Variant report

Variant	esv3422692
Chromosome Location	chr21:40554107-40556955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:640)
CpG islands
(count:856)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40556138-40556918	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40555259-40555789	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40555289-40556898	K562	blood:	n/a	n/a
4	ATF2	chr21:40555044-40555728	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr21:40555225-40556157	GM12878	blood:	n/a	n/a
6	ATF2	chr21:40554990-40556030	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr21:40555052-40555415	K562	blood:	n/a	n/a
8	BACH1	chr21:40554625-40555012	K562	blood:	n/a	n/a
9	BACH1	chr21:40554695-40555957	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr21:40555547-40555917	A549	lung:	n/a	chr21:40555857-40555866 chr21:40555890-40555898
11	BCL3	chr21:40555009-40555925	K562	blood:	n/a	chr21:40555345-40555358 chr21:40555857-40555866 chr21:40555890-40555898
12	BCL3	chr21:40554846-40556075	K562	blood:	n/a	chr21:40555345-40555358 chr21:40555857-40555866 chr21:40555890-40555898
13	BCL3	chr21:40555052-40555901	GM12878	blood:	n/a	chr21:40555345-40555358 chr21:40555857-40555866 chr21:40555890-40555898
14	BCL3	chr21:40555093-40556133	GM12878	blood:	n/a	chr21:40555345-40555358 chr21:40555857-40555866 chr21:40555890-40555898
15	BCL3	chr21:40555518-40555961	A549	lung:	n/a	chr21:40555857-40555866 chr21:40555890-40555898
16	BCL3	chr21:40554976-40555408	A549	lung:	n/a	chr21:40555345-40555358
17	BCLAF1	chr21:40555350-40555914	GM12878	blood:	n/a	chr21:40555857-40555866 chr21:40555890-40555898
18	BCLAF1	chr21:40555022-40556206	GM12878	blood:	n/a	chr21:40555345-40555358 chr21:40555857-40555866 chr21:40555890-40555898
19	BHLHE40	chr21:40554781-40556271	GM12878	blood:	n/a	chr21:40555869-40555885
20	BHLHE40	chr21:40554197-40556204	K562	blood:	n/a	chr21:40555869-40555885
21	BHLHE40	chr21:40555179-40556146	HepG2	liver:	n/a	chr21:40555869-40555885
22	BRCA1	chr21:40555101-40555493	HepG2	liver:	n/a	n/a
23	BRCA1	chr21:40554764-40556046	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr21:40554802-40555639	GM12878	blood:	n/a	n/a
25	BRCA1	chr21:40555807-40555988	HepG2	liver:	n/a	n/a
26	BRCA1	chr21:40555152-40555520	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr21:40555059-40556217	K562	blood:	n/a	n/a
28	CCNT2	chr21:40554730-40556279	K562	blood:	n/a	n/a
29	CEBPB	chr21:40555306-40555439	K562	blood:	n/a	n/a
30	CEBPB	chr21:40556410-40557145	K562	blood:	n/a	n/a
31	CEBPB	chr21:40555052-40555502	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr21:40555161-40555970	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr21:40555134-40555817	HepG2	liver:	n/a	n/a
34	CEBPD	chr21:40554774-40556157	K562	blood:	n/a	n/a
35	CEBPD	chr21:40555024-40556118	K562	blood:	n/a	n/a
36	CHD1	chr21:40556204-40556463	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr21:40554913-40555595	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr21:40556474-40556902	GM12878	blood:	n/a	n/a
39	CHD1	chr21:40554641-40556162	GM12878	blood:	n/a	n/a
40	CHD2	chr21:40554803-40555973	HepG2	liver:	n/a	n/a
41	CHD2	chr21:40554567-40556100	K562	blood:	n/a	n/a
42	CHD2	chr21:40554788-40556186	GM12878	blood:	n/a	n/a
43	CHD2	chr21:40554215-40554313	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr21:40554674-40556084	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr21:40554754-40556054	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr21:40554835-40556073	K562	blood:	n/a	n/a
47	CREB1	chr21:40555032-40556170	GM12878	blood:	n/a	n/a
48	CREB1	chr21:40555731-40556139	A549	lung:	n/a	n/a
49	CREB1	chr21:40555060-40555712	A549	lung:	n/a	n/a
50	CTBP2	chr21:40554870-40556140	H1-hESC	embryonic stem cell:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40555474-40555524	K562	blood:	n/a
2	chr21:40555880-40555930	AG10803	skin:	n/a
3	chr21:40555474-40555524	K562	blood:	n/a
4	chr21:40555880-40555930	AG10803	skin:	n/a
5	chr21:40555479-40555529	HNPCEpiC	eye:	n/a
6	chr21:40555409-40555459	RPTEC	kidney:	n/a
7	chr21:40555724-40555774	A549	lung:	n/a
8	chr21:40555523-40555573	H1-hESC	embryonic stem cell:	embryo
9	chr21:40555479-40555529	HCT-116	colon:	n/a
10	chr21:40555129-40555179	NHBE	bronchial:	n/a
11	chr21:40555470-40555520	PrEC	prostate:	n/a
12	chr21:40555129-40555179	H1-hESC	embryonic stem cell:	embryo
13	chr21:40555474-40555524	ovcar-3	ovarian:	n/a
14	chr21:40554907-40554957	HNPCEpiC	eye:	n/a
15	chr21:40555880-40555930	Caco-2	colon:	n/a
16	chr21:40556116-40556166	CMK	blood:	n/a
17	chr21:40556116-40556166	HRCEpiC	kidney:	n/a
18	chr21:40554221-40554271	NHBE	bronchial:	n/a
19	chr21:40556116-40556166	HCT-116	colon:	n/a
20	chr21:40555409-40555459	HMEC	breast:	n/a
21	chr21:40555409-40555459	Hepatocyte	liver:	n/a
22	chr21:40555474-40555524	NHDF-neo	bronchial:	n/a
23	chr21:40555880-40555930	T-47D	breast:	n/a
24	chr21:40555470-40555520	HUVEC	blood vessel:	n/a
25	chr21:40555395-40555445	Caco-2	colon:	n/a
26	chr21:40555409-40555459	HL-60	blood:	n/a
27	chr21:40555409-40555459	MCF10A-Er-Src	breast:	n/a
28	chr21:40555880-40555930	NB4	blood:	n/a
29	chr21:40555500-40555550	GM06990	blood:	n/a
30	chr21:40555409-40555459	AG04450	lung:	fetal
31	chr21:40554221-40554271	MCF10A-Er-Src	breast:	n/a
32	chr21:40555523-40555573	HIPEpiC	eye:	n/a
33	chr21:40555523-40555573	NH-A	brain:	n/a
34	chr21:40555724-40555774	HUVEC	blood vessel:	n/a
35	chr21:40555474-40555524	AoSMC	blood vessel:	n/a
36	chr21:40555880-40555930	HEK293	kidney:	embryo
