Variant report

Variant	esv3438950
Chromosome Location	chr21:45729224-45733422
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	BCL3	chr21:45730865-45731497	GM12878	blood:	n/a	n/a
2	BCL3	chr21:45730871-45731692	GM12878	blood:	n/a	n/a
3	CTCF	chr21:45730633-45730796	GM19238	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
4	CTCF	chr21:45730660-45730810	GM12869	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
5	CTCF	chr21:45730640-45730790	WERI-Rb-1	eye:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
6	CTCF	chr21:45730640-45730790	GM12875	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
7	CTCF	chr21:45731126-45731203	GM19239	blood:	n/a	n/a
8	CTCF	chr21:45730555-45730893	GM12878	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
9	CTCF	chr21:45730620-45730770	GM12874	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
10	CTCF	chr21:45730600-45730750	NB4	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
11	CTCF	chr21:45730640-45730790	GM12872	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
12	CTCF	chr21:45730620-45730770	Caco-2	colon:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
13	CTCF	chr21:45730620-45730770	GM12873	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
14	CTCF	chr21:45730600-45730750	GM12878	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
15	CTCF	chr21:45730640-45730790	AG09309	skin:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
16	CTCF	chr21:45730600-45730750	SK-N-SH_RA	brain:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
17	CTCF	chr21:45730600-45730750	AG04450	lung:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
18	CTCF	chr21:45730740-45730890	GM12868	blood:	n/a	n/a
19	CTCF	chr21:45730720-45730870	GM06990	blood:	n/a	n/a
20	CTCF	chr21:45731231-45731232	GM19239	blood:	n/a	n/a
21	CTCF	chr21:45730580-45730730	HFF-Myc	foreskin:	n/a	chr21:45730716-45730729
22	CTCF	chr21:45730660-45730810	GM12872	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
23	CTCF	chr21:45730646-45730754	GM10248	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
24	CTCF	chr21:45730620-45730801	GM12891	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
25	CTCF	chr21:45730651-45730784	GM19239	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
26	CTCF	chr21:45730640-45730790	HUVEC	blood vessel:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
27	CTCF	chr21:45730580-45730730	GM12864	blood:	n/a	chr21:45730716-45730729
28	CTCF	chr21:45730680-45730830	GM12873	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
29	CTCF	chr21:45730591-45730813	K562	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
30	CTCF	chr21:45730600-45730750	GM12865	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
31	CTCF	chr21:45730636-45730792	GM12892	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
32	CTCF	chr21:45730698-45730776	H1-hESC	embryonic stem cell:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
33	CTCF	chr21:45730660-45730810	K562	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
34	CTCF	chr21:45730640-45730790	HBMEC	blood vessel:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
35	CTCF	chr21:45730660-45730810	HBMEC	blood vessel:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
36	CTCF	chr21:45730640-45730790	HepG2	liver:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
37	CTCF	chr21:45730640-45730790	HCPEpiC	choroid plexus:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
38	CTCF	chr21:45730620-45730770	HFF-Myc	foreskin:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
39	CTCF	chr21:45730600-45730750	GM12867	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
40	CTCF	chr21:45730543-45730952	K562	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
41	CTCF	chr21:45730640-45730790	GM06990	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
42	CTCF	chr21:45730560-45730710	GM12867	blood:	n/a	n/a
43	CTCF	chr21:45730620-45730770	GM12875	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
44	CTCF	chr21:45730580-45730730	GM12868	blood:	n/a	chr21:45730716-45730729
45	CTCF	chr21:45730640-45730790	GM12869	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
46	CTCF	chr21:45730640-45730790	GM12866	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
47	CTCF	chr21:45730638-45730786	GM19240	blood:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
48	CTCF	chr21:45730660-45730810	HEK293	kidney:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
49	CTCF	chr21:45730600-45730750	BE2_C	brain:	n/a	chr21:45730716-45730729 chr21:45730713-45730731
50	CTCF	chr21:45730640-45730790	A549	lung:	n/a	chr21:45730716-45730729 chr21:45730713-45730731

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45730236-45730286	GM19239	blood:	n/a
2	chr21:45730236-45730286	GM19239	blood:	n/a
3	chr21:45730731-45730781	CMK	blood:	n/a
4	chr21:45730236-45730286	AoSMC	blood vessel:	n/a
5	chr21:45730224-45730274	HEEpiC	esophagus:	n/a
6	chr21:45730224-45730274	RPTEC	kidney:	n/a
7	chr21:45730224-45730274	LNCaP	prostate:	n/a
8	chr21:45729326-45729376	K562	blood:	n/a
9	chr21:45730731-45730781	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:45729326-45729376	A549	lung:	n/a
11	chr21:45730731-45730781	T-47D	breast:	n/a
12	chr21:45730731-45730781	U87	brain:	n/a
