Variant report

Variant	nsv933009
Chromosome Location	chr21:47405394-47407195
allele	n/a
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	CTCF	chr21:47406300-47406450	WERI-Rb-1	eye:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
2	CTCF	chr21:47406240-47406390	AG09309	skin:	n/a	chr21:47406333-47406346
3	CTCF	chr21:47406342-47406512	HepG2	liver:	n/a	chr21:47406420-47406438
4	CTCF	chr21:47406113-47406737	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406610-47406623 chr21:47406333-47406346
5	CTCF	chr21:47406280-47406530	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
6	CTCF	chr21:47406440-47406590	K562	blood:	n/a	n/a
7	CTCF	chr21:47406407-47406444	MCF-7	breast:	n/a	chr21:47406420-47406438
8	CTCF	chr21:47406351-47406507	K562	blood:	n/a	chr21:47406420-47406438
9	CTCF	chr21:47406320-47406470	HVMF	connective:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
10	CTCF	chr21:47406324-47406535	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
11	CTCF	chr21:47406192-47406591	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
12	CTCF	chr21:47405780-47405930	AG09309	skin:	n/a	chr21:47405838-47405851
13	CTCF	chr21:47406227-47406574	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
14	CTCF	chr21:47406220-47406370	K562	blood:	n/a	chr21:47406333-47406346
15	CTCF	chr21:47405860-47406010	AG09319	gingival:	n/a	chr21:47405949-47405962
16	CTCF	chr21:47406360-47406510	HepG2	liver:	n/a	chr21:47406420-47406438
17	MAX	chr21:47407140-47407412	K562	blood:	n/a	n/a
18	MYC	chr21:47407133-47407372	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:47407143-47407153	MCF-7	breast:	n/a	n/a
20	POLR2A	chr21:47406016-47406129	ProgFib	skin:	n/a	n/a
21	POLR2A	chr21:47405294-47405420	IMR90	lung:	n/a	n/a
22	POLR2A	chr21:47407119-47407421	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:47405934-47405948	ProgFib	skin:	n/a	n/a
24	POLR2A	chr21:47407156-47407339	MCF-7	breast:	n/a	n/a
25	POLR2A	chr21:47405399-47405426	ProgFib	skin:	n/a	n/a
26	RAD21	chr21:47406323-47406483	K562	blood:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
27	RAD21	chr21:47406279-47406458	K562	blood:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
28	RAD21	chr21:47406338-47406509	H1-hESC	embryonic stem cell:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
29	RAD21	chr21:47406294-47406504	HepG2	liver:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
30	RAD21	chr21:47406297-47406543	SK-N-SH_RA	brain:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
31	RAD21	chr21:47406289-47406594	H1-hESC	embryonic stem cell:	n/a	chr21:47406420-47406432 chr21:47406421-47406434 chr21:47406418-47406437
32	ZNF143	chr21:47404505-47405434	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47406806-47406856	HMEC	breast:	n/a
2	chr21:47405786-47405836	AG04450	lung:	fetal
3	chr21:47406806-47406856	PrEC	prostate:	n/a
4	chr21:47405667-47405717	HMEC	breast:	n/a
5	chr21:47405667-47405717	PrEC	prostate:	n/a
6	chr21:47405786-47405836	BJ	skin:	n/a
7	chr21:47406806-47406856	Caco-2	colon:	n/a
8	chr21:47405786-47405836	MCF10A-Er-Src	breast:	n/a
9	chr21:47405786-47405836	T-47D	breast:	n/a
10	chr21:47405667-47405717	K562	blood:	n/a
11	chr21:47405786-47405836	GM12891	blood:	n/a
12	chr21:47405667-47405717	HEEpiC	esophagus:	n/a
13	chr21:47406806-47406856	MCF10A-Er-Src	breast:	n/a
14	chr21:47405786-47405836	NB4	blood:	n/a
15	chr21:47405667-47405717	GM06990	blood:	n/a
16	chr21:47405786-47405836	SK-N-MC	brain:	n/a
17	chr21:47405786-47405836	CMK	blood:	n/a
18	chr21:47405667-47405717	NB4	blood:	n/a
19	chr21:47406806-47406856	SKMC	muscle:	n/a
20	chr21:47405786-47405836	HIPEpiC	eye:	n/a
21	chr21:47406806-47406856	NT2-D1	testis:	n/a
22	chr21:47405786-47405836	NH-A	brain:	n/a
23	chr21:47406806-47406856	HRPEpiC	eye:	n/a
24	chr21:47406806-47406856	ProgFib	skin:	n/a
25	chr21:47405786-47405836	NHDF-neo	bronchial:	n/a
26	chr21:47405667-47405717	HAEpiC	amniotic membrane:	n/a
27	chr21:47405667-47405717	MCF10A-Er-Src	breast:	n/a
28	chr21:47405786-47405836	MCF-7	breast:	n/a
29	chr21:47405667-47405717	SKMC	muscle:	n/a
30	chr21:47405786-47405836	RPTEC	kidney:	n/a
31	chr21:47405667-47405717	GM12891	blood:	n/a
32	chr21:47405667-47405717	Hepatocyte	liver:	n/a
33	chr21:47405667-47405717	GM19239	blood:	n/a
34	chr21:47405786-47405836	AG04449	skin:	fetal
35	chr21:47405786-47405836	GM06990	blood:	n/a
36	chr21:47405667-47405717	SAEC	small airway:	n/a
37	chr21:47405786-47405836	GM19239	blood:	n/a
38	chr21:47405667-47405717	ProgFib	skin:	n/a
39	chr21:47406806-47406856	PFSK-1	brain:	n/a
40	chr21:47405667-47405717	GM12878	blood:	n/a
41	chr21:47405786-47405836	PrEC	prostate:	n/a
42	chr21:47406806-47406856	HIPEpiC	eye:	n/a
43	chr21:47405786-47405836	ProgFib	skin:	n/a
44	chr21:47406806-47406856	GM12892	blood:	n/a
45	chr21:47406806-47406856	H1-hESC	embryonic stem cell:	embryo
46	chr21:47406806-47406856	IMR90	lung:	fetal
47	chr21:47405786-47405836	GM12878	blood:	n/a
48	chr21:47405786-47405836	Hepatocyte	liver:	n/a
49	chr21:47406806-47406856	GM12891	blood:	n/a
50	chr21:47405786-47405836	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
2	chr21:47402572..47405446-chr21:47518065..47519578,2	MCF-7	breast:
3	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-2	chr21:47407023-47407433	NONHSAT083006

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island
ENSG00000142173	chromatin interactions
ENSG00000142156	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531080064	chr21:47405447-47405448	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs386819387	chr21:47405449-47405450	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs35383442	chr21:47405450-47405451	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139589794	chr21:47405495-47405496	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs559166860	chr21:47405523-47405524	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs112883647	chr21:47405533-47405534	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs538431676	chr21:47405578-47405579	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528931261	chr21:47405579-47405580	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs386819388	chr21:47405589-47405590	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs1076608	chr21:47405593-47405594	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73159603	chr21:47405598-47405599	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147626530	