Variant report

Variant	nsv459310
Chromosome Location	chr21:47409503-47488387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:715)
CpG islands
(count:2445)
Chromatin interactive
region (count:70)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47453886-47454184	HepG2	liver:	n/a	n/a
2	ATF1	chr21:47451381-47451634	K562	blood:	n/a	n/a
3	ATF1	chr21:47438571-47438881	K562	blood:	n/a	n/a
4	ATF1	chr21:47449168-47449491	K562	blood:	n/a	n/a
5	ATF3	chr21:47442442-47442721	K562	blood:	n/a	n/a
6	ATF3	chr21:47442423-47442763	K562	blood:	n/a	n/a
7	BACH1	chr21:47469613-47469830	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr21:47480538-47480950	GM12878	blood:	n/a	n/a
9	BCL3	chr21:47431601-47431863	GM12878	blood:	n/a	n/a
10	BCL3	chr21:47431464-47431857	GM12878	blood:	n/a	n/a
11	BCL3	chr21:47435502-47435731	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:47421798-47422063	K562	blood:	n/a	n/a
13	BHLHE40	chr21:47451470-47451654	HepG2	liver:	n/a	n/a
14	BHLHE40	chr21:47431599-47431651	K562	blood:	n/a	n/a
15	BHLHE40	chr21:47442251-47442856	K562	blood:	n/a	n/a
16	BHLHE40	chr21:47451370-47451817	K562	blood:	n/a	n/a
17	CBX3	chr21:47449480-47449748	K562	blood:	n/a	n/a
18	CBX3	chr21:47442415-47442906	K562	blood:	n/a	n/a
19	CBX3	chr21:47428177-47428442	K562	blood:	n/a	n/a
20	CBX3	chr21:47483130-47483459	K562	blood:	n/a	n/a
21	CBX3	chr21:47483098-47483540	K562	blood:	n/a	n/a
22	CBX3	chr21:47449419-47449832	K562	blood:	n/a	n/a
23	CCNT2	chr21:47438722-47438822	K562	blood:	n/a	n/a
24	CEBPB	chr21:47473333-47473552	A549	lung:	n/a	n/a
25	CEBPB	chr21:47458811-47459259	IMR90	lung:	n/a	n/a
26	CEBPB	chr21:47464777-47464883	A549	lung:	n/a	n/a
27	CEBPB	chr21:47469201-47469600	K562	blood:	n/a	n/a
28	CEBPB	chr21:47469269-47469549	A549	lung:	n/a	n/a
29	CEBPB	chr21:47469348-47469712	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr21:47466459-47466659	K562	blood:	n/a	n/a
31	CEBPB	chr21:47473213-47473667	IMR90	lung:	n/a	n/a
32	CEBPB	chr21:47469136-47469927	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr21:47445463-47445762	IMR90	lung:	n/a	n/a
34	CEBPB	chr21:47468951-47469962	IMR90	lung:	n/a	n/a
35	CEBPB	chr21:47464685-47464932	IMR90	lung:	n/a	n/a
36	CEBPB	chr21:47468992-47470110	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr21:47445496-47445774	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr21:47445414-47445737	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr21:47464653-47464729	K562	blood:	n/a	n/a
40	CEBPB	chr21:47480507-47481116	IMR90	lung:	n/a	n/a
41	CEBPB	chr21:47448333-47448708	IMR90	lung:	n/a	n/a
42	CEBPB	chr21:47445457-47445829	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr21:47469242-47469605	HepG2	liver:	n/a	n/a
44	CHD1	chr21:47419515-47420005	IMR90	lung:	n/a	n/a
45	CHD1	chr21:47475585-47477580	IMR90	lung:	n/a	chr21:47476798-47476808
46	CHD1	chr21:47473013-47474761	IMR90	lung:	n/a	n/a
47	CHD2	chr21:47442453-47442755	K562	blood:	n/a	n/a
48	CHD2	chr21:47453830-47453920	HepG2	liver:	n/a	n/a
49	CHD2	chr21:47442594-47442622	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr21:47461294-47461390	K562	blood:	n/a	n/a

