Variant report

Variant	nsv587708
Chromosome Location	chr21:45159512-45163689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:184)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr21:45160710-45160988	A549	lung:	n/a	chr21:45160849-45160862
2	BACH1	chr21:45161393-45161618	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr21:45160396-45161112	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr21:45159769-45160260	A549	lung:	n/a	chr21:45159789-45159802
5	BCL3	chr21:45160274-45161086	A549	lung:	n/a	chr21:45160409-45160418
6	CBX3	chr21:45159315-45159743	K562	blood:	n/a	n/a
7	CREB1	chr21:45160660-45161034	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr21:45160649-45161059	A549	lung:	n/a	n/a
9	CTCF	chr21:45161360-45161510	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr21:45161420-45161570	SK-N-SH_RA	brain:	n/a	n/a
11	EGR1	chr21:45161354-45161563	K562	blood:	n/a	n/a
12	FOXP2	chr21:45160693-45161032	PFSK-1	brain:	n/a	n/a
13	GABPA	chr21:45160433-45161012	H1-hESC	embryonic stem cell:	n/a	n/a
14	HDAC2	chr21:45160497-45161092	MCF-7	breast:	n/a	n/a
15	HDAC2	chr21:45160746-45161027	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr21:45161305-45161678	A549	lung:	n/a	n/a
17	JUND	chr21:45159628-45161057	A549	lung:	n/a	chr21:45159685-45159693
18	MAX	chr21:45159521-45159842	K562	blood:	n/a	n/a
19	MAX	chr21:45159587-45161125	A549	lung:	n/a	chr21:45160229-45160238
20	MAX	chr21:45160547-45161027	A549	lung:	n/a	n/a
21	MAX	chr21:45160778-45160868	Hela-S3	cervix:	n/a	n/a
22	MAX	chr21:45159534-45159722	A549	lung:	n/a	n/a
23	MAX	chr21:45160424-45161055	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr21:45163403-45163419	MCF-7	breast:	n/a	n/a
25	MYC	chr21:45163423-45163427	MCF-7	breast:	n/a	n/a
26	NFIC	chr21:45160497-45161076	ECC-1	luminal epithelium:	n/a	n/a
27	NR3C1	chr21:45163483-45163792	A549	lung:	n/a	n/a
28	POLR2A	chr21:45160739-45160946	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:45160770-45161041	A549	lung:	n/a	n/a
30	POLR2A	chr21:45159971-45160273	A549	lung:	n/a	n/a
31	POLR2A	chr21:45161491-45161559	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr21:45159885-45159904	K562	blood:	n/a	n/a
33	POLR2A	chr21:45159792-45160451	HepG2	liver:	n/a	n/a
34	POLR2A	chr21:45162829-45163520	A549	lung:	n/a	n/a
35	POLR2A	chr21:45162890-45163504	A549	lung:	n/a	n/a
36	POLR2A	chr21:45159742-45160313	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:45160707-45161011	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:45161303-45162007	A549	lung:	n/a	n/a
39	POLR2A	chr21:45160296-45160625	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45161377-45163006	A549	lung:	n/a	n/a
41	POLR2A	chr21:45160465-45160475	MCF-7	breast:	n/a	n/a
42	POLR2A	chr21:45159866-45160862	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr21:45159026-45160653	GM12878	blood:	n/a	n/a
44	POLR2A	chr21:45161717-45162013	K562	blood:	n/a	n/a
45	POLR2A	chr21:45163029-45163037	HepG2	liver:	n/a	n/a
46	POLR2A	chr21:45159461-45159735	GM12878	blood:	n/a	n/a
47	POLR2A	chr21:45160278-45160635	A549	lung:	n/a	n/a
48	POLR2A	chr21:45161742-45161956	A549	lung:	n/a	n/a
49	POLR2A	chr21:45160140-45160531	GM12891	blood:	n/a	n/a
50	POLR2A	chr21:45160345-45160365	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45161415-45161465	Caco-2	colon:	n/a
2	chr21:45161415-45161465	Caco-2	colon:	n/a
3	chr21:45161415-45161465	GM12891	blood:	n/a
4	chr21:45163611-45163661	MCF-7	breast:	n/a
5	chr21:45161415-45161465	SK-N-SH_RA	brain:	n/a
6	chr21:45163611-45163661	ECC-1	luminal epithelium:	n/a
7	chr21:45161415-45161465	GM12892	blood:	n/a
8	chr21:45161415-45161465	HIPEpiC	eye:	n/a
9	chr21:45161415-45161465	HRPEpiC	eye:	n/a
10	chr21:45163611-45163661	K562	blood:	n/a
11	chr21:45161359-45161409	HRE	kidney:	n/a
12	chr21:45163611-45163661	AG04450	lung:	fetal
13	chr21:45161415-45161465	CMK	blood:	n/a
14	chr21:45161415-45161465	NB4	blood:	n/a
15	chr21:45161415-45161465	HEEpiC	esophagus:	n/a
16	chr21:45161415-45161465	U87	brain:	n/a
17	chr21:45161415-45161465	PANC-1	pancreas:	n/a
18	chr21:45161359-45161409	BE2_C	brain:	n/a
19	chr21:45161415-45161465	HRCEpiC	kidney:	n/a
20	chr21:45163611-45163661	AG10803	skin:	n/a
21	chr21:45163611-45163661	IMR90	lung:	fetal
22	chr21:45161359-45161409	U87	brain:	n/a
23	chr21:45161415-45161465	HUVEC	blood vessel:	n/a
24	chr21:45161415-45161465	AG10803	skin:	n/a
25	chr21:45161359-45161409	ProgFib	skin:	n/a
26	chr21:45163611-45163661	HMEC	breast:	n/a
