Variant report

Variant	esv3328344
Chromosome Location	chr21:46706274-46709122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:515)
CpG islands
(count:1100)
Chromatin interactive
region (count:18)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:46707639-46708071	K562	blood:	n/a	n/a
2	ATF3	chr21:46707758-46708132	GM12878	blood:	n/a	chr21:46707839-46707848
3	ATF3	chr21:46707660-46708203	K562	blood:	n/a	chr21:46707839-46707848
4	ATF3	chr21:46707647-46708102	A549	lung:	n/a	chr21:46707839-46707848
5	BACH1	chr21:46706842-46707007	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:46707621-46708214	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr21:46707577-46708186	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:46707715-46708185	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:46707752-46708081	K562	blood:	n/a	n/a
10	BRCA1	chr21:46707735-46708089	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr21:46708059-46708108	GM12878	blood:	n/a	n/a
12	CBX3	chr21:46707642-46708150	K562	blood:	n/a	n/a
13	CCNT2	chr21:46706598-46706798	K562	blood:	n/a	n/a
14	CCNT2	chr21:46707606-46708180	K562	blood:	n/a	chr21:46707839-46707848
15	CCNT2	chr21:46708653-46708696	K562	blood:	n/a	n/a
16	CEBPB	chr21:46707734-46707980	HepG2	liver:	n/a	n/a
17	CEBPB	chr21:46707665-46708044	K562	blood:	n/a	n/a
18	CEBPB	chr21:46707614-46708045	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr21:46707603-46708084	HepG2	liver:	n/a	n/a
20	CEBPB	chr21:46707635-46708069	IMR90	lung:	n/a	n/a
21	CEBPB	chr21:46707632-46707879	HepG2	liver:	n/a	n/a
22	CEBPD	chr21:46707533-46708209	HepG2	liver:	n/a	n/a
23	CHD1	chr21:46708007-46708121	GM12878	blood:	n/a	n/a
24	CHD1	chr21:46707332-46709487	IMR90	lung:	n/a	chr21:46708568-46708578 chr21:46708335-46708345 chr21:46707837-46707847
25	CHD2	chr21:46707483-46708191	Hela-S3	cervix:	n/a	chr21:46707837-46707847
26	CHD2	chr21:46707542-46708103	GM12878	blood:	n/a	chr21:46707837-46707847
27	CHD2	chr21:46708476-46708479	HepG2	liver:	n/a	n/a
28	CHD2	chr21:46707559-46708098	H1-hESC	embryonic stem cell:	n/a	chr21:46707837-46707847
29	CHD2	chr21:46707714-46708022	HepG2	liver:	n/a	chr21:46707837-46707847
30	CHD2	chr21:46707632-46708134	K562	blood:	n/a	chr21:46707837-46707847
31	CREB1	chr21:46707573-46708194	K562	blood:	n/a	n/a
32	CREB1	chr21:46707543-46708230	GM12878	blood:	n/a	n/a
33	CREB1	chr21:46707417-46708325	HepG2	liver:	n/a	n/a
34	CREB1	chr21:46707632-46707948	A549	lung:	n/a	n/a
35	CREB1	chr21:46707470-46708118	A549	lung:	n/a	n/a
36	CREB1	chr21:46707550-46708086	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr21:46707453-46708231	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr21:46706814-46707242	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr21:46707581-46708149	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr21:46707573-46707754	K562	blood:	n/a	n/a
41	CTCF	chr21:46707847-46707852	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr21:46707887-46707965	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr21:46707640-46707790	AG09319	gingival:	n/a	n/a
44	CTCF	chr21:46707620-46707770	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr21:46706620-46706770	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr21:46707875-46707885	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr21:46707775-46707780	GM19240	blood:	n/a	n/a
48	CTCF	chr21:46707620-46707770	HMF	breast:	n/a	n/a
49	CTCF	chr21:46707720-46707970	GM12866	blood:	n/a	n/a
50	CTCF	chr21:46707660-46707810	HCPEpiC	choroid plexus:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46708965-46709015	SK-N-SH	brain:	n/a
2	chr21:46706820-46706870	K562	blood:	n/a
3	chr21:46708965-46709015	SK-N-SH	brain:	n/a
4	chr21:46706820-46706870	K562	blood:	n/a
5	chr21:46707781-46707831	LNCaP	prostate:	n/a
6	chr21:46708178-46708228	PrEC	prostate:	n/a
7	chr21:46708497-46708547	HMEC	breast:	n/a
