Variant report

Variant	rs9980223
Chromosome Location	chr21:48025113-48025114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:48024970-48025344	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr21:48024565-48025534	SK-N-MC	brain:	n/a	n/a
3	EGR1	chr21:48024866-48025287	ECC-1	luminal epithelium:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
4	ELF1	chr21:48024860-48025163	GM12878	blood:	n/a	n/a
5	FOXP2	chr21:48025023-48025439	SK-N-MC	brain:	n/a	n/a
6	EGR1	chr21:48024950-48025231	K562	blood:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
7	EGR1	chr21:48024900-48025237	H1-hESC	embryonic stem cell:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
8	POLR2A	chr21:48024807-48025488	SK-N-MC	brain:	n/a	n/a
9	EGR1	chr21:48024963-48025225	K562	blood:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
10	POLR2A	chr21:48025113-48025134	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48025100-48025150	Jurkat	blood:	n/a
2	chr21:48025100-48025150	IMR90	lung:	fetal
3	chr21:48025100-48025150	HL-60	blood:	n/a
4	chr21:48025100-48025150	HAEpiC	amniotic membrane:	n/a
5	chr21:48025100-48025150	HCPEpiC	choroid plexus:	n/a
6	chr21:48025100-48025150	BJ	skin:	n/a
7	chr21:48025100-48025150	MCF-7	breast:	n/a
8	chr21:48025100-48025150	GM06990	blood:	n/a
9	chr21:48025100-48025150	CMK	blood:	n/a
10	chr21:48025100-48025150	AG09309	skin:	n/a
11	chr21:48025100-48025150	HRE	kidney:	n/a
12	chr21:48025100-48025150	SK-N-SH_RA	brain:	n/a
13	chr21:48025100-48025150	K562	blood:	n/a
14	chr21:48025100-48025150	SKMC	muscle:	n/a
15	chr21:48025100-48025150	HCM	heart:	n/a
16	chr21:48025100-48025150	HepG2	liver:	n/a
17	chr21:48025100-48025150	A549	lung:	n/a
18	chr21:48025100-48025150	GM12892	blood:	n/a
19	chr21:48025100-48025150	HIPEpiC	eye:	n/a
20	chr21:48025100-48025150	PrEC	prostate:	n/a
21	chr21:48025100-48025150	PFSK-1	brain:	n/a
22	chr21:48025100-48025150	SK-N-MC	brain:	n/a
23	chr21:48025100-48025150	Hela-S3	cervix:	n/a
24	chr21:48025100-48025150	NHDF-neo	bronchial:	n/a
25	chr21:48025100-48025150	SAEC	small airway:	n/a
26	chr21:48025100-48025150	GM12878	blood:	n/a
27	chr21:48025100-48025150	MCF10A-Er-Src	breast:	n/a
28	chr21:48025100-48025150	AG09319	gingival:	n/a
29	chr21:48025100-48025150	NT2-D1	testis:	n/a
30	chr21:48025100-48025150	AoSMC	blood vessel:	n/a
31	chr21:48025100-48025150	GM12891	blood:	n/a
32	chr21:48025100-48025150	HPAEpiC	pulmonary alveolar:	n/a
33	chr21:48025100-48025150	Hepatocyte	liver:	n/a
34	chr21:48025100-48025150	GM19239	blood:	n/a
35	chr21:48025100-48025150	H1-hESC	embryonic stem cell:	embryo
36	chr21:48025100-48025150	AG10803	skin:	n/a
37	chr21:48025100-48025150	BE2_C	brain:	n/a
38	chr21:48025100-48025150	U87	brain:	n/a
39	chr21:48025100-48025150	LNCaP	prostate:	n/a
40	chr21:48025100-48025150	HEK293	kidney:	embryo
41	chr21:48025100-48025150	HCT-116	colon:	n/a
42	chr21:48025100-48025150	NH-A	brain:	n/a
43	chr21:48025100-48025150	HUVEC	blood vessel:	n/a
44	chr21:48025100-48025150	AG04450	lung:	fetal
45	chr21:48025100-48025150	RPTEC	kidney:	n/a
46	chr21:48025100-48025150	SK-N-SH	brain:	n/a
47	chr21:48025100-48025150	NB4	blood:	n/a
48	chr21:48025100-48025150	HEEpiC	esophagus:	n/a
49	chr21:48025100-48025150	AG04449	skin:	fetal
50	chr21:48025100-48025150	HNPCEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
2	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:

