Variant report

Variant	rs229348
Chromosome Location	chr21:44850760-44850761
allele	G/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	RELA	chr21:44850196-44851377	GM15510	blood:	n/a	n/a
2	POLR2A	chr21:44850186-44851453	GM19099	blood:	n/a	n/a
3	POLR2A	chr21:44850147-44851290	GM18505	blood:	n/a	n/a
4	ZNF143	chr21:44850532-44850921	GM12878	blood:	n/a	n/a
5	MAFK	chr21:44850665-44850885	HepG2	liver:	n/a	n/a
6	EBF1	chr21:44850369-44851391	GM12878	blood:	n/a	chr21:44851217-44851226 chr21:44850822-44850833 chr21:44851216-44851226
7	RELA	chr21:44850303-44851327	GM18951	blood:	n/a	n/a
8	EP300	chr21:44850375-44850872	GM12878	blood:	n/a	n/a
9	MYC	chr21:44850213-44851126	NB4	blood:	n/a	n/a
10	POLR2A	chr21:44850228-44851003	GM12892	blood:	n/a	n/a
11	TBL1XR1	chr21:44850634-44850796	GM12878	blood:	n/a	n/a
12	RELA	chr21:44850182-44851303	GM19099	blood:	n/a	n/a
13	ZNF263	chr21:44850614-44851034	HEK293-T-REx	kidney:	n/a	n/a
14	FOXM1	chr21:44850311-44850998	GM12878	blood:	n/a	n/a
15	EBF1	chr21:44850591-44850984	GM12878	blood:	n/a	chr21:44850822-44850833
16	NFIC	chr21:44850633-44851344	ECC-1	luminal epithelium:	n/a	n/a
17	RELA	chr21:44850218-44851321	GM19193	blood:	n/a	n/a
18	MXI1	chr21:44850270-44851130	GM12878	blood:	n/a	n/a
19	MAX	chr21:44850328-44851170	GM12878	blood:	n/a	chr21:44851119-44851128
20	EBF1	chr21:44850490-44851334	GM12878	blood:	n/a	chr21:44851217-44851226 chr21:44850822-44850833 chr21:44851216-44851226
21	MAFK	chr21:44850637-44850849	HepG2	liver:	n/a	n/a
22	EP300	chr21:44850357-44850899	GM12878	blood:	n/a	n/a
23	MAX	chr21:44849749-44851341	NB4	blood:	n/a	chr21:44851119-44851128
24	MAZ	chr21:44850435-44850787	GM12878	blood:	n/a	n/a
25	BCLAF1	chr21:44850550-44850993	GM12878	blood:	n/a	chr21:44850676-44850685 chr21:44850714-44850723
26	CTCF	chr21:44850700-44850850	GM12872	blood:	n/a	n/a
27	NFIC	chr21:44850567-44851467	ECC-1	luminal epithelium:	n/a	n/a
28	NFIC	chr21:44850608-44851070	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:44850713-44850810	HepG2	liver:	n/a	n/a
30	POLR2A	chr21:44850192-44851389	GM19193	blood:	n/a	n/a
31	POLR2A	chr21:44850172-44851369	GM18951	blood:	n/a	n/a
32	PAX5	chr21:44850232-44850929	GM12878	blood:	n/a	n/a
33	MAX	chr21:44850610-44851580	MCF-7	breast:	n/a	chr21:44851119-44851128
34	BHLHE40	chr21:44850191-44850912	GM12878	blood:	n/a	n/a
35	RUNX3	chr21:44850218-44851013	GM12878	blood:	n/a	n/a
36	RUNX3	chr21:44850130-44851468	GM12878	blood:	n/a	n/a
37	ELF1	chr21:44850096-44851009	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:44850230-44851164	GM15510	blood:	n/a	n/a
39	TCF12	chr21:44850636-44850926	GM12878	blood:	n/a	n/a
40	IKZF1	chr21:44850444-44851011	GM12878	blood:	n/a	n/a
41	MTA3	chr21:44849892-44851383	GM12878	blood:	n/a	n/a
42	MAFF	chr21:44850682-44850882	HepG2	liver:	n/a	n/a
43	POLR2A	chr21:44850209-44851012	NB4	blood:	n/a	n/a
44	CHD2	chr21:44850574-44850857	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44850547..44853679-chr21:44861256..44863290,3	MCF-7	breast:
2	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
3	chr21:44850311..44852792-chr21:45138302..45140722,2	MCF-7	breast:
4	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
5	chr21:44849473..44851982-chr21:44934028..44935946,2	MCF-7	breast:
6	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
7	chr21:44849005..44851028-chr21:44877473..44879496,2	MCF-7	breast:
8	chr21:44778568..44780302-chr21:44848836..44851138,2	MCF-7	breast:

