Variant report

Variant	esv1010993
Chromosome Location	chr1:144881391-144919679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:662)
CpG islands
(count:245)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
2	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
4	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
5	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
6	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
7	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
8	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
9	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
10	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
11	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
12	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
13	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:144908224-144908540	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:144908211-144908941	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:144887736-144887832	K562	blood:	n/a	n/a
17	BHLHE40	chr1:144881409-144881640	K562	blood:	n/a	n/a
18	BHLHE40	chr1:144918068-144918289	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:144907946-144908684	GM12878	blood:	n/a	n/a
20	BRCA1	chr1:144916619-144916671	GM12878	blood:	n/a	n/a
21	BRCA1	chr1:144912899-144912910	Hela-S3	cervix:	n/a	n/a
22	CCNT2	chr1:144881456-144881641	K562	blood:	n/a	n/a
23	CCNT2	chr1:144881870-144882070	K562	blood:	n/a	n/a
24	CEBPB	chr1:144891727-144892119	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr1:144893629-144894043	K562	blood:	n/a	n/a
26	CEBPB	chr1:144884908-144885062	IMR90	lung:	n/a	chr1:144884984-144884995
27	CEBPB	chr1:144914606-144914806	Hela-S3	cervix:	n/a	chr1:144914701-144914712
28	CEBPB	chr1:144888759-144889027	HepG2	liver:	n/a	chr1:144888868-144888881 chr1:144888889-144888900 chr1:144888889-144888902
29	CEBPB	chr1:144884893-144885058	HepG2	liver:	n/a	chr1:144884984-144884995
30	CEBPB	chr1:144891851-144892054	A549	lung:	n/a	n/a
31	CEBPB	chr1:144914532-144914875	A549	lung:	n/a	chr1:144914701-144914712
32	CEBPB	chr1:144888845-144889029	A549	lung:	n/a	chr1:144888868-144888881 chr1:144888889-144888900 chr1:144888889-144888902
33	CEBPB	chr1:144918083-144918206	K562	blood:	n/a	n/a
34	CEBPB	chr1:144908669-144909024	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:144891560-144892204	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:144891731-144892054	MCF-7	breast:	n/a	n/a
37	CEBPB	chr1:144917779-144918365	K562	blood:	n/a	n/a
38	CEBPB	chr1:144884889-144885111	Hela-S3	cervix:	n/a	chr1:144884984-144884995
39	CEBPB	chr1:144914547-144914797	IMR90	lung:	n/a	chr1:144914701-144914712
40	CEBPB	chr1:144914541-144914847	H1-hESC	embryonic stem cell:	n/a	chr1:144914701-144914712
41	CEBPB	chr1:144888855-144888901	K562	blood:	n/a	chr1:144888868-144888881 chr1:144888889-144888900
42	CEBPB	chr1:144893700-144894047	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:144893745-144893973	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:144918060-144918316	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:144884857-144885106	K562	blood:	n/a	chr1:144884984-144884995
46	CEBPB	chr1:144886646-144886811	K562	blood:	n/a	n/a
47	CEBPB	chr1:144893729-144893974	K562	blood:	n/a	n/a
48	CEBPB	chr1:144914533-144914855	HepG2	liver:	n/a	chr1:144914701-144914712
49	CEBPB	chr1:144914535-144914897	K562	blood:	n/a	chr1:144914701-144914712
50	CEBPD	chr1:144886542-144887059	K562	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144913803-144913853	HCT-116	colon:	n/a
2	chr1:144913803-144913853	HCT-116	colon:	n/a
3	chr1:144887235-144887285	HNPCEpiC	eye:	n/a
4	chr1:144913803-144913853	PrEC	prostate:	n/a
5	chr1:144892566-144892616	NB4	blood:	n/a
6	chr1:144887235-144887285	HIPEpiC	eye:	n/a
7	chr1:144887235-144887285	HL-60	blood:	n/a
8	chr1:144892111-144892161	PANC-1	pancreas:	n/a
9	chr1:144892111-144892161	Hepatocyte	liver:	n/a
10	chr1:144913803-144913853	Caco-2	colon:	n/a
11	chr1:144887235-144887285	HCM	heart:	n/a
12	chr1:144887235-144887285	PANC-1	pancreas:	n/a
13	chr1:144913803-144913853	HRCEpiC	kidney:	n/a
14	chr1:144913803-144913853	PANC-1	pancreas:	n/a
15	chr1:144892566-144892616	U87	brain:	n/a
16	chr1:144892566-144892616	GM12891	blood:	n/a
17	chr1:144913803-144913853	NHBE	bronchial:	n/a
18	chr1:144887235-144887285	MCF10A-Er-Src	breast:	n/a
19	chr1:144913803-144913853	HUVEC	blood vessel:	n/a
20	chr1:144892111-144892161	PFSK-1	brain:	n/a
21	chr1:144913803-144913853	AG09309	skin:	n/a
22	chr1:144892111-144892161	GM06990	blood:	n/a
23	chr1:144892111-144892161	HNPCEpiC	eye:	n/a
24	chr1:144892111-144892161	LNCaP	prostate:	n/a
25	chr1:144892566-144892616	BE2_C	brain:	n/a
26	chr1:144887235-144887285	AG04449	skin:	fetal
27	chr1:144913803-144913853	Hepatocyte	liver:	n/a
28	chr1:144892111-144892161	GM12891	blood:	n/a
29	chr1:144913803-144913853	U87	brain:	n/a
30	chr1:144887235-144887285	ProgFib	skin:	n/a
31	chr1:144892111-144892161	NB4	blood:	n/a
32	chr1:144892566-144892616	PFSK-1	brain:	n/a
33	chr1:144892111-144892161	MCF-7	breast:	n/a
34	chr1:144887235-144887285	ovcar-3	ovarian:	n/a
35	chr1:144887235-144887285	GM06990	blood:	n/a
36	chr1:144892566-144892616	ProgFib	skin:	n/a
37	chr1:144892566-144892616	HRE	kidney:	n/a
38	chr1:144892111-144892161	Jurkat	blood:	n/a
39	chr1:144892111-144892161	HRCEpiC	kidney:	n/a
40	chr1:144892566-144892616	HCF	heart:	n/a
41	chr1:144892566-144892616	HCPEpiC	choroid plexus:	n/a
42	chr1:144887235-144887285	Caco-2	colon:	n/a
43	chr1:144892111-144892161	RPTEC	kidney:	n/a
44	chr1:144887235-144887285	LNCaP	prostate:	n/a
45	chr1:144892111-144892161	U87	brain:	n/a
46	chr1:144892111-144892161	SK-N-MC	brain:	n/a
47	chr1:144892111-144892161	PrEC	prostate:	n/a