27	chr21:45163611-45163661	SAEC	small airway:	n/a
28	chr21:45161415-45161465	MCF-7	breast:	n/a
29	chr21:45161359-45161409	PrEC	prostate:	n/a
30	chr21:45161415-45161465	HEK293	kidney:	embryo
31	chr21:45161359-45161409	SK-N-MC	brain:	n/a
32	chr21:45161359-45161409	RPTEC	kidney:	n/a
33	chr21:45161415-45161465	AoSMC	blood vessel:	n/a
34	chr21:45161359-45161409	HPAEpiC	pulmonary alveolar:	n/a
35	chr21:45163611-45163661	HAEpiC	amniotic membrane:	n/a
36	chr21:45161415-45161465	NH-A	brain:	n/a
37	chr21:45161415-45161465	H1-hESC	embryonic stem cell:	embryo
38	chr21:45161415-45161465	IMR90	lung:	fetal
39	chr21:45161359-45161409	HIPEpiC	eye:	n/a
40	chr21:45161415-45161465	HAEpiC	amniotic membrane:	n/a
41	chr21:45161415-45161465	K562	blood:	n/a
42	chr21:45161415-45161465	NT2-D1	testis:	n/a
43	chr21:45161359-45161409	NHDF-neo	bronchial:	n/a
44	chr21:45161415-45161465	PrEC	prostate:	n/a
45	chr21:45161359-45161409	AG04450	lung:	fetal
46	chr21:45161359-45161409	HepG2	liver:	n/a
47	chr21:45163611-45163661	GM06990	blood:	n/a
48	chr21:45161359-45161409	ECC-1	luminal epithelium:	n/a
49	chr21:45161359-45161409	AG04449	skin:	fetal
50	chr21:45161415-45161465	BJ	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45163023..45165790-chr21:45170856..45174314,3	K562	blood:
2	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:
3	chr21:45162810..45165204-chr21:45175505..45178426,2	K562	blood:
4	chr21:45138760..45141316-chr21:45163664..45165255,2	K562	blood:
5	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
6	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
7	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
8	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
9	chr21:45162810..45165195-chr21:45176926..45179048,2	K562	blood:
10	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
11	chr21:45156014..45158647-chr21:45159074..45160757,2	K562	blood:
12	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:

No data

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160213	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 282 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142174783	chr21:45159640-45159641	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs570781449	chr21:45159643-45159644	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538194791	chr21:45159649-45159650	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs368937685	chr21:45159683-45159684	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs574149822	chr21:45159694-45159695	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs371976003	chr21:45159709-45159710	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188774946	chr21:45159742-45159743	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs151204815	chr21:45159774-45159775	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs535640205	chr21:45159786-45159787	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs191010345	chr21:45159789-45159790	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs373082579	chr21:45159804-45159805	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs572628195	chr21:45159863-45159864	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540279265	chr21:45159865-45159866	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558279837	chr21:45159869-45159870	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs376892457	chr21:45159890-45159891	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs139189213	chr21:45159895-45159896	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544229530	chr21:45159924-45159925	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546682123	chr21:45159930-45159931	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562785010	chr21:45159931-45159932	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs557034213	chr21:45159933-45159934	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs112642322	chr21:45159934-45159935	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145322383	chr21:45159961-45159962	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs147664892	chr21:45159978-45159979	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs142346478	chr21:45159989-45159990	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs57983053	chr21:45159998-45159999	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182721942	chr21:45160003-45160004	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs572031943	chr21:45160012-45160013	