Variant report

Variant	rs7280558
Chromosome Location	chr21:45577102-45577103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
2	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:
3	chr21:45573023..45575397-chr21:45576610..45579323,3	K562	blood:
4	chr21:45571309..45577111-chr21:45620650..45624145,5	MCF-7	breast:
5	chr21:45576440..45578362-chr21:45598205..45599792,2	K562	blood:
6	chr21:45575692..45578304-chr21:45583075..45585227,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICOSLG-6	chr21:45576307-45578657	XLOC_014110

No data

Variant related genes	Relation type
ENSG00000232124	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1005046	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1051981	0.88[TSI][hapmap]
rs11089115	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1131999	0.83[ASW][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs11700972	0.84[JPT][hapmap]
rs12627239	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs13046297	0.90[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs13049059	0.93[GIH][hapmap];0.89[JPT][hapmap]
rs1858665	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2020945	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap]
rs2020946	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2020948	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2071142	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap]
rs2071143	0.82[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.94[TSI][hapmap]
rs2071146	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2071152	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs2073432	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2073433	0.90[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2156428	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2187313	0.91[TSI][hapmap]
rs2238704	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs2238707	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2238711	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs2242950	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2242953	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2242954	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2243999	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap]
rs2245380	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2245386	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2245462	0.88[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap]
rs2245759	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2247400	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2251267	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs2255716	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2255828	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs2256441	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs2276530	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2277805	0.88[TSI][hapmap]
rs2277806	0.83[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap]
rs2299812	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2299815	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2299820	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2516519	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2516521	1.00[CHB][hapmap]
rs2838468	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838472	0.84[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap]
rs2838473	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838476	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs2838477	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838478	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2838482	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838483	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838485	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838486	0.83[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];0.82[TSI][hapmap]
rs2838488	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838489	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838490	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap]
rs2838491	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.94[TSI][hapmap]
rs2838492	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838493	0.83[CEU][hapmap]
rs2838494	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2838496	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2838502	0.88[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs2838503	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap]
rs2838508	0.88[TSI][hapmap]
rs2838509	0.87[TSI][hapmap]
rs2838511	0.85[CEU][hapmap]
rs2838512	0.81[GIH][hapmap]
rs28547944	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs4818881	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819366	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819376	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];0.91[TSI][hapmap]
rs4819378	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819383	0.90[CEU][hapmap]
rs4819384	0.83[JPT][hapmap]
rs6518345	0.84[CHB][hapmap]
rs71326035	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277269	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs7279727	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7281768	0.83[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs729882	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs756554	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs756555	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs7676	0.88[TSI][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8126958	0.88[CHB][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap]
rs885872	0.88[TSI][hapmap]
rs915772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs915774	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs915878	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9306171	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap]
rs9306172	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs968714	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs9975708	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9981257	1.00[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription 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 lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats 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
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7280558	PWP2	cis	lymphoblastoid	seeQTL
rs7280558	ABCG1	cis	cerebellum	SCAN
rs7280558	PWP2	cis	parietal	SCAN
rs7280558	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs7280558	TRAPPC10	cis	cerebellum	SCAN
rs7280558	PWP2	cis	Muscle Skeletal	GTEx
rs7280558	C21orf33	cis	parietal	SCAN
rs7280558	ITGB2	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45570600-45577400	Enhancers	Primary B cells from cord blood	blood
4	chr21:45571000-45582600	Weak transcription	Ovary	ovary
5	chr21:45572400-45577400	Enhancers	Fetal Thymus	thymus
6	chr21:45572800-45577400	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45573000-45577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:45573000-45579400	Enhancers	Spleen	Spleen
9	chr21:45573200-45577200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr21:45573600-45579400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:45573600-45580000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:45573800-45577200	Enhancers	Brain Hippocampus Middle	brain
13	chr21:45573800-45577600	Enhancers	Colonic Mucosa	Colon
14	chr21:45573800-45578000	Enhancers	Placenta	Placenta
15	chr21:45573800-45580400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45574000-45578000	Enhancers	Esophagus	oesophagus
17	chr21:45574000-45579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:45574000-45579400	Weak transcription	Small Intestine	intestine
19	chr21:45574400-45577200	Enhancers	Brain Substantia Nigra	brain
20	chr21:45574600-45579400	Weak transcription	Pancreas	Pancrea
21	chr21:45575200-45577800	Enhancers	Adipose Nuclei	Adipose
22	chr21:45575200-45579400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:45575400-45577600	Enhancers	Duodenum Mucosa	Duodenum
24	chr21:45575400-45577600	Enhancers	Stomach Smooth Muscle	stomach
25	chr21:45575400-45578800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:45575400-45579000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:45575400-45579400	Weak transcription	Liver	Liver
28	chr21:45575400-45580200	Weak transcription	NHLF	lung
29	chr21:45575400-45580400	Weak transcription	NHDF-Ad	bronchial
30	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
32	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
33	chr21:45575600-45577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:45575600-45577200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr21:45575600-45578000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr21:45575600-45579000	Weak transcription	Brain Anterior Caudate	brain
37	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:45575800-45577200	Enhancers	Primary B cells from peripheral blood	blood
39	chr21:45575800-45577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:45575800-45577600	Weak transcription	Right Atrium	heart
41	chr21:45575800-45579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:45575800-45579200	Weak transcription	Brain Angular Gyrus	brain
43	chr21:45575800-45579200	Weak transcription	Fetal Intestine Small	intestine
44	chr21:45575800-45579400	Weak transcription	Gastric	stomach
45	chr21:45575800-45579400	Weak transcription	HSMM	muscle
46	chr21:45576000-45578400	Enhancers	Fetal Muscle Leg	muscle
47	chr21:45576000-45579000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:45576000-45579000	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:45576000-45579000	Weak transcription	HSMMtube	muscle
50	chr21:45576000-45579200	Weak transcription	Fetal Heart	heart

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