No data

Variant related genes	Relation type
S100B	TF binding region
S100B	CpG island
ENSG00000160310	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11911621	1.00[EUR][1000 genomes]
rs11911834	1.00[EUR][1000 genomes]
rs2154586	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2839263	0.90[EUR][1000 genomes]
rs2839354	1.00[EUR][1000 genomes]
rs28803288	1.00[EUR][1000 genomes]
rs59374074	1.00[EUR][1000 genomes]
rs61233465	1.00[EUR][1000 genomes]
rs73379572	1.00[EUR][1000 genomes]
rs8132727	1.00[EUR][1000 genomes]
rs8133340	1.00[EUR][1000 genomes]
rs8133385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8134905	1.00[EUR][1000 genomes]
rs9941895	1.00[EUR][1000 genomes]
rs9974760	1.00[EUR][1000 genomes]
rs9975297	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9975589	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9976401	1.00[EUR][1000 genomes]
rs9977065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979271	0.82[EUR][1000 genomes]
rs9980532	1.00[EUR][1000 genomes]
rs9980584	0.82[EUR][1000 genomes]
rs9981125	1.00[EUR][1000 genomes]
rs9983644	1.00[EUR][1000 genomes]
rs9983698	1.00[EUR][1000 genomes]
rs9984699	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	99 gene(s)	inside rSNPs	n/a
4	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
5	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
9	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
10	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
12	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
14	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
17	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking 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 miRNA target site	56 gene(s)	inside rSNPs	n/a
18	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
19	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
20	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a
21	nsv587999	chr21:47941916-48103851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
22	nsv1058589	chr21:47948030-48091343	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
23	nsv1057643	chr21:47953820-48056600	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
24	nsv544497	chr21:47953820-48056600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
25	nsv1056734	chr21:47970933-48096945	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
26	esv2760700	chr21:47974055-48054776	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	n/a
27	nsv1062457	chr21:47975809-48096945	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
28	nsv914148	chr21:47979801-48050388	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
29	nsv1058462	chr21:47980278-48096945	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
30	nsv1060043	chr21:47981878-48048087	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
31	nsv1060740	chr21:47981878-48050534	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
32	nsv1059187	chr21:47981878-48052169	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
33	nsv1066052	chr21:47982925-48050534	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
34	nsv1062401	chr21:47983657-48066477	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
35	nsv1065227	chr21:47985655-48036224	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
36	nsv1061638	chr21:47985655-48088263	Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
37	nsv1059012	chr21:47985655-48096945	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
38	nsv528947	chr21:47986083-48050388	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
39	nsv1066397	chr21:47986670-48050534	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
40	esv2756756	chr21:47986670-48077812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
41	esv2758822	chr21:47986670-48077812	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
42	nsv1055904	chr21:47986670-48096945	Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
43	nsv1064633	chr21:47987013-48096945	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
44	nsv1059493	chr21:47990008-48096945	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
45	nsv1063191	chr21:47992710-48096945	ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
46	nsv459314	chr21:47995443-48072916	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
47	nsv588002	chr21:47995443-48072916	Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
48	nsv1060610	chr21:48004056-48096945	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
49	esv34393	chr21:48015672-48077812	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
50	nsv527542	chr21:48015869-48027880	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48019800-48025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:48022000-48026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:48022600-48025600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:48022800-48025200	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr21:48022800-48025200	Active TSS	Brain Anterior Caudate	brain
6	chr21:48022800-48025200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr21:48022800-48025400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:48022800-48025400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:48023200-48025800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:48023400-48025600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr21:48023800-48025200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:48023800-48025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:48024200-48025800	Enhancers	Fetal Lung	lung
14	chr21:48024400-48025200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr21:48024400-48025600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:48024400-48025800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr21:48024400-48028000	Enhancers	Fetal Thymus	thymus
18	chr21:48024600-48025200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr21:48024600-48025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:48024600-48025200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr21:48024600-48025400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr21:48024600-48025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:48024600-48025600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:48024600-48025600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:48024600-48025600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:48024600-48025600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:48024600-48025800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr21:48024600-48026000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr21:48024600-48026200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:48024600-48026200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:48024600-48026400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:48024600-48028000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr21:48024800-48025400	Enhancers	Primary T cells from cord blood	blood
34	chr21:48024800-48025400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr21:48024800-48025400	Enhancers	Osteobl	bone
36	chr21:48024800-48025600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:48024800-48025600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr21:48024800-48025600	Enhancers	HMEC	breast
39	chr21:48024800-48025800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr21:48024800-48026800	Enhancers	Duodenum Mucosa	Duodenum
41	chr21:48024800-48026800	Enhancers	Fetal Muscle Trunk	muscle
42	chr21:48024800-48026800	Enhancers	Fetal Muscle Leg	muscle
43	chr21:48024800-48027200	Enhancers	Primary B cells from cord blood	blood
44	chr21:48024800-48027200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:48024800-48027200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:48024800-48027600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr21:48024800-48027600	Enhancers	Primary hematopoietic stem cells	blood
48	chr21:48025000-48025200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr21:48025000-48025200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:48025000-48025200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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