Variant report

Variant	nsv587938
Chromosome Location	chr21:47412703-47419012
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	chr21:47413780-47413930	AG10803	skin:	n/a	n/a
2	CTCF	chr21:47413820-47413970	AG09309	skin:	n/a	n/a
3	CTCF	chr21:47413720-47413870	HMF	breast:	n/a	n/a
4	ELK1	chr21:47416359-47416364	Hela-S3	cervix:	n/a	n/a
5	FOS	chr21:47415587-47415767	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
6	FOS	chr21:47415635-47415835	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
7	FOS	chr21:47415684-47415766	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
8	FOS	chr21:47415690-47415791	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
9	FOSL2	chr21:47415476-47415885	HepG2	liver:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
10	HMGN3	chr21:47414247-47414393	K562	blood:	n/a	n/a
11	MAX	chr21:47413797-47413962	K562	blood:	n/a	chr21:47413911-47413920 chr21:47413909-47413919 chr21:47413909-47413918 chr21:47413910-47413917 chr21:47413905-47413920
12	MAX	chr21:47415218-47415342	HepG2	liver:	n/a	n/a
13	MAX	chr21:47413748-47414132	K562	blood:	n/a	chr21:47413911-47413920 chr21:47413909-47413919 chr21:47413909-47413918 chr21:47413772-47413781 chr21:47413910-47413917 chr21:47413905-47413920
14	MYC	chr21:47414725-47414853	MCF-7	breast:	n/a	n/a
15	POLR2A	chr21:47416212-47416351	ProgFib	skin:	n/a	n/a
16	POLR2A	chr21:47414088-47414134	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr21:47412056-47412767	U87	brain:	n/a	n/a
18	POLR2A	chr21:47416940-47417296	U87	brain:	n/a	n/a
19	POLR2A	chr21:47416934-47417319	U87	brain:	n/a	n/a
20	POLR2A	chr21:47418896-47419275	U87	brain:	n/a	n/a
21	POLR2A	chr21:47413713-47413722	K562	blood:	n/a	n/a
22	POLR2A	chr21:47413998-47414030	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr21:47415324-47415649	IMR90	lung:	n/a	n/a
24	POLR2A	chr21:47416141-47416799	U87	brain:	n/a	n/a
25	POLR2A	chr21:47417571-47418099	U87	brain:	n/a	n/a
26	POLR2A	chr21:47414331-47414420	ProgFib	skin:	n/a	n/a
27	POLR2A	chr21:47415959-47416107	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr21:47417458-47418105	U87	brain:	n/a	n/a
29	POLR2A	chr21:47414651-47415065	U87	brain:	n/a	n/a
30	POLR2A	chr21:47416112-47416895	U87	brain:	n/a	n/a
31	POLR2A	chr21:47414701-47414866	ProgFib	skin:	n/a	n/a
32	POLR2A	chr21:47413988-47415114	U87	brain:	n/a	n/a
33	POLR2A	chr21:47411966-47412871	U87	brain:	n/a	n/a
34	RAD21	chr21:47415673-47415705	IMR90	lung:	n/a	n/a
35	RFX5	chr21:47415585-47415741	HepG2	liver:	n/a	n/a
36	UBTF	chr21:47414407-47414507	K562	blood:	n/a	n/a
37	UBTF	chr21:47413665-47413731	K562	blood:	n/a	n/a
38	UBTF	chr21:47417807-47417936	K562	blood:	n/a	n/a
39	USF1	chr21:47415503-47415953	ECC-1	luminal epithelium:	n/a	chr21:47415694-47415705
40	USF1	chr21:47415611-47415841	A549	lung:	n/a	chr21:47415694-47415705
41	USF1	chr21:47415590-47415752	K562	blood:	n/a	chr21:47415694-47415705
42	USF1	chr21:47415562-47415876	SK-N-SH	brain:	n/a	chr21:47415694-47415705
43	USF1	chr21:47415465-47415961	ECC-1	luminal epithelium:	n/a	chr21:47415694-47415705
44	USF1	chr21:47415549-47415807	HepG2	liver:	n/a	chr21:47415694-47415705
45	USF1	chr21:47415552-47415775	SK-N-SH_RA	brain:	n/a	chr21:47415694-47415705
46	USF1	chr21:47415383-47416006	HCT-116	colon:	n/a	chr21:47415694-47415705
47	USF1	chr21:47415618-47415799	A549	lung:	n/a	chr21:47415694-47415705
48	USF1	chr21:47415234-47415988	HCT-116	colon:	n/a	chr21:47415275-47415291 chr21:47415694-47415705
49	USF1	chr21:47415570-47415782	A549	lung:	n/a	chr21:47415694-47415705
50	USF1	chr21:47415620-47415781	HepG2	liver:	n/a	chr21:47415694-47415705

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47418282-47418332	GM12892	blood:	n/a
2	chr21:47418282-47418332	SK-N-SH	brain:	n/a
3	chr21:47418282-47418332	HPAEpiC	pulmonary alveolar:	n/a
4	chr21:47418282-47418332	HUVEC	blood vessel:	n/a
5	chr21:47418282-47418332	MCF10A-Er-Src	breast:	n/a
6	chr21:47418282-47418332	PANC-1	pancreas:	n/a
7	chr21:47418282-47418332	BJ	skin:	n/a
8	chr21:47418282-47418332	PFSK-1	brain:	n/a
9	chr21:47418282-47418332	SKMC	muscle:	n/a
10	chr21:47418282-47418332	Caco-2	colon:	n/a
11	chr21:47418282-47418332	PrEC	prostate:	n/a
12	chr21:47418282-47418332	K562	blood:	n/a
13	chr21:47418282-47418332	RPTEC	kidney:	n/a
14	chr21:47418282-47418332	NHBE	bronchial:	n/a
15	chr21:47418282-47418332	CMK	blood:	n/a