8	chr21:46706759-46706809	HCT-116	colon:	n/a
9	chr21:46708178-46708228	SAEC	small airway:	n/a
10	chr21:46707781-46707831	HCPEpiC	choroid plexus:	n/a
11	chr21:46708506-46708556	SKMC	muscle:	n/a
12	chr21:46708041-46708091	PANC-1	pancreas:	n/a
13	chr21:46708029-46708079	T-47D	breast:	n/a
14	chr21:46708029-46708079	SK-N-MC	brain:	n/a
15	chr21:46706759-46706809	Jurkat	blood:	n/a
16	chr21:46708497-46708547	AG10803	skin:	n/a
17	chr21:46706579-46706629	Hela-S3	cervix:	n/a
18	chr21:46707857-46707907	RPTEC	kidney:	n/a
19	chr21:46707012-46707062	ovcar-3	ovarian:	n/a
20	chr21:46706759-46706809	HMEC	breast:	n/a
21	chr21:46707842-46707892	MCF10A-Er-Src	breast:	n/a
22	chr21:46706579-46706629	MCF-7	breast:	n/a
23	chr21:46708506-46708556	AG09309	skin:	n/a
24	chr21:46707857-46707907	BJ	skin:	n/a
25	chr21:46706579-46706629	GM06990	blood:	n/a
26	chr21:46707781-46707831	NHDF-neo	bronchial:	n/a
27	chr21:46707857-46707907	HRE	kidney:	n/a
28	chr21:46708041-46708091	HCM	heart:	n/a
29	chr21:46706579-46706629	IMR90	lung:	fetal
30	chr21:46706579-46706629	Caco-2	colon:	n/a
31	chr21:46708965-46709015	Hepatocyte	liver:	n/a
32	chr21:46708041-46708091	SK-N-SH_RA	brain:	n/a
33	chr21:46707781-46707831	HRCEpiC	kidney:	n/a
34	chr21:46706579-46706629	PrEC	prostate:	n/a
35	chr21:46707781-46707831	HIPEpiC	eye:	n/a
36	chr21:46707872-46707922	PANC-1	pancreas:	n/a
37	chr21:46708506-46708556	HRCEpiC	kidney:	n/a
38	chr21:46706759-46706809	GM12878	blood:	n/a
39	chr21:46707951-46708001	AG04449	skin:	fetal
40	chr21:46706820-46706870	HMEC	breast:	n/a
41	chr21:46708506-46708556	HCPEpiC	choroid plexus:	n/a
42	chr21:46707012-46707062	SAEC	small airway:	n/a
43	chr21:46706579-46706629	NHDF-neo	bronchial:	n/a
44	chr21:46707012-46707062	Hela-S3	cervix:	n/a
45	chr21:46708497-46708547	AG04449	skin:	fetal
46	chr21:46708965-46709015	AG10803	skin:	n/a
47	chr21:46708965-46709015	HMEC	breast:	n/a
48	chr21:46708178-46708228	GM12892	blood:	n/a
49	chr21:46707857-46707907	AG10803	skin:	n/a
50	chr21:46708497-46708547	GM12891	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46707942..46709633-chr21:46962213..46963718,2	MCF-7	breast:
2	chr21:46689820..46691425-chr21:46707957..46710383,2	K562	blood:
3	chr21:46706857..46709577-chr21:46709955..46714044,8	K562	blood:
4	chr21:46494154..46496164-chr21:46707875..46710753,3	K562	blood:
5	chr21:46706802..46709243-chr21:46824700..46827773,3	MCF-7	breast:
6	chr21:46703766..46705342-chr21:46705626..46707711,2	K562	blood:
7	chr21:46708041..46709626-chr21:46889364..46891279,2	MCF-7	breast:
8	chr21:46709020..46713873-chr21:46844930..46849148,6	MCF-7	breast:
9	chr21:46707102..46709739-chr21:46924604..46928749,4	K562	blood:
10	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
11	chr21:46706028..46707678-chr21:46824920..46827021,2	MCF-7	breast:
12	chr21:46708303..46710406-chr21:46781608..46784032,2	MCF-7	breast:
13	chr21:46558828..46560787-chr21:46708132..46710306,2	K562	blood:
14	chr21:46698591..46703521-chr21:46706207..46708797,6	K562	blood:
15	chr21:46689925..46691815-chr21:46705952..46709457,3	K562	blood:
16	chr21:46707421..46709618-chr21:46710328..46714044,7	K562	blood:
17	chr21:46708105..46709670-chr21:46840415..46842231,2	MCF-7	breast:
18	chr21:46706241..46708777-chr21:46961414..46964392,3	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-3	chr21:46708125-46708159	XLOC_013981
2	lnc-ADARB1-3	chr21:46707965-46708159	XLOC_013981
3	lnc-ADARB1-3	chr21:46708891-46709156	XLOC_013981
4	lnc-ADARB1-3	chr21:46708063-46708080	XLOC_013981
5	lnc-ADARB1-3	chr21:46708891-46709414	XLOC_013981
6	lnc-ADARB1-3	chr21:46708015-46708080	XLOC_013981
7	lnc-ADARB1-3	chr21:46707967-46708159	ENSG00000215447
8	lnc-ADARB1-3	chr21:46707967-46708159	NONHSAT082933
9	lnc-ADARB1-3	chr21:46707977-46708080	XLOC_013981
10	lnc-ADARB1-3	chr21:46707967-46708159	XLOC_013981
11	lnc-ADARB1-3	chr21:46707976-46708080	XLOC_013981