(count:2445 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47456315-47456365	HMEC	breast:	n/a
2	chr21:47457188-47457238	NH-A	brain:	n/a
3	chr21:47453297-47453347	HNPCEpiC	eye:	n/a
4	chr21:47422158-47422208	Caco-2	colon:	n/a
5	chr21:47453889-47453939	AG09309	skin:	n/a
6	chr21:47456315-47456365	HMEC	breast:	n/a
7	chr21:47457188-47457238	NH-A	brain:	n/a
8	chr21:47453297-47453347	HNPCEpiC	eye:	n/a
9	chr21:47422158-47422208	Caco-2	colon:	n/a
10	chr21:47453889-47453939	AG09309	skin:	n/a
11	chr21:47454892-47454942	BJ	skin:	n/a
12	chr21:47423074-47423124	IMR90	lung:	fetal
13	chr21:47418282-47418332	IMR90	lung:	fetal
14	chr21:47426939-47426989	GM12878	blood:	n/a
15	chr21:47411200-47411250	A549	lung:	n/a
16	chr21:47421947-47421997	SK-N-SH_RA	brain:	n/a
17	chr21:47460364-47460414	AG04450	lung:	fetal
18	chr21:47423639-47423689	GM12892	blood:	n/a
19	chr21:47418282-47418332	H1-hESC	embryonic stem cell:	embryo
20	chr21:47456446-47456496	PrEC	prostate:	n/a
21	chr21:47421319-47421369	PFSK-1	brain:	n/a
22	chr21:47455453-47455503	HepG2	liver:	n/a
23	chr21:47457738-47457788	HUVEC	blood vessel:	n/a
24	chr21:47421947-47421997	T-47D	breast:	n/a
25	chr21:47424543-47424593	GM06990	blood:	n/a
26	chr21:47431526-47431576	HCF	heart:	n/a
27	chr21:47434002-47434052	ovcar-3	ovarian:	n/a
28	chr21:47456446-47456496	GM12892	blood:	n/a
29	chr21:47460364-47460414	NHDF-neo	bronchial:	n/a
30	chr21:47453297-47453347	ECC-1	luminal epithelium:	n/a
31	chr21:47456446-47456496	HCM	heart:	n/a
32	chr21:47453520-47453570	HUVEC	blood vessel:	n/a
33	chr21:47453656-47453706	SAEC	small airway:	n/a
34	chr21:47421947-47421997	GM12892	blood:	n/a
35	chr21:47456404-47456454	GM12878	blood:	n/a
36	chr21:47469679-47469729	AG09309	skin:	n/a
37	chr21:47420301-47420351	HEEpiC	esophagus:	n/a
38	chr21:47421319-47421369	NHBE	bronchial:	n/a
39	chr21:47428846-47428896	LNCaP	prostate:	n/a
40	chr21:47469679-47469729	HRE	kidney:	n/a
41	chr21:47434002-47434052	GM12892	blood:	n/a
42	chr21:47420301-47420351	Caco-2	colon:	n/a
43	chr21:47421177-47421227	U87	brain:	n/a
44	chr21:47434002-47434052	HRE	kidney:	n/a
45	chr21:47469679-47469729	GM19239	blood:	n/a
46	chr21:47421947-47421997	NHDF-neo	bronchial:	n/a
47	chr21:47421270-47421320	NB4	blood:	n/a
48	chr21:47469104-47469154	BE2_C	brain:	n/a
49	chr21:47421319-47421369	NHDF-neo	bronchial:	n/a
50	chr21:47411200-47411250	HCM	heart:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:47467167..47469249-chr21:47470137..47471990,2	K562	blood:
2	chr21:47476412..47478192-chr21:47563693..47565789,2	K562	blood:
3	chr21:47433494..47435597-chr21:47439927..47442873,2	MCF-7	breast:
4	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
5	chr21:47483689..47485600-chr21:47485621..47488078,2	K562	blood:
6	chr21:47422093..47424938-chr21:47427545..47430029,2	K562	blood:
7	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
8	chr21:47405747..47408135-chr21:47408185..47410437,2	K562	blood:
9	chr21:47447601..47449403-chr21:47486419..47488081,2	K562	blood:
10	chr21:47480527..47483405-chr21:47514946..47517801,2	MCF-7	breast:
11	chr21:47477438..47479279-chr21:47515180..47518074,2	K562	blood:
12	chr21:47421911..47424111-chr21:47437012..47439738,2	K562	blood:
13	chr21:47433494..47435597-chr21:47439927..47442873,2	MCF-7	breast:
14	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
15	chr21:47436870..47439300-chr21:47518034..47520578,2	MCF-7	breast:
16	chr21:47411553..47415297-chr21:47415530..47420389,6	K562	blood:
17	chr21:47441279..47443390-chr21:47516030..47518105,2	MCF-7	breast:
18	chr21:47427092..47429709-chr21:47442410..47444749,2	K562	blood:
19	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:
20	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
21	chr21:47460724..47462986-chr21:47480949..47482640,2	K562	blood:
22	chr21:46961078..46962785-chr21:47417789..47420284,2	K562	blood:
23	chr21:47468918..47472938-chr21:47474374..47476128,3	K562	blood:
24	chr2:131851141..131852056-chr21:47448788..47449619,2	Hela-S3	cervix:
25	chr21:47459712..47462417-chr21:47469068..47471117,2	K562	blood:
26	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
27	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
28	chr21:47464638..47466951-chr21:47467945..47470531,2	K562	blood:
29	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
30	chr21:47422053..47425475-chr21:47428591..47432005,3	MCF-7	breast:
31	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
32	chr21:47448813..47450619-chr21:47451876..47453813,2	K562	blood:
33	chr21:47405747..47408135-chr21:47408185..47410527,3	K562	blood:
34	chr21:47447601..47449403-chr21:47486419..47488081,2	K562	blood:
35	chr21:47483689..47485600-chr21:47485621..47488078,2	K562	blood:
36	chr21:47467167..47469249-chr21:47470137..47471990,2	K562	blood:
37	chr21:47434745..47436631-chr21:47437603..47439853,2	K562	blood:
38	chr21:47416853..47418859-chr21:47421399..47424312,2	K562	blood:
39	chr21:47448813..47450619-chr21:47451876..47453813,2	K562	blood:
40	chr21:47421697..47423323-chr21:47458853..47461069,2	MCF-7	breast:
41	chr21:47439436..47442196-chr21:47457727..47460452,2	MCF-7	breast:
42	chr21:47439436..47442196-chr21:47457727..47460452,2	MCF-7	breast:
43	chr21:47409850..47411682-chr21:47705051..47707715,2	K562	blood:
44	chr21:47485799..47487872-chr21:47511862..47514238,2	K562	blood:
45	chr21:47444128..47447153-chr21:47459721..47462680,3	K562	blood:
46	chr21:47464638..47467897-chr21:47467945..47470124,3	K562	blood:
47	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:
48	chr21:47460724..47462986-chr21:47480949..47482640,2	K562	blood:
49	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
50	chr21:47436259..47437782-chr21:47691002..47692922,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-3	chr21:47420245-47420281	NONHSAT083008
2	lnc-PCBP3-3	chr21:47420673-47420842	NONHSAT083008
3	lnc-PCBP3-3	chr21:47419314-47419606	NONHSAT083008