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188209905	chr21:45160024-45160025	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs116960023	chr21:45160040-45160041	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs377421864	chr21:45160056-45160057	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535719826	chr21:45160062-45160063	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs146467610	chr21:45160072-45160073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs145772340	chr21:45160077-45160078	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs533693885	chr21:45160079-45160080	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs7277641	chr21:45160087-45160088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs576794569	chr21:45160091-45160092	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544209639	chr21:45160094-45160095	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs2299807	chr21:45160099-45160100	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs574784613	chr21:45160129-45160130	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs184266653	chr21:45160139-45160140	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs148971534	chr21:45160140-45160141	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs143753744	chr21:45160148-45160149	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs546007227	chr21:45160154-45160155	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs564590980	chr21:45160211-45160212	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs544768501	chr21:45160229-45160230	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs2299808	chr21:45160231-45160232	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
47	rs568067343	chr21:45160232-45160233	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs187407915	chr21:45160237-45160238	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547677157	chr21:45160238-45160239	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs78148659	chr21:45160249-45160250	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45149800-45160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
11	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
12	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Large	intestine
17	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Small	intestine
18	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:45152400-45163800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
21	chr21:45153600-45163800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:45154000-45167000	Weak transcription	Small Intestine	intestine
23	chr21:45154200-45163400	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:45154200-45163800	Weak transcription	NHDF-Ad	bronchial
25	chr21:45154400-45160400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:45154400-45160600	Strong transcription	Fetal Stomach	stomach
27	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45154600-45164200	Weak transcription	Brain Substantia Nigra	brain
29	chr21:45154800-45164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45155000-45160600	Strong transcription	NHEK	skin
32	chr21:45155000-45161400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:45155000-45161400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:45155000-45163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr21:45155000-45164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:45155200-45160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:45155200-45160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:45155200-45160200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr21:45155200-45160400	Weak transcription	Left Ventricle	heart
40	chr21:45155200-45161600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:45155200-45163600	Weak transcription	Fetal Lung	lung
42	chr21:45155200-45169200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr21:45155400-45161600	Weak transcription	Osteobl	bone
44	chr21:45155400-45163400	Weak transcription	HSMMtube	muscle
45	chr21:45155400-45163600	Weak transcription	Stomach Mucosa	stomach
46	chr21:45155400-45164200	Weak transcription	HSMM	muscle
47	chr21:45155400-45164200	Weak transcription	NH-A	brain
48	chr21:45155800-45161600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:45156000-45162000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45156000-45163600	Weak transcription	Fetal Thymus	thymus

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