16	chr21:47418282-47418332	HepG2	liver:	n/a
17	chr21:47418282-47418332	U87	brain:	n/a
18	chr21:47418282-47418332	BE2_C	brain:	n/a
19	chr21:47418282-47418332	HRPEpiC	eye:	n/a
20	chr21:47418282-47418332	AG04449	skin:	fetal
21	chr21:47418282-47418332	AoSMC	blood vessel:	n/a
22	chr21:47418282-47418332	SAEC	small airway:	n/a
23	chr21:47418282-47418332	HCPEpiC	choroid plexus:	n/a
24	chr21:47418282-47418332	NH-A	brain:	n/a
25	chr21:47418282-47418332	ECC-1	luminal epithelium:	n/a
26	chr21:47418282-47418332	Hepatocyte	liver:	n/a
27	chr21:47418282-47418332	HEEpiC	esophagus:	n/a
28	chr21:47418282-47418332	AG09319	gingival:	n/a
29	chr21:47418282-47418332	ProgFib	skin:	n/a
30	chr21:47418282-47418332	AG09309	skin:	n/a
31	chr21:47418282-47418332	HRE	kidney:	n/a
32	chr21:47418282-47418332	NT2-D1	testis:	n/a
33	chr21:47418282-47418332	T-47D	breast:	n/a
34	chr21:47418282-47418332	MCF-7	breast:	n/a
35	chr21:47418282-47418332	A549	lung:	n/a
36	chr21:47418282-47418332	HNPCEpiC	eye:	n/a
37	chr21:47418282-47418332	IMR90	lung:	fetal
38	chr21:47418282-47418332	HCT-116	colon:	n/a
39	chr21:47418282-47418332	ovcar-3	ovarian:	n/a
40	chr21:47418282-47418332	HL-60	blood:	n/a
41	chr21:47418282-47418332	Jurkat	blood:	n/a
42	chr21:47418282-47418332	LNCaP	prostate:	n/a
43	chr21:47418282-47418332	NHDF-neo	bronchial:	n/a
44	chr21:47418282-47418332	H1-hESC	embryonic stem cell:	embryo
45	chr21:47418282-47418332	NB4	blood:	n/a
46	chr21:47418282-47418332	HRCEpiC	kidney:	n/a
47	chr21:47418282-47418332	HCF	heart:	n/a
48	chr21:47418282-47418332	HAEpiC	amniotic membrane:	n/a
49	chr21:47418282-47418332	GM12891	blood:	n/a
50	chr21:47418282-47418332	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
2	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
3	chr21:47416853..47418859-chr21:47421399..47424312,2	K562	blood:
4	chr21:47415907..47418450-chr21:47418722..47421230,2	MCF-7	breast:
5	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
6	chr21:46961078..46962785-chr21:47417789..47420284,2	K562	blood:
7	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
8	chr21:47411553..47415297-chr21:47415530..47420389,6	K562	blood:

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island
ENSG00000173638	chromatin interactions
ENSG00000142156	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7279254	chr21:47412703-47412704	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368239109	chr21:47412704-47412705	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35059000	chr21:47412705-47412706	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113693262	chr21:47412726-47412727	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9306146	chr21:47412744-47412745	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2850173	chr21:47412751-47412752	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550593745	chr21:47412788-47412789	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556897762	chr21:47412805-47412806	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2075893	chr21:47412840-47412841	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536513841	chr21:47412863-47412864	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537882864	chr21:47412871-47412872	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143550568	chr21:47412888-47412889	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566910791	chr21:47412890-47412891	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9976759	chr21:47412891-47412892	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558681383	chr21:47412900-47412901	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116133651	chr21:47412909-47412910	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544212419	chr21:47412917-47412918	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528150505	chr21:47412934-47412935	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574395361	chr21:47412935-47412936	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369857779	chr21:47412942-47412943	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148964327	chr21:47412949-47412950	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181234780	chr21:47412950-47412951	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34225244	chr21:47412964-47412965	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527449294	