Variant report

Variant	rs2238711
Chromosome Location	chr21:45453956-45453957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45453079..45455479-chr21:45471617..45474018,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1051981	0.83[TSI][hapmap]
rs10854489	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11089115	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1131999	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12627239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13046297	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs13049059	0.95[GIH][hapmap];1.00[JPT][hapmap]
rs13050630	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1858665	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2020945	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2020946	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2020947	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2020948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2039272	0.82[ASN][1000 genomes]
rs2071142	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2071143	0.94[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2071146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2071154	0.87[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2073432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2073433	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2156428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187313	0.81[TSI][hapmap]
rs2238704	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238705	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238706	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238708	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238709	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238710	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238712	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2242953	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2242954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2243348	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2243999	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2245372	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2245386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251267	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2255828	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2255922	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2256392	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256441	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277805	0.83[TSI][hapmap]
rs2277806	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs2299812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299813	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2299816	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2299818	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516521	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838466	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2838467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838471	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838472	1.00[ASW][hapmap];0.93[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2838474	0.94[ASN][1000 genomes]
rs2838476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838480	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838481	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838486	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2838488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838490	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2838491	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2838492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838496	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2838502	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs2838503	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs2850150	0.82[ASN][1000 genomes]
rs28859288	0.91[ASN][1000 genomes]
rs35610725	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788097	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788098	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788101	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788102	0.87[EUR][1000 genomes]
rs4818878	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818881	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819370	0.83[ASN][1000 genomes]
rs4819372	0.81[ASN][1000 genomes]
rs4819376	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4819378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56384549	0.93[ASN][1000 genomes]
rs59675192	0.87[EUR][1000 genomes]
rs6518345	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7277269	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7280558	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs7281270	0.82[ASN][1000 genomes]
rs7281768	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7281778	0.97[ASN][1000 genomes]
rs7282643	1.00[ASN][1000 genomes]
rs729882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756554	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs756555	0.82[CHB][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8126754	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126958	0.88[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8129971	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132918	0.83[ASN][1000 genomes]
rs8133422	0.94[ASN][1000 genomes]
rs8133610	0.83[ASN][1000 genomes]
rs915772	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs915774	0.95[GIH][hapmap]
rs915878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9306169	0.87[EUR][1000 genomes]
rs9306171	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306172	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306174	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs965733	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs968714	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs9974165	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974315	0.94[ASN][1000 genomes]
rs9975708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975978	0.89[ASN][1000 genomes]
rs9977564	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9978130	0.97[ASN][1000 genomes]
rs9981257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9982663	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2238711	PWP2	cis	lymphoblastoid	seeQTL
rs2238711	PWP2	cis	Muscle Skeletal	GTEx
rs2238711	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445200-45454400	Weak transcription	A549	lung
2	chr21:45445200-45454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:45445200-45457800	Weak transcription	Small Intestine	intestine
4	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
5	chr21:45445400-45454400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:45445400-45454600	Weak transcription	Colonic Mucosa	Colon
7	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:45445800-45457800	Weak transcription	Gastric	stomach
9	chr21:45445800-45458200	Weak transcription	HSMMtube	muscle
10	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
11	chr21:45446200-45454200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:45446200-45454400	Weak transcription	Colon Smooth Muscle	Colon
13	chr21:45446200-45454600	Weak transcription	NHLF	lung
14	chr21:45446400-45454600	Weak transcription	Fetal Kidney	kidney
15	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
16	chr21:45446600-45454600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr21:45447000-45454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:45447400-45454400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:45447600-45454600	Weak transcription	Ovary	ovary
21	chr21:45448600-45454600	Weak transcription	Psoas Muscle	Psoas
22	chr21:45449800-45454600	Weak transcription	Brain Angular Gyrus	brain
23	chr21:45449800-45457400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:45450000-45457000	Weak transcription	Right Ventricle	heart
25	chr21:45450600-45461400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45450800-45455400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:45450800-45461200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:45451000-45454600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45451000-45458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:45451000-45461200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
32	chr21:45451400-45454000	Weak transcription	Brain Germinal Matrix	brain
33	chr21:45451400-45456400	Strong transcription	K562	blood
34	chr21:45451400-45459200	Strong transcription	Hela-S3	cervix
35	chr21:45451400-45459200	Strong transcription	NHEK	skin
36	chr21:45451400-45460200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr21:45451400-45460600	Strong transcription	Primary B cells from cord blood	blood
38	chr21:45451400-45460600	Strong transcription	Primary T cells from cord blood	blood
39	chr21:45451400-45460600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:45451400-45460800	Strong transcription	Fetal Intestine Large	intestine
41	chr21:45451400-45460800	Strong transcription	Fetal Stomach	stomach
42	chr21:45451400-45461200	Strong transcription	Liver	Liver
43	chr21:45451400-45461200	Strong transcription	Dnd41	blood
44	chr21:45451400-45461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:45451600-45460800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45451600-45460800	Strong transcription	Fetal Thymus	thymus
47	chr21:45451800-45455400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:45451800-45460400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:45451800-45460600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr21:45451800-45460800	Strong transcription	Primary T cells fromperipheralblood	blood

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