Variant report

Variant	rs8133482
Chromosome Location	chr21:47600192-47600193
allele	A/G
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	EP300	chr21:47599955-47600515	K562	blood:	n/a	chr21:47600032-47600041
2	CCNT2	chr21:47599662-47600295	K562	blood:	n/a	n/a
3	RCOR1	chr21:47599696-47600618	K562	blood:	n/a	n/a
4	MAX	chr21:47600183-47600730	NB4	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
5	MAZ	chr21:47599867-47600901	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600726-47600736 chr21:47600372-47600383 chr21:47600369-47600384
6	POLR2A	chr21:47599936-47600412	K562	blood:	n/a	n/a
7	ZMIZ1	chr21:47600085-47600645	K562	blood:	n/a	n/a
8	TEAD4	chr21:47599916-47600689	K562	blood:	n/a	n/a
9	POLR2A	chr21:47599725-47601350	HL-60	blood:	n/a	n/a
10	BHLHE40	chr21:47599878-47600783	K562	blood:	n/a	chr21:47600024-47600040
11	USF1	chr21:47600134-47600443	K562	blood:	n/a	n/a
12	POLR2A	chr21:47599587-47600782	K562	blood:	n/a	n/a
13	GATA1	chr21:47599973-47600327	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
14	TBL1XR1	chr21:47600061-47600391	K562	blood:	n/a	n/a
15	MYC	chr21:47599988-47600733	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
16	MAX	chr21:47599978-47600707	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
17	POLR2A	chr21:47600016-47600472	K562	blood:	n/a	n/a
18	GATA2	chr21:47599690-47600373	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
19	TBL1XR1	chr21:47599850-47600506	K562	blood:	n/a	n/a
20	HMGN3	chr21:47599649-47600231	K562	blood:	n/a	chr21:47600131-47600138
21	HCFC1	chr21:47599976-47600292	K562	blood:	n/a	n/a
22	UBTF	chr21:47599723-47600682	K562	blood:	n/a	n/a
23	POLR2A	chr21:47599472-47600842	K562	blood:	n/a	n/a
24	ZC3H11A	chr21:47600007-47600497	K562	blood:	n/a	n/a
25	JUND	chr21:47600031-47600656	K562	blood:	n/a	n/a
26	MAX	chr21:47599894-47600819	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600726-47600736 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
27	MAX	chr21:47600152-47600793	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600726-47600736 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
28	GATA2	chr21:47599905-47600260	K562	blood:	n/a	chr21:47600129-47600141 chr21:47600132-47600142 chr21:47600132-47600139 chr21:47600130-47600139 chr21:47600130-47600140
29	MYC	chr21:47600188-47600738	NB4	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600726-47600736 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381
30	POLR2A	chr21:47599485-47600749	K562	blood:	n/a	n/a
31	MYC	chr21:47599929-47600747	K562	blood:	n/a	chr21:47600372-47600383 chr21:47600373-47600382 chr21:47600371-47600386 chr21:47600375-47600382 chr21:47600372-47600382 chr21:47600726-47600736 chr21:47600372-47600383 chr21:47600369-47600384 chr21:47600371-47600381

No.	Distal block	Cell Line	Cell type
1	chr21:47572549..47576001-chr21:47599228..47602499,3	MCF-7	breast:
2	chr21:47573796..47576021-chr21:47598325..47600385,2	K562	blood:
3	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
4	chr21:47599873..47602213-chr21:47649234..47651649,2	K562	blood:
5	chr21:47591887..47593806-chr21:47599783..47602845,3	K562	blood:
6	chr21:47599317..47602217-chr21:47649153..47650672,2	K562	blood:
7	chr21:47584368..47587107-chr21:47598667..47601448,3	MCF-7	breast:
8	chr21:47594311..47596914-chr21:47599495..47600996,2	K562	blood:
9	chr21:47598526..47600624-chr21:47604926..47607198,2	K562	blood:

Variant related genes	Relation type
ENSG00000228404	TF binding region
ENSG00000160282	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000228404	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6518275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
2	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
4	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
6	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	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
8	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
9	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
10	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
11	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	n/a
12	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
13	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
14	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
15	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
16	nsv914098	chr21:47467894-47619784	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
17	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
18	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
19	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription 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	21 gene(s)	inside rSNPs	n/a
20	nsv914106	chr21:47514885-47603465	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
21	nsv914107	chr21:47514885-47605335	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
22	nsv914108	chr21:47514885-47609677	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
23	nsv914114	chr21:47526240-47605335	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
24	nsv914115	chr21:47526240-47614469	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
25	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
26	nsv914120	chr21:47538960-47605335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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 lncRNA	14 gene(s)	inside rSNPs	n/a
27	nsv914124	chr21:47550754-47603465	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
28	nsv914127	chr21:47558994-47603465	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
29	nsv914128	chr21:47558994-47609677	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
30	nsv914129	chr21:47566828-47609677	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
31	nsv914131	chr21:47572244-47609677	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
32	nsv914132	chr21:47572244-47619784	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
33	nsv587954	chr21:47582102-47603465	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
34	esv1836991	chr21:47583506-47603902	Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
35	nsv914133	chr21:47583506-47613486	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription 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	13 gene(s)	inside rSNPs	n/a
36	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
37	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
38	esv1816243	chr21:47588465-47603973	ZNF genes & repeats Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
39	esv1824913	chr21:47588465-47603973	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
40	esv1822235	chr21:47588465-47610305	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
41	esv1838468	chr21:47589099-47603953	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
42	esv1835687	chr21:47589099-47605335	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
43	esv1838471	chr21:47589099-47605335	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
44	nsv587959	chr21:47589313-47603902	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
45	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
46	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
47	nsv587963	chr21:47592268-47603747	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
48	nsv587964	chr21:47599913-47603902	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47573600-47600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr21:47573600-47602000	Weak transcription	Gastric	stomach
3	chr21:47573800-47602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:47573800-47603800	Weak transcription	Right Atrium	heart
5	chr21:47581400-47602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:47581600-47600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:47582000-47602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:47582000-47602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:47582000-47602800	Weak transcription	Ovary	ovary
10	chr21:47582400-47600200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:47582400-47603800	Weak transcription	Thymus	Thymus
12	chr21:47583000-47602800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:47588600-47602800	Weak transcription	Lung	lung
14	chr21:47589000-47600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr21:47594200-47603800	Weak transcription	Fetal Intestine Small	intestine
16	chr21:47596800-47600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:47596800-47603000	Weak transcription	Brain Hippocampus Middle	brain
18	chr21:47597200-47602800	Weak transcription	Right Ventricle	heart
19	chr21:47597200-47603800	Weak transcription	Fetal Brain Female	brain
20	chr21:47598000-47600200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:47598000-47602800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr21:47598000-47603000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:47598000-47603400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:47598600-47603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:47599200-47602800	Weak transcription	Pancreas	Pancrea
26	chr21:47599400-47600600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:47599400-47600800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:47599600-47600600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:47599600-47601400	Strong transcription	Fetal Muscle Leg	muscle
30	chr21:47599600-47601600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:47599600-47602800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:47599600-47603000	Strong transcription	Fetal Stomach	stomach
33	chr21:47599800-47600200	Flanking Active TSS	HepG2	liver
34	chr21:47599800-47600400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:47599800-47600800	Transcr. at gene 5' and 3'	K562	blood
36	chr21:47599800-47601400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:47599800-47601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:47600000-47600600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
39	chr21:47600000-47600800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells	blood
41	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr21:47600000-47601000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:47600000-47601200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr21:47600000-47601600	Bivalent Enhancer	Placenta	Placenta

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