chr21:47412972-47412973	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545631642	chr21:47412981-47412982	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565020459	chr21:47413016-47413017	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2742071	chr21:47413085-47413086	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550680587	chr21:47413091-47413092	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76293757	chr21:47413105-47413106	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530115833	chr21:47413145-47413146	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375819470	chr21:47413177-47413178	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2776407	chr21:47413269-47413270	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567198748	chr21:47413286-47413287	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143704669	chr21:47413300-47413301	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148152790	chr21:47413326-47413327	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185352242	chr21:47413338-47413339	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189481710	chr21:47413392-47413393	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112169406	chr21:47413396-47413397	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575255571	chr21:47413415-47413416	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535438319	chr21:47413437-47413438	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182114569	chr21:47413453-47413454	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572337014	chr21:47413461-47413462	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112783839	chr21:47413480-47413481	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186711734	chr21:47413501-47413502	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562482625	chr21:47413518-47413519	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575844067	chr21:47413522-47413523	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544258542	chr21:47413526-47413527	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563003149	chr21:47413531-47413532	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530037270	chr21:47413536-47413537	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35104412	chr21:47413548-47413549	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
4	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
6	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
8	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
13	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
14	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
15	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
23	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:47405600-47413200	Strong transcription	Osteobl	bone
25	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
26	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:47405800-47414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr21:47407000-47414400	Strong transcription	Fetal Intestine Large	intestine
31	chr21:47407400-47413800	Weak transcription	HSMM	muscle
32	chr21:47407600-47414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr21:47407600-47416400	Weak transcription	Esophagus	oesophagus
34	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr21:47408200-47412800	Strong transcription	Right Ventricle	heart
36	chr21:47408400-47416400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:47408400-47416800	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:47408600-47415400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:47408600-47419800	Strong transcription	Brain Germinal Matrix	brain
41	chr21:47408800-47414400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:47408800-47417800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr21:47409000-47414000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr21:47409200-47415400	Genic enhancers	NHDF-Ad	bronchial
46	chr21:47409200-47425000	Strong transcription	Ovary	ovary
47	chr21:47409400-47415200	Strong transcription	Lung	lung
48	chr21:47409400-47416400	Strong transcription	Fetal Lung	lung
49	chr21:47409400-47419400	Strong transcription	Gastric	stomach
50	chr21:47409600-47414400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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