No data

Variant related genes	Relation type
LINC00205	TF binding region
ENSG00000215447	TF binding region
POFUT2	TF binding region
LINC00205	CpG island
ENSG00000215447	CpG island
POFUT2	CpG island
ENSG00000183535	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000182871	chromatin interactions
NR4A1	miRNA target sites
ERI1	miRNA target sites
TRIM29	miRNA target sites

Extended variants
information (count: 104 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532425385	chr21:46706331-46706332	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs550671669	chr21:46706335-46706336	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs150212796	chr21:46706400-46706401	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs370121047	chr21:46706425-46706426	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs536468910	chr21:46706428-46706429	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs138902940	chr21:46706429-46706430	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs62214407	chr21:46706450-46706451	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs534553958	chr21:46706469-46706470	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs370538733	chr21:46706510-46706511	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs114735385	chr21:46706565-46706566	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs576916547	chr21:46706576-46706577	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374254360	chr21:46706581-46706582	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544288746	chr21:46706610-46706611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs556314418	chr21:46706632-46706633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs574504200	chr21:46706644-46706645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs117082966	chr21:46706649-46706650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs560336395	chr21:46706659-46706660	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs527588170	chr21:46706687-46706688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs546085509	chr21:46706709-46706710	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs564898545	chr21:46706727-46706728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs73236082	chr21:46706732-46706733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs199918354	chr21:46706768-46706769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs568992418	chr21:46706791-46706792	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs199687483	chr21:46706795-46706796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs551929985	chr21:46706853-46706854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs548491350	chr21:46706918-46706919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs112043097	chr21:46706919-46706920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs534185628	chr21:46707061-46707062	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs113718151	chr21:46707171-46707172	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs552919698	chr21:46707337-46707338	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs570432468	chr21:46707338-46707339	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs7279129	chr21:46707367-46707368	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs556231019	chr21:46707381-46707382	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs574439321	chr21:46707400-46707401	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs535584214	chr21:46707471-46707472	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs190868720	chr21:46707475-46707476	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs553640150	chr21:46707485-46707486	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs572217409	chr21:46707554-46707555	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs545661874	chr21:46707570-46707571	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs564063734	chr21:46707572-46707573	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs575961694	chr21:46707607-46707608	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs548542075	chr21:46707617-46707618	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs544189037	chr21:46707629-46707630	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs371337628	chr21:46707688-46707689	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs562946451	chr21:46707690-46707691	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs373102159	chr21:46707734-46707735	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs530089816	chr21:46707750-46707751	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs377224822	chr21:46707760-46707761	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs548671933	chr21:46707780-46707781	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs370576674	chr21:46707792-46707793	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46669200-46706600	Weak transcription	Right Atrium	heart
2	chr21:46687800-46706600	Weak transcription	HMEC	breast
3	chr21:46692400-46706400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46693200-46706600	Strong transcription	Primary T cells from cord blood	blood
5	chr21:46694800-46706400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:46694800-46706400	Strong transcription	Fetal Stomach	stomach
7	chr21:46695000-46706400	Strong transcription	Fetal Intestine Small	intestine
8	chr21:46695800-46706400	Weak transcription	Fetal Brain Male	brain
9	chr21:46695800-46706400	Weak transcription	Fetal Heart	heart
10	chr21:46697600-46706400	Weak transcription	Stomach Mucosa	stomach
11	chr21:46700600-46706600	Weak transcription	Psoas Muscle	Psoas
12	chr21:46700800-46706600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:46704000-46706400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:46704200-46706400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:46704600-46706400	Strong transcription	Hela-S3	cervix
16	chr21:46704800-46706400	Weak transcription	Small Intestine	intestine
17	chr21:46704800-46706600	Weak transcription	A549	lung
18	chr21:46705000-46706400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:46705200-46706400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:46705200-46706400	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr21:46705400-46706400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:46705600-46706400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:46705600-46706400	Weak transcription	Primary B cells from cord blood	blood
24	chr21:46705600-46706400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr21:46705600-46706400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr21:46705600-46706400	Weak transcription	GM12878-XiMat	blood
27	chr21:46705600-46706600	Weak transcription	Brain Substantia Nigra	brain
28	chr21:46705600-46706600	Enhancers	Pancreas	Pancrea
29	chr21:46705800-46706400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:46705800-46706400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:46705800-46706400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46705800-46706400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr21:46705800-46706600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:46705800-46706600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:46705800-46706600	Weak transcription	Esophagus	oesophagus
36	chr21:46706000-46706400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:46706000-46706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:46706000-46706400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr21:46706000-46706400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr21:46706000-46706400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:46706000-46706400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:46706000-46706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:46706000-46706400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:46706000-46706400	Weak transcription	Liver	Liver
45	chr21:46706000-46706400	Enhancers	Brain Angular Gyrus	brain
46	chr21:46706000-46706400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr21:46706000-46706400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:46706000-46706400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:46706000-46706400	Genic enhancers	Fetal Brain Female	brain
50	chr21:46706000-46706400	Weak transcription	Fetal Intestine Large	intestine

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