13	chr21:45730224-45730274	HPAEpiC	pulmonary alveolar:	n/a
14	chr21:45730236-45730286	AG10803	skin:	n/a
15	chr21:45730236-45730286	NT2-D1	testis:	n/a
16	chr21:45730236-45730286	ovcar-3	ovarian:	n/a
17	chr21:45730236-45730286	SAEC	small airway:	n/a
18	chr21:45730236-45730286	HCPEpiC	choroid plexus:	n/a
19	chr21:45730236-45730286	SKMC	muscle:	n/a
20	chr21:45730236-45730286	Jurkat	blood:	n/a
21	chr21:45729326-45729376	ProgFib	skin:	n/a
22	chr21:45729326-45729376	HEEpiC	esophagus:	n/a
23	chr21:45730236-45730286	T-47D	breast:	n/a
24	chr21:45729326-45729376	RPTEC	kidney:	n/a
25	chr21:45730731-45730781	HMEC	breast:	n/a
26	chr21:45729326-45729376	Hepatocyte	liver:	n/a
27	chr21:45730731-45730781	NB4	blood:	n/a
28	chr21:45729326-45729376	AG04450	lung:	fetal
29	chr21:45730731-45730781	HCM	heart:	n/a
30	chr21:45729326-45729376	CMK	blood:	n/a
31	chr21:45730236-45730286	HPAEpiC	pulmonary alveolar:	n/a
32	chr21:45729326-45729376	HRE	kidney:	n/a
33	chr21:45730731-45730781	NHDF-neo	bronchial:	n/a
34	chr21:45730731-45730781	HRE	kidney:	n/a
35	chr21:45730236-45730286	GM12891	blood:	n/a
36	chr21:45729326-45729376	HUVEC	blood vessel:	n/a
37	chr21:45730224-45730274	GM12878	blood:	n/a
38	chr21:45730224-45730274	HEK293	kidney:	embryo
39	chr21:45730731-45730781	AG09309	skin:	n/a
40	chr21:45730224-45730274	PANC-1	pancreas:	n/a
41	chr21:45730236-45730286	HRE	kidney:	n/a
42	chr21:45730731-45730781	GM12878	blood:	n/a
43	chr21:45729326-45729376	HCPEpiC	choroid plexus:	n/a
44	chr21:45730224-45730274	HNPCEpiC	eye:	n/a
45	chr21:45730236-45730286	AG04449	skin:	fetal
46	chr21:45730224-45730274	NHDF-neo	bronchial:	n/a
47	chr21:45729326-45729376	ovcar-3	ovarian:	n/a
48	chr21:45730224-45730274	H1-hESC	embryonic stem cell:	embryo
49	chr21:45730731-45730781	AoSMC	blood vessel:	n/a
50	chr21:45729326-45729376	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45727055..45729484-chr21:45866946..45869178,2	MCF-7	breast:
2	chr21:45527479..45530084-chr21:45730033..45733150,3	K562	blood:
3	chr21:45726509..45728760-chr21:45732872..45734551,3	MCF-7	breast:
4	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
5	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
6	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
7	chr21:45664806..45667207-chr21:45731638..45734076,2	K562	blood:
8	chr21:45725029..45728025-chr21:45729995..45732053,3	MCF-7	breast:
9	chr21:45659877..45662375-chr21:45725683..45729445,4	MCF-7	breast:

Variant related genes	Relation type
PFKL	TF binding region
PFKL	CpG island
ENSG00000225331	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160223	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:259 , 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	rs577575048	chr21:45729255-45729256	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377340073	chr21:45729271-45729272	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542596812	chr21:45729326-45729327	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554684774	chr21:45729327-45729328	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530445139	chr21:45729386-45729387	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143242463	chr21:45729433-45729434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12483015	chr21:45729481-45729482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533097193	chr21:45729486-45729487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556882670	chr21:45729507-45729508	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545313930	chr21:45729540-45729541	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575173640	chr21:45729551-45729552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563556962	chr21:45729612-45729613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530560364	chr21:45729641-45729642	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548994673	chr21:45729657-45729658	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148312759	chr21:45729667-45729668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181950624	chr21:45729690-45729691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12483238	chr21:45729737-45729738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571786788	chr21:45729775-45729776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35458462	chr21:45729799-45729800	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557670838	chr21:45729800-45729801	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12483184	chr21:45729801-45729802	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536293679	chr21:45729806-45729807	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367593655	chr21:45729927-45729928	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554496727	chr21:45729957-45729958	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs115585164	chr21:45730009-45730010	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540693275	chr21:45730018-45730019	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs142087327	chr21:45730028-45730029	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs577801860	chr21:45730042-45730043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35890279	chr21:45730049-45730050	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs368825003	chr21:45730054-45730055	