Variant report

Variant	nsv587933
Chromosome Location	chr21:47401193-47412703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:1160)
Chromatin interactive
region (count:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr21:47401270-47401483	K562	blood:	n/a	n/a
2	BACH1	chr21:47403002-47403055	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr21:47401861-47401972	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr21:47401113-47401376	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr21:47402152-47402415	K562	blood:	n/a	n/a
6	BHLHE40	chr21:47402237-47402279	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47401739-47401845	K562	blood:	n/a	n/a
8	BHLHE40	chr21:47401073-47401437	K562	blood:	n/a	n/a
9	BHLHE40	chr21:47401664-47401942	HepG2	liver:	n/a	chr21:47401702-47401718 chr21:47401705-47401721
10	BRCA1	chr21:47401105-47401345	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr21:47400724-47401494	K562	blood:	n/a	n/a
12	CCNT2	chr21:47401689-47401943	K562	blood:	n/a	n/a
13	CEBPB	chr21:47401012-47401325	IMR90	lung:	n/a	chr21:47401095-47401106
14	CHD1	chr21:47401594-47403769	IMR90	lung:	n/a	n/a
15	CHD2	chr21:47401280-47401480	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr21:47401154-47401377	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr21:47406300-47406450	WERI-Rb-1	eye:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
18	CTCF	chr21:47401660-47401810	HMEC	breast:	n/a	n/a
19	CTCF	chr21:47401719-47401826	Fibrobl	skin:	n/a	n/a
20	CTCF	chr21:47402040-47402190	MCF-7	breast:	n/a	n/a
21	CTCF	chr21:47401680-47401830	HRE	kidney:	n/a	n/a
22	CTCF	chr21:47401700-47401850	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr21:47406227-47406574	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
24	CTCF	chr21:47406324-47406535	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
25	CTCF	chr21:47401700-47401850	BJ	skin:	n/a	n/a
26	CTCF	chr21:47401680-47401910	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr21:47403340-47403490	HCFaa	heart:	n/a	chr21:47403437-47403450
28	CTCF	chr21:47405860-47406010	AG09319	gingival:	n/a	chr21:47405949-47405962
29	CTCF	chr21:47401680-47401830	AG04449	skin:	n/a	n/a
30	CTCF	chr21:47403300-47403450	HFF	foreskin:	n/a	chr21:47403437-47403450
31	CTCF	chr21:47403400-47403550	HRE	kidney:	n/a	chr21:47403437-47403450
32	CTCF	chr21:47404020-47404170	AG09319	gingival:	n/a	chr21:47404136-47404149
33	CTCF	chr21:47401708-47401787	MCF-7	breast:	n/a	n/a
34	CTCF	chr21:47406220-47406370	K562	blood:	n/a	chr21:47406333-47406346
35	CTCF	chr21:47401680-47401830	HepG2	liver:	n/a	n/a
36	CTCF	chr21:47401140-47401290	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr21:47403360-47403510	AoAF	blood vessel:	n/a	chr21:47403437-47403450
38	CTCF	chr21:47401660-47401810	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr21:47403424-47403527	IMR90	lung:	n/a	chr21:47403437-47403450
40	CTCF	chr21:47401840-47401990	HCM	heart:	n/a	n/a
41	CTCF	chr21:47404115-47404155	MCF-7	breast:	n/a	chr21:47404136-47404149
42	CTCF	chr21:47403260-47403410	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr21:47405780-47405930	AG09309	skin:	n/a	chr21:47405838-47405851
44	CTCF	chr21:47406342-47406512	HepG2	liver:	n/a	chr21:47406420-47406438
45	CTCF	chr21:47403340-47403490	HBMEC	blood vessel:	n/a	chr21:47403437-47403450
46	CTCF	chr21:47403380-47403530	AG10803	skin:	n/a	chr21:47403437-47403450
47	CTCF	chr21:47406280-47406530	K562	blood:	n/a	chr21:47406420-47406438 chr21:47406333-47406346
48	CTCF	chr21:47401640-47401790	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr21:47403320-47403470	BJ	skin:	n/a	chr21:47403437-47403450
50	CTCF	chr21:47406407-47406444	MCF-7	breast:	n/a	chr21:47406420-47406438