chr21:47405626-47405627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs560311121	chr21:47405643-47405644	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs572030558	chr21:47405659-47405660	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs114314938	chr21:47405661-47405662	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs74386218	chr21:47405693-47405694	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs531545859	chr21:47405787-47405788	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs549930426	chr21:47405791-47405792	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs561571560	chr21:47405823-47405824	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs149085625	chr21:47405840-47405841	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370835537	chr21:47405843-47405844	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528269646	chr21:47405851-47405852	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs143188263	chr21:47405869-47405870	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566636116	chr21:47405873-47405874	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533888719	chr21:47405875-47405876	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11702430	chr21:47405876-47405877	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs140453198	chr21:47405899-47405900	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571116251	chr21:47405900-47405901	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs79367854	chr21:47405911-47405912	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556696960	chr21:47405926-47405927	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575058921	chr21:47405940-47405941	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536065811	chr21:47405982-47405983	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs553856338	chr21:47405985-47405986	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs572216786	chr21:47406026-47406027	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375517245	chr21:47406060-47406061	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373747386	chr21:47406073-47406074	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112372160	chr21:47406091-47406092	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs185955970	chr21:47406094-47406095	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73374777	chr21:47406109-47406110	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73374779	chr21:47406119-47406120	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529016757	chr21:47406154-47406155	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113990069	chr21:47406164-47406165	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560211455	chr21:47406188-47406189	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs527824726	chr21:47406189-47406190	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552528559	chr21:47406200-47406201	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181338884	chr21:47406203-47406204	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111793415	chr21:47406215-47406216	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531753512	chr21:47406249-47406250	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs9983909	chr21:47406256-47406257	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145622476	chr21:47406267-47406268	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47401200-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:47402200-47406200	Transcr. at gene 5' and 3'	NHLF	lung
3	chr21:47402400-47405400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:47402600-47405400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:47402600-47405600	Transcr. at gene 5' and 3'	Osteobl	bone
6	chr21:47402800-47406000	Weak transcription	Liver	Liver
7	chr21:47402800-47406000	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:47402800-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
10	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
12	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr21:47403400-47405400	Weak transcription	Fetal Brain Female	brain
14	chr21:47403400-47406000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:47403400-47406000	Genic enhancers	Spleen	Spleen
16	chr21:47403600-47405800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:47403600-47406800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
19	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
20	chr21:47403800-47405600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr21:47403800-47405600	Genic enhancers	Fetal Stomach	stomach
22	chr21:47404000-47405600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
23	chr21:47404000-47406400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr21:47404000-47407600	Genic enhancers	Placenta	Placenta
25	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
27	chr21:47404200-47405400	Strong transcription	Esophagus	oesophagus
28	chr21:47404200-47405600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:47404200-47405800	Strong transcription	HSMMtube	muscle
30	chr21:47404200-47406200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
31	chr21:47404200-47406200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr21:47404200-47406600	Strong transcription	Right Ventricle	heart
33	chr21:47404200-47407400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47404200-47407600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:47404200-47407600	Genic enhancers	Ovary	ovary
36	chr21:47404200-47407600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
37	chr21:47404200-47407800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:47404200-47407800	Strong transcription	Brain Germinal Matrix	brain
39	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr21:47404400-47407200	Strong transcription	Gastric	stomach
43	chr21:47404400-47407600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:47404400-47407600	Genic enhancers	Rectal Smooth Muscle	rectum
45	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
46	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
48	chr21:47404600-47405400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:47404600-47405400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
50	chr21:47404600-47407600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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