Variant report

Variant	rs66472331
Chromosome Location	chr21:45231098-45231099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr21:45229727-45231304	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:45227444-45233850	K562	blood:	n/a	n/a
3	POLR2A	chr21:45227484-45232123	K562	blood:	n/a	n/a
4	CTCF	chr21:45230377-45231428	HCT-116	colon:	n/a	n/a
5	JUN	chr21:45230445-45231391	K562	blood:	n/a	n/a
6	POLR2A	chr21:45230175-45231138	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr21:45229747-45231321	GM12878	blood:	n/a	n/a
8	MAX	chr21:45230377-45231114	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr21:45230582-45231199	K562	blood:	n/a	n/a
10	POLR2A	chr21:45230852-45231105	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr21:45228301-45231287	GM12891	blood:	n/a	n/a
12	PML	chr21:45230448-45231249	GM12878	blood:	n/a	n/a
13	CTCF	chr21:45230414-45231246	MCF-7	breast:	n/a	n/a
14	TEAD4	chr21:45230509-45231104	K562	blood:	n/a	n/a
15	POLR2A	chr21:45227443-45231720	GM12892	blood:	n/a	n/a
16	TFAP2C	chr21:45230637-45231118	Hela-S3	cervix:	n/a	chr21:45230879-45230894
17	POLR2A	chr21:45228765-45232382	GM12891	blood:	n/a	n/a
18	BRCA1	chr21:45230945-45231132	HepG2	liver:	n/a	n/a
19	PAX5	chr21:45230596-45231125	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:45230191-45231176	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr21:45230568-45231690	GM12878	blood:	n/a	n/a
22	RAD21	chr21:45230439-45231408	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr21:45230499-45231103	H1-hESC	embryonic stem cell:	n/a	n/a
24	CUX1	chr21:45230646-45231147	GM12878	blood:	n/a	n/a
25	MYBL2	chr21:45230601-45231123	HepG2	liver:	n/a	n/a
26	POLR2A	chr21:45230114-45231245	GM12878	blood:	n/a	n/a
27	RAD21	chr21:45230395-45231272	HCT-116	colon:	n/a	n/a
28	CTCF	chr21:45230287-45231376	SK-N-SH	brain:	n/a	n/a
29	RCOR1	chr21:45230654-45231161	K562	blood:	n/a	n/a
30	HDAC2	chr21:45230695-45231143	HepG2	liver:	n/a	n/a
31	NR2F2	chr21:45229936-45231263	MCF-7	breast:	n/a	n/a
32	CTCF	chr21:45230561-45231219	HCT-116	colon:	n/a	n/a
33	POLR2A	chr21:45230488-45231205	GM12892	blood:	n/a	n/a
34	POLR2A	chr21:45227647-45232825	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr21:45231029-45231102	GM19239	blood:	n/a	n/a
36	SMC3	chr21:45230482-45231439	SK-N-SH	brain:	n/a	n/a
37	CCNT2	chr21:45230681-45231185	K562	blood:	n/a	n/a
38	HMGN3	chr21:45230504-45231409	K562	blood:	n/a	n/a
39	FOSL2	chr21:45230602-45231153	HepG2	liver:	n/a	n/a
40	CTCF	chr21:45230448-45231211	A549	lung:	n/a	n/a
41	POLR2A	chr21:45230058-45231562	K562	blood:	n/a	n/a
42	POU2F2	chr21:45230651-45231277	GM12891	blood:	n/a	n/a
43	POLR2A	chr21:45227502-45231576	GM12878	blood:	n/a	n/a
44	ZNF263	chr21:45230577-45231111	HEK293-T-REx	kidney:	n/a	n/a
45	MAX	chr21:45230232-45231234	MCF-7	breast:	n/a	n/a
46	NR2F2	chr21:45230088-45231141	K562	blood:	n/a	n/a
47	POLR2A	chr21:45230340-45231330	HL-60	blood:	n/a	n/a
48	RAD21	chr21:45230542-45231141	HepG2	liver:	n/a	n/a
49	POLR2A	chr21:45229763-45231511	GM12878	blood:	n/a	n/a
50	RAD21	chr21:45230477-45231221	MCF-7	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
2	chr21:45230314..45231521-chr21:45358032..45359692,17	K562	blood:
3	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
4	chr21:45230508..45231133-chr21:45349247..45350005,2	MCF-7	breast:
5	chr21:45230369..45231282-chr21:45395339..45396518,7	MCF-7	breast:
6	chr21:45230251..45231814-chr21:45414241..45416500,2	K562	blood:
7	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
8	chr21:45230580..45232122-chr21:45429937..45432486,2	K562	blood:
9	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
10	chr21:45230726..45231265-chr21:45368758..45369723,2	K562	blood:
11	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
12	chr21:45230337..45232483-chr21:45365596..45368025,2	K562	blood:
13	chr21:45230354..45231265-chr21:45395061..45396060,7	K562	blood:
14	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
15	chr21:45230367..45231197-chr21:45361732..45362367,2	K562	blood:
16	chr21:45230951..45231574-chr21:45358755..45359268,2	MCF-7	breast:
17	chr21:45156182..45158069-chr21:45230385..45232004,2	K562	blood:
18	chr21:45230768..45231505-chr21:45337693..45338259,2	K562	blood:
19	chr21:45230529..45232410-chr21:45493973..45496831,2	MCF-7	breast:
20	chr21:45230381..45231220-chr21:45557530..45558478,3	MCF-7	breast:
21	chr21:45230307..45231804-chr21:45394981..45396219,10	MCF-7	breast:
22	chr21:45229004..45230702-chr21:45230841..45232657,2	MCF-7	breast:
23	chr21:45230512..45231278-chr21:45558039..45558702,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000160221	Chromatin interaction
ENSG00000252606	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs2070536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070540	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838381	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838382	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838383	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838388	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838390	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838403	0.84[ASN][1000 genomes]