Variant related genes	Relation type
SIK1	TF binding region
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs128543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162351	0.83[EUR][1000 genomes]
rs162352	0.82[EUR][1000 genomes]
rs162355	0.89[EUR][1000 genomes]
rs162360	0.87[EUR][1000 genomes]
rs162363	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162364	0.82[ASN][1000 genomes]
rs162365	0.83[ASN][1000 genomes]
rs172959	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs229351	0.89[EUR][1000 genomes]
rs229353	0.88[CEU][hapmap];0.93[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492340	1.00[CEU][hapmap]
rs657978	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	nsv828903	chr21:44839803-44864931	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
48	nsv587686	chr21:44848070-44871189	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
49	nsv913870	chr21:44848070-44875495	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44847400-44852000	Enhancers	Placenta	Placenta
2	chr21:44847600-44851200	Weak transcription	Gastric	stomach
3	chr21:44848000-44850800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:44848000-44851800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:44848000-44852000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:44848000-44861400	Weak transcription	Colonic Mucosa	Colon
7	chr21:44848200-44850800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:44848200-44851400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:44848200-44852000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:44848200-44852000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:44848200-44855800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:44848200-44862800	Weak transcription	Right Atrium	heart
13	chr21:44848400-44851400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr21:44848600-44850800	Weak transcription	HSMM	muscle
15	chr21:44848600-44850800	Weak transcription	HSMMtube	muscle
16	chr21:44848600-44852000	Enhancers	A549	lung
17	chr21:44848600-44853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:44848600-44856000	Weak transcription	Fetal Intestine Small	intestine
19	chr21:44848800-44851200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:44848800-44851400	Enhancers	Liver	Liver
21	chr21:44849000-44851400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:44849200-44850800	Weak transcription	Esophagus	oesophagus
23	chr21:44849200-44850800	Weak transcription	Fetal Brain Female	brain
24	chr21:44849200-44852400	Weak transcription	Ovary	ovary
25	chr21:44849400-44851600	Enhancers	Hela-S3	cervix
26	chr21:44849400-44852000	Weak transcription	HUVEC	blood vessel
27	chr21:44849800-44851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:44849800-44851200	Weak transcription	Adipose Nuclei	Adipose
29	chr21:44849800-44851200	Weak transcription	Fetal Lung	lung
30	chr21:44849800-44851400	Enhancers	Primary B cells from cord blood	blood
31	chr21:44849800-44851400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr21:44849800-44852200	Enhancers	Pancreas	Pancrea
33	chr21:44850000-44850800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:44850200-44850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:44850200-44850800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr21:44850200-44850800	Enhancers	Lung	lung
37	chr21:44850200-44851000	Enhancers	Fetal Thymus	thymus
38	chr21:44850200-44851400	Flanking Active TSS	GM12878-XiMat	blood
39	chr21:44850200-44851600	Enhancers	Spleen	Spleen
40	chr21:44850200-44852000	Enhancers	Stomach Mucosa	stomach
41	chr21:44850400-44850800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr21:44850400-44850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:44850400-44850800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:44850400-44851000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr21:44850400-44851600	Enhancers	Fetal Intestine Large	intestine
46	chr21:44850400-44852000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:44850600-44850800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr21:44850600-44851000	Enhancers	Right Ventricle	heart
49	chr21:44850600-44851000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr21:44850600-44851000	Enhancers	Dnd41	blood

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