-44840850
45	SMC3	chr21:44842582-44842794	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr21:44842041-44842883	GM12878	blood:	n/a	n/a
47	BCL3	chr21:44842472-44843063	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105629634..105630197-chr21:44842387..44843356,2	Hela-S3	cervix:
2	chr21:44593265..44594962-chr21:44842242..44844162,2	K562	blood:
3	chr17:7388016..7388727-chr21:44842203..44843108,2	Hela-S3	cervix:
4	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:

Variant related genes	Relation type
SIK1	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000188660	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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838302	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56265008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56796001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57684950	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58117343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291524	1.00[ASN][1000 genomes]
rs58732746	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58751812	1.00[ASN][1000 genomes]
rs58901188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59151119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60022979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60066227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60567075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61279087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696572	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73380285	1.00[ASN][1000 genomes]
rs73380290	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762390	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44831400-44844000	Weak transcription	Right Atrium	heart
2	chr21:44833200-44844000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:44833600-44842800	Transcr. at gene 5' and 3'	A549	lung
4	chr21:44834000-44842800	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:44834000-44843800	Strong transcription	Liver	Liver
6	chr21:44834400-44843400	Strong transcription	Fetal Stomach	stomach
7	chr21:44834800-44844000	Weak transcription	Fetal Kidney	kidney
8	chr21:44835200-44844000	Weak transcription	NH-A	brain
9	chr21:44835400-44842800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:44835600-44842800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr21:44835800-44843000	Strong transcription	Thymus	Thymus
12	chr21:44835800-44844000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:44836000-44842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:44836000-44842800	Strong transcription	Fetal Thymus	thymus
15	chr21:44836000-44843200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:44836000-44843400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:44836000-44843800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:44836000-44844000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr21:44836000-44844200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:44836200-44844000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:44836200-44844400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:44836400-44844000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:44836400-44844000	Strong transcription	Fetal Intestine Small	intestine
24	chr21:44836600-44843800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:44837000-44842800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:44837000-44843000	Transcr. at gene 5' and 3'	Hela-S3	cervix
27	chr21:44837200-44842800	Strong transcription	Primary T cells from cord blood	blood
28	chr21:44837400-44842800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:44837600-44842800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr21:44837800-44842800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr21:44838800-44843000	Transcr. at gene 5' and 3'	HSMM	muscle
32	chr21:44839200-44842800	Strong transcription	Spleen	Spleen
33	chr21:44839600-44845400	Weak transcription	NHLF	lung
34	chr21:44840400-44842800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:44840400-44844000	Weak transcription	Small Intestine	intestine
36	chr21:44840600-44842800	Strong transcription	Fetal Muscle Leg	muscle
37	chr21:44840800-44843800	Genic enhancers	HSMMtube	muscle
38	chr21:44840800-44844600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr21:44841000-44843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:44841000-44844000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:44841000-44844000	Weak transcription	Brain Angular Gyrus	brain
42	chr21:44841000-44844200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:44841000-44844600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:44841200-44843800	Strong transcription	HMEC	breast
45	chr21:44841200-44844000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:44841200-44844000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:44841400-44842800	Genic enhancers	Pancreas	Pancrea
48	chr21:44841400-44843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:44841400-44843800	Weak transcription	Fetal Brain Male	brain
50	chr21:44841400-44845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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