37	chr21:40555500-40555550	ovcar-3	ovarian:	n/a
38	chr21:40555479-40555529	HEK293	kidney:	embryo
39	chr21:40555523-40555573	HCM	heart:	n/a
40	chr21:40555414-40555464	Hepatocyte	liver:	n/a
41	chr21:40555395-40555445	HepG2	liver:	n/a
42	chr21:40554221-40554271	HEEpiC	esophagus:	n/a
43	chr21:40555500-40555550	GM12878	blood:	n/a
44	chr21:40555479-40555529	CMK	blood:	n/a
45	chr21:40555500-40555550	HUVEC	blood vessel:	n/a
46	chr21:40555409-40555459	SKMC	muscle:	n/a
47	chr21:40555880-40555930	PFSK-1	brain:	n/a
48	chr21:40556116-40556166	NB4	blood:	n/a
49	chr21:40555474-40555524	SKMC	muscle:	n/a
50	chr21:40555129-40555179	U87	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40555099..40556872-chr21:40718336..40720047,2	MCF-7	breast:
2	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:
3	chr21:40552621..40555799-chr21:40758034..40760615,3	K562	blood:
4	chr21:40554955..40557163-chr21:40823681..40826162,2	K562	blood:
5	chr21:40554651..40557222-chr21:40599686..40602201,3	K562	blood:
6	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:
7	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
8	chr21:40554206..40555769-chr21:40571633..40573834,2	K562	blood:
9	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
10	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
11	chr21:40555615..40557158-chr21:40816762..40818748,2	MCF-7	breast:
12	chr21:40552640..40555791-chr21:40749339..40752310,3	K562	blood:
13	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:
14	chr21:40554637..40556936-chr21:40588612..40590641,2	K562	blood:
15	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
16	chr21:40552621..40554134-chr21:40759011..40760578,2	K562	blood:
17	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
18	chr21:40553901..40555576-chr21:40760955..40763916,2	K562	blood:
19	chr12:99038540..99039458-chr21:40555041..40555555,2	Hela-S3	cervix:
20	chr21:40555032..40557155-chr21:40684133..40685858,2	MCF-7	breast:
21	chr21:40556483..40559803-chr21:40580058..40583280,3	K562	blood:
22	chr21:40552516..40555515-chr21:40758943..40760790,2	MCF-7	breast:
23	chr21:40553976..40556398-chr21:40816228..40819085,2	MCF-7	breast:
24	chr21:40554460..40556456-chr21:40823248..40825971,3	K562	blood:
25	chr21:40555173..40557304-chr21:40714737..40716613,2	K562	blood:
26	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
27	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
28	chr21:40554325..40556073-chr21:40808791..40811765,2	K562	blood:
29	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
30	chr21:40555015..40555947-chr4:25314153..25314779,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-7	chr21:40556395-40556825	ENSG00000272991.1

No data

Variant related genes	Relation type
PSMG1	TF binding region
ENSG00000272991	TF binding region
PSMG1	CpG island
ENSG00000272991	CpG island
ENSG00000157557	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000168228	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000157554	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000120868	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000166130	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148707878	chr21:40554107-40554108	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs34160989	chr21:40554118-40554119	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11909263	chr21:40554182-40554183	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539472348	chr21:40554198-40554199	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs553298428	chr21:40554244-40554245	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs186812480	chr21:40554290-40554291	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs540958711	chr21:40554339-40554340	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs560847737	chr21:40554344-40554345	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs574334413	chr21:40554353-40554354	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs4817999	chr21:40554355-40554356	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs75091728	chr21:40554359-40554360	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs532202064	chr21:40554370-40554371	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs150785486	chr21:40554412-40554413	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs375426800	chr21:40554418-40554419	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs189783364	chr21:40554518-40554519	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs117689961	chr21:40554520-40554521	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs568760231	chr21:40554522-40554523	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs537256079	chr21:40554535-40554536	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs551128039	chr21:40554541-40554542	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs181387292	chr21:40554556-40554557	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs73221192	chr21:40554561-40554562	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370007577	chr21:40554565-40554566	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs553170656	chr21:40554566-40554567	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs77741922	chr21:40554569-40554570	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs73221193	chr21:40554693-40554694	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs185067733	chr21:40554716-40554717	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs554454057	chr21:40554807-40554808	