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47405786-47405836	PANC-1	pancreas:	n/a
2	chr21:47405786-47405836	PANC-1	pancreas:	n/a
3	chr21:47401944-47401994	MCF10A-Er-Src	breast:	n/a
4	chr21:47402144-47402194	T-47D	breast:	n/a
5	chr21:47401153-47401203	HCPEpiC	choroid plexus:	n/a
6	chr21:47401277-47401327	AoSMC	blood vessel:	n/a
7	chr21:47409570-47409620	SAEC	small airway:	n/a
8	chr21:47411200-47411250	NH-A	brain:	n/a
9	chr21:47409570-47409620	H1-hESC	embryonic stem cell:	embryo
10	chr21:47401277-47401327	IMR90	lung:	fetal
11	chr21:47407676-47407726	H1-hESC	embryonic stem cell:	embryo
12	chr21:47404165-47404215	ECC-1	luminal epithelium:	n/a
13	chr21:47401911-47401961	Jurkat	blood:	n/a
14	chr21:47409570-47409620	Hepatocyte	liver:	n/a
15	chr21:47401911-47401961	NB4	blood:	n/a
16	chr21:47401492-47401542	HAEpiC	amniotic membrane:	n/a
17	chr21:47401153-47401203	BE2_C	brain:	n/a
18	chr21:47401406-47401456	HCM	heart:	n/a
19	chr21:47406806-47406856	H1-hESC	embryonic stem cell:	embryo
20	chr21:47404109-47404159	HCM	heart:	n/a
21	chr21:47402144-47402194	AG04449	skin:	fetal
22	chr21:47408455-47408505	Hela-S3	cervix:	n/a
23	chr21:47401406-47401456	CMK	blood:	n/a
24	chr21:47404216-47404266	LNCaP	prostate:	n/a
25	chr21:47411200-47411250	BJ	skin:	n/a
26	chr21:47408455-47408505	HepG2	liver:	n/a
27	chr21:47406806-47406856	HRPEpiC	eye:	n/a
28	chr21:47407676-47407726	HRCEpiC	kidney:	n/a
29	chr21:47407676-47407726	HAEpiC	amniotic membrane:	n/a
30	chr21:47408424-47408474	HNPCEpiC	eye:	n/a
31	chr21:47408424-47408474	Hepatocyte	liver:	n/a
32	chr21:47401153-47401203	Caco-2	colon:	n/a
33	chr21:47404109-47404159	AG04450	lung:	fetal
34	chr21:47404165-47404215	GM12891	blood:	n/a
35	chr21:47401153-47401203	GM19239	blood:	n/a
36	chr21:47409570-47409620	HCT-116	colon:	n/a
37	chr21:47402144-47402194	PrEC	prostate:	n/a
38	chr21:47404165-47404215	U87	brain:	n/a
39	chr21:47404268-47404318	MCF-7	breast:	n/a
40	chr21:47408455-47408505	H1-hESC	embryonic stem cell:	embryo
41	chr21:47404268-47404318	BJ	skin:	n/a
42	chr21:47404268-47404318	Caco-2	colon:	n/a
43	chr21:47401944-47401994	AG04450	lung:	fetal
44	chr21:47402144-47402194	HUVEC	blood vessel:	n/a
45	chr21:47405667-47405717	HUVEC	blood vessel:	n/a
46	chr21:47409570-47409620	Jurkat	blood:	n/a
47	chr21:47404109-47404159	SK-N-MC	brain:	n/a
48	chr21:47411200-47411250	MCF10A-Er-Src	breast:	n/a
49	chr21:47401944-47401994	NHDF-neo	bronchial:	n/a
50	chr21:47401492-47401542	BE2_C	brain:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50057880..50060234-chr21:47402833..47404920,2	MCF-7	breast:
2	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:
3	chr1:11967988..11968880-chr21:47400979..47401814,2	HCT-116	colon:
4	chr21:47405747..47408135-chr21:47408185..47410437,2	K562	blood:
5	chr21:47405747..47408135-chr21:47408185..47410527,3	K562	blood:
6	chr21:47401680..47403965-chr21:47408741..47410479,2	K562	blood:
7	chr21:47401680..47403965-chr21:47408741..47410479,2	K562	blood:
8	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
9	chr19:56825808..56826423-chr21:47401255..47401974,2	HCT-116	colon:
10	chr21:47334656..47336650-chr21:47402926..47405175,2	MCF-7	breast:
11	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
12	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
13	chr21:47402572..47405446-chr21:47518065..47519578,2	MCF-7	breast:
14	chr21:47402054..47404414-chr21:47532633..47534962,2	K562	blood:
15	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
16	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
17	chr21:47411553..47415297-chr21:47415530..47420389,6	K562	blood:
18	chr21:47409850..47411682-chr21:47705051..47707715,2	K562	blood:
19	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
20	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-2	chr21:47407023-47407433	NONHSAT083006
2	lnc-PCBP3-2	chr21:47407524-47407547	NONHSAT083006