rs2838406	0.80[ASN][1000 genomes]
rs2838408	0.80[ASN][1000 genomes]
rs2838410	0.80[ASN][1000 genomes]
rs2838415	1.00[AMR][1000 genomes]
rs2838417	1.00[AMR][1000 genomes]
rs2838418	1.00[AMR][1000 genomes]
rs28691645	0.83[ASN][1000 genomes]
rs34016850	0.80[ASN][1000 genomes]
rs34746583	0.84[ASN][1000 genomes]
rs3819607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819613	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57450235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58078050	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58464891	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59461641	0.92[ASN][1000 genomes]
rs61514222	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62229220	0.83[ASN][1000 genomes]
rs62229224	0.92[ASN][1000 genomes]
rs62229227	0.92[ASN][1000 genomes]
rs62229228	0.92[ASN][1000 genomes]
rs66829381	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66850181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67002472	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67083338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67127915	0.92[ASN][1000 genomes]
rs67157971	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67443123	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67883823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224973	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224979	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73224984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73224988	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73367288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367302	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73379004	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73379033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73379037	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73379050	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73379055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73379058	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981647	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv1844567	chr21:45230974-45246326	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:45224600-45232200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
5	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
7	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:45226600-45232200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:45226800-45232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
13	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:45228400-45231800	Enhancers	Liver	Liver
15	chr21:45228600-45231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:45229200-45232600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:45229200-45232800	Enhancers	Ovary	ovary
18	chr21:45229400-45232000	Enhancers	Placenta	Placenta
19	chr21:45229600-45232200	Weak transcription	Thymus	Thymus
20	chr21:45229600-45232800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:45230000-45231600	Enhancers	Primary B cells from cord blood	blood
23	chr21:45230200-45231200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45230200-45231200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:45230200-45231400	Enhancers	K562	blood
26	chr21:45230200-45232400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:45230200-45232800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr21:45230200-45232800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr21:45230200-45233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr21:45230200-45233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr21:45230400-45231200	Enhancers	Primary B cells from peripheral blood	blood
32	chr21:45230400-45231200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr21:45230400-45231200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:45230400-45231200	Enhancers	Fetal Heart	heart
35	chr21:45230400-45231200	Enhancers	Fetal Intestine Large	intestine
36	chr21:45230400-45231200	Enhancers	Pancreas	Pancrea
37	chr21:45230400-45231200	Enhancers	Right Ventricle	heart
38	chr21:45230400-45231400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45230400-45231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:45230400-45232600	Enhancers	Fetal Thymus	thymus
41	chr21:45230400-45232600	Enhancers	Gastric	stomach
42	chr21:45230600-45231200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr21:45230600-45231200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:45230600-45231200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:45230600-45231200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:45230600-45231200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:45230600-45231200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr21:45230600-45231200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr21:45230600-45231200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr21:45230600-45231200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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