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs574347082	chr21:40554825-40554826	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs377058837	chr21:40554827-40554828	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs373858445	chr21:40554832-40554833	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs367666733	chr21:40554841-40554842	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs77368384	chr21:40554904-40554905	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs528273240	chr21:40554909-40554910	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs545912313	chr21:40554944-40554945	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs559487146	chr21:40554961-40554962	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs569176104	chr21:40554967-40554968	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs528131932	chr21:40554977-40554978	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs541804988	chr21:40555022-40555023	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs562391581	chr21:40555034-40555035	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs531202347	chr21:40555052-40555053	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs11910179	chr21:40555065-40555066	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs571052800	chr21:40555083-40555084	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs112890961	chr21:40555115-40555116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs369437106	chr21:40555130-40555131	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs373793101	chr21:40555145-40555146	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs377336363	chr21:40555154-40555155	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs34294410	chr21:40555160-40555161	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs374377130	chr21:40555167-40555168	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs200000347	chr21:40555181-40555182	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs1127136	chr21:40555195-40555196	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40540200-40554200	Weak transcription	Psoas Muscle	Psoas
2	chr21:40541800-40554400	Weak transcription	Brain Germinal Matrix	brain
3	chr21:40542400-40554400	Weak transcription	Right Atrium	heart
4	chr21:40543800-40554200	Weak transcription	Right Ventricle	heart
5	chr21:40543800-40554600	Weak transcription	Left Ventricle	heart
6	chr21:40545600-40554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:40546400-40554200	Weak transcription	Lung	lung
8	chr21:40546400-40554200	Weak transcription	Ovary	ovary
9	chr21:40546400-40554600	Weak transcription	Gastric	stomach
10	chr21:40548400-40554400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr21:40548400-40554600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:40551000-40554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:40551400-40554200	Weak transcription	Aorta	Aorta
14	chr21:40552400-40554200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:40552600-40554200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:40552800-40554200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr21:40553000-40554200	Weak transcription	Primary B cells from cord blood	blood
18	chr21:40553000-40554200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr21:40553000-40554200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr21:40553000-40554400	Flanking Active TSS	Hela-S3	cervix
21	chr21:40553000-40556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:40553400-40554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40553400-40554600	Flanking Active TSS	K562	blood
24	chr21:40553600-40554200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr21:40553600-40554400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:40553600-40554400	Flanking Active TSS	HepG2	liver
27	chr21:40553600-40554400	Flanking Active TSS	HUVEC	blood vessel
28	chr21:40553600-40554400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr21:40553600-40554400	Flanking Active TSS	NHEK	skin
30	chr21:40553600-40554600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:40553600-40554600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:40553600-40554600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr21:40553600-40554800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:40553600-40554800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr21:40553600-40554800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:40553600-40555000	Flanking Active TSS	Dnd41	blood
37	chr21:40553600-40557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr21:40553800-40554200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr21:40553800-40554200	Enhancers	Primary T cells from cord blood	blood
40	chr21:40553800-40554200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:40553800-40554200	Enhancers	Adipose Nuclei	Adipose
42	chr21:40553800-40554200	Enhancers	Fetal Lung	lung
43	chr21:40553800-40554200	Enhancers	HSMMtube	muscle
44	chr21:40553800-40554400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:40553800-40554400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:40553800-40554400	Flanking Active TSS	NHLF	lung
47	chr21:40553800-40554600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr21:40553800-40554600	Flanking Active TSS	NH-A	brain
49	chr21:40553800-40555000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:40553800-40555200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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