No data

Variant related genes	Relation type
ENSG00000226115	TF binding region
COL6A1	TF binding region
ENSG00000224413	TF binding region
ENSG00000228235	TF binding region
ENSG00000226115	CpG island
COL6A1	CpG island
ENSG00000224413	CpG island
ENSG00000228235	CpG island
ENSG00000142156	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000228235	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000224413	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000233767	chromatin interactions
ENSG00000160299	chromatin interactions

Extended variants
information (count: 4470 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:4470 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2277814	chr21:47409503-47409504	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs398123641	chr21:47409504-47409505	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560393828	chr21:47409515-47409516	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs121912939	chr21:47409531-47409532	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372027081	chr21:47409534-47409535	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs398123643	chr21:47409540-47409541	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141572895	chr21:47409543-47409544	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376316038	chr21:47409547-47409548	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369357062	chr21:47409549-47409550	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371989252	chr21:47409557-47409558	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs398123644	chr21:47409559-47409560	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200380846	chr21:47409570-47409571	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199632006	chr21:47409579-47409580	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34495634	chr21:47409580-47409581	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs191693749	chr21:47409592-47409593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200848483	chr21:47409597-47409598	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376096786	chr21:47409598-47409599	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80311096	chr21:47409606-47409607	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369946281	chr21:47409617-47409618	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373200209	chr21:47409642-47409643	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377277629	chr21:47409648-47409649	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552688004	chr21:47409659-47409660	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370610690	chr21:47409662-47409663	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145838277	chr21:47409682-47409683	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374654116	chr21:47409686-47409687	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377474560	chr21:47409701-47409702	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370271954	chr21:47409705-47409706	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534255850	chr21:47409709-47409710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374700236	chr21:47409711-47409712	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148909683	chr21:47409722-47409723	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372692492	chr21:47409743-47409744	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377159023	chr21:47409750-47409751	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369511036	chr21:47409751-47409752	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183965829	chr21:47409796-47409797	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556248803	chr21:47409821-47409822	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574632278	chr21:47409826-47409827	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370870545	chr21:47409829-47409830	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553522846	chr21:47409830-47409831	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572027835	chr21:47409835-47409836	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545743528	chr21:47409839-47409840	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552124936	chr21:47409882-47409883	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs531356841	chr21:47409910-47409911	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs370657858	chr21:47409934-47409935	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs373874954	chr21:47409939-47409940	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs376860429	chr21:47409963-47409964	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs530166850	chr21:47409973-47409974	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7282375	chr21:47409974-47409975	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548539116	chr21:47409980-47409981	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566726575	chr21:47410002-47410003	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189163830	chr21:47410008-47410009	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	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:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
4	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
6	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
7	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
9	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
13	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
15	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
16	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
17	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
25	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:47405600-47413200	Strong transcription	Osteobl	bone
27	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
28	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:47405800-47414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:47406200-47412400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:47406400-47411600	Strong transcription	Adipose Nuclei	Adipose
32	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr21:47406800-47410400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:47407000-47411600	Weak transcription	Brain Hippocampus Middle	brain
36	chr21:47407000-47414400	Strong transcription	Fetal Intestine Large	intestine
37	chr21:47407400-47410200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:47407400-47410600	Weak transcription	Brain Anterior Caudate	brain
39	chr21:47407400-47411800	Weak transcription	Pancreas	Pancrea
40	chr21:47407400-47413800	Weak transcription	HSMM	muscle
41	chr21:47407600-47409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:47407600-47409600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr21:47407600-47409600	Weak transcription	Liver	Liver
44	chr21:47407600-47409600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:47407600-47409800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:47407600-47409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:47407600-47410000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr21:47407600-47410600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr21:47407600-47410600	Weak transcription	NH-A	brain
50	chr21:47407600-47414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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