No data

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island
ENSG00000267549	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000142156	chromatin interactions

Extended variants
information (count: 816 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17551710	chr21:47401193-47401194	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373424990	chr21:47401221-47401222	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186966608	chr21:47401231-47401232	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571020342	chr21:47401239-47401240	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572157419	chr21:47401317-47401318	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs147609309	chr21:47401344-47401345	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs529495470	chr21:47401362-47401363	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs575960671	chr21:47401386-47401387	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs188909662	chr21:47401397-47401398	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561973311	chr21:47401454-47401455	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs529217122	chr21:47401458-47401459	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs547177681	chr21:47401500-47401501	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559154528	chr21:47401517-47401518	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs181967632	chr21:47401522-47401523	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs186342882	chr21:47401523-47401524	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs201163200	chr21:47401527-47401528	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs190943817	chr21:47401529-47401530	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs570872171	chr21:47401639-47401640	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs538198495	chr21:47401641-47401642	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs549954522	chr21:47401659-47401660	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568728524	chr21:47401662-47401663	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs535807983	chr21:47401700-47401701	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554387250	chr21:47401701-47401702	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs572651015	chr21:47401707-47401708	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs371842589	chr21:47401725-47401726	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs374841960	chr21:47401739-47401740	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs370096177	chr21:47401746-47401747	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs7671	chr21:47401760-47401761	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377142360	chr21:47401764-47401765	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs369561233	chr21:47401773-47401774	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs543400339	chr21:47401787-47401788	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561566597	chr21:47401790-47401791	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs149741299	chr21:47401833-47401834	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs150165253	chr21:47401841-47401842	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs373932797	chr21:47401848-47401849	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559717823	chr21:47401880-47401881	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs114178849	chr21:47401881-47401882	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559243015	chr21:47401883-47401884	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs369215512	chr21:47401887-47401888	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs532927397	chr21:47401893-47401894	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551170144	chr21:47401911-47401912	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138754296	chr21:47401931-47401932	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs531752890	chr21:47401932-47401933	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550133846	chr21:47401993-47401994	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568390592	chr21:47402002-47402003	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529329294	chr21:47402028-47402029	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548076718	chr21:47402036-47402037	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138847222	chr21:47402079-47402080	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs117187953	chr21:47402087-47402088	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554535037	chr21:47402192-47402193	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 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:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47397400-47401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:47398800-47401600	Weak transcription	Lung	lung
3	chr21:47399200-47401200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:47400400-47401200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr21:47400400-47401200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:47400400-47401200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:47400400-47401200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
8	chr21:47400400-47401200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr21:47400400-47401200	Flanking Active TSS	NHLF	lung
10	chr21:47400400-47401400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:47400600-47401200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:47400600-47401200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr21:47400600-47401200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
14	chr21:47400600-47401200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr21:47400600-47401200	Flanking Active TSS	Hela-S3	cervix
16	chr21:47400600-47401400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:47400600-47401400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:47400600-47401400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr21:47400600-47401400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:47400600-47401400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr21:47400600-47401400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr21:47400600-47401400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr21:47400600-47401400	Flanking Active TSS	Dnd41	blood
24	chr21:47400600-47401400	Flanking Active TSS	NH-A	brain
25	chr21:47400600-47401400	Flanking Active TSS	Osteobl	bone
26	chr21:47400600-47402200	Active TSS	A549	lung
27	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr21:47400800-47401200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr21:47400800-47401200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
31	chr21:47400800-47401200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr21:47400800-47401200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
34	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
35	chr21:47400800-47401200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr21:47400800-47401200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr21:47400800-47401200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:47400800-47401200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
40	chr21:47400800-47401400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:47400800-47401400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:47400800-47401400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr21:47400800-47401400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:47400800-47401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:47400800-47401400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr21:47400800-47401400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr21:47400800-47401400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr21:47400800-47401400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr21:47400800-47401400	Flanking Active TSS	Fetal Brain Male	brain
50	chr21:47400800-47401400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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