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs544865358	chr21:45730067-45730068	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145784985	chr21:45730085-45730086	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375800705	chr21:45730088-45730089	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs542651269	chr21:45730105-45730106	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs560836268	chr21:45730119-45730120	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528198284	chr21:45730133-45730134	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs546706355	chr21:45730171-45730172	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs564815400	chr21:45730193-45730194	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs372345767	chr21:45730194-45730195	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376661457	chr21:45730207-45730208	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs550759390	chr21:45730213-45730214	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370110789	chr21:45730225-45730226	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536512840	chr21:45730229-45730230	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs183612767	chr21:45730230-45730231	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs369675192	chr21:45730235-45730236	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs566884663	chr21:45730236-45730237	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs138438435	chr21:45730330-45730331	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs559047804	chr21:45730364-45730365	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs2838546	chr21:45730405-45730406	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538827122	chr21:45730422-45730423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45720800-45731000	Weak transcription	Aorta	Aorta
2	chr21:45721000-45757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45721200-45730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr21:45721200-45730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:45721200-45731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:45721200-45731000	Weak transcription	Fetal Kidney	kidney
7	chr21:45721200-45731000	Weak transcription	Osteobl	bone
8	chr21:45721200-45733600	Weak transcription	NH-A	brain
9	chr21:45721600-45736200	Weak transcription	HSMMtube	muscle
10	chr21:45722000-45729800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:45722000-45730600	Weak transcription	HSMM	muscle
12	chr21:45722600-45734000	Weak transcription	Hela-S3	cervix
13	chr21:45722800-45730600	Weak transcription	A549	lung
14	chr21:45723600-45735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45723800-45730800	Weak transcription	HMEC	breast
16	chr21:45723800-45731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:45724400-45729400	Weak transcription	Primary B cells from cord blood	blood
18	chr21:45724600-45744000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:45724800-45731200	Weak transcription	Fetal Heart	heart
20	chr21:45724800-45748400	Strong transcription	Dnd41	blood
21	chr21:45725000-45729800	Weak transcription	K562	blood
22	chr21:45725000-45730800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr21:45725000-45738800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:45725000-45758000	Weak transcription	Right Atrium	heart
25	chr21:45725200-45730200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr21:45725200-45731800	Weak transcription	Small Intestine	intestine
27	chr21:45725200-45734800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:45725400-45731000	Weak transcription	Fetal Brain Male	brain
29	chr21:45725400-45734600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:45725400-45747800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:45725400-45748000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:45725600-45730400	Weak transcription	Left Ventricle	heart
33	chr21:45725600-45747600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr21:45725600-45748000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45725600-45752800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr21:45725800-45729800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr21:45725800-45734600	Strong transcription	Placenta	Placenta
38	chr21:45725800-45757400	Strong transcription	Thymus	Thymus
39	chr21:45726000-45730200	Weak transcription	HUVEC	blood vessel
40	chr21:45726000-45747800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr21:45726000-45749200	Strong transcription	NHLF	lung
42	chr21:45726200-45731600	Strong transcription	GM12878-XiMat	blood
43	chr21:45726200-45747000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:45726200-45747600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr21:45726200-45747600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:45726200-45747600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr21:45726200-45748000	Strong transcription	Colonic Mucosa	Colon
48	chr21:45726200-45748200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr21:45726200-45753200	Strong transcription	Fetal Stomach	stomach
50	chr21:45726400-45737400	Strong transcription	Primary T cells from cord blood	blood

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