48	chr1:144892566-144892616	Hela-S3	cervix:	n/a
49	chr1:144887235-144887285	GM12892	blood:	n/a
50	chr1:144892566-144892616	Caco-2	colon:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
2	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
3	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
4	chr1:144913341..144914857-chr1:144914948..144916749,2	K562	blood:
5	chr1:144911399..144913167-chr1:144914593..144916227,2	MCF-7	breast:
6	chr1:144917701..144918598-chr1:145059017..145059574,2	MCF-7	breast:
7	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
8	chr1:144893446..144895237-chr1:144930953..144933183,2	MCF-7	breast:
9	chr1:144891174..144892693-chr1:144930887..144933429,2	MCF-7	breast:
10	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
11	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
12	chr1:144911399..144913167-chr1:144914593..144916227,2	MCF-7	breast:
13	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
14	chr1:144917927..144918738-chr1:145057991..145059601,5	K562	blood:
15	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
16	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
17	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
18	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
19	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
20	chr1:144912685..144914252-chr1:144947438..144950034,2	K562	blood:
21	chr1:144855730..144858367-chr1:144880531..144882326,2	MCF-7	breast:
22	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
23	chr1:144891445..144893339-chr1:146502271..146504240,2	MCF-7	breast:
24	chr1:144889740..144892703-chr1:146500075..146502138,3	MCF-7	breast:
25	chr1:144917479..144918148-chr1:145066148..145066847,2	K562	blood:
26	chr1:144919025..144921038-chr1:145058900..145061668,2	K562	blood:
27	chr1:144908995..144910553-chr1:144913596..144915672,2	K562	blood:
28	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:
29	chr1:144892599..144896749-chr1:144930798..144933879,5	MCF-7	breast:
30	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
31	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
32	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
33	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
34	chr1:144916772..144918364-chr1:145096684..145098671,2	MCF-7	breast:
35	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
36	chr1:144917778..144918636-chr1:147553160..147554160,3	MCF-7	breast:
37	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
38	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
39	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
40	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
41	chr1:144916627..144918753-chr1:144920547..144922373,2	K562	blood:
42	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
43	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
44	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
45	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
46	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
47	chr1:144917990..144918581-chr1:145061611..145062219,2	MCF-7	breast:
48	chr1:144917532..144918295-chr20:53090253..53091159,2	MCF-7	breast:
49	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
50	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:

No data

Variant related genes	Relation type
PDE4DIP	TF binding region
PDE4DIP	CpG island
ENSG00000255148	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000186174	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 166 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201745583	chr1:144881416-144881417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs587594987	chr1:144881423-144881424	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs148809296	chr1:144881436-144881437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370838321	chr1:144881439-144881440	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373251040	chr1:144881457-144881458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs150932980	chr1:144881458-144881459	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs147815016	chr1:144881463-144881464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587735231	chr1:144881511-144881512	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs587628882	chr1:144881513-144881514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs367810691	chr1:144881516-144881517	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141315681	chr1:144881520-144881521	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587745208	chr1:144881524-144881525	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs587618483	chr1:144881535-144881536	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371552977	chr1:144881539-144881540	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs587700286	chr1:144881542-144881543	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs587757882	chr1:144881546-144881547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs138083036	chr1:144881547-144881548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368511547	chr1:144881548-144881549	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201693068	chr1:144881549-144881550	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200626514	chr1:144881564-144881565	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs199509148	chr1:144881578-144881579	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2762877	chr1:144881583-144881584	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142008389	chr1:144881592-144881593	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs141944401	chr1:144881595-144881596	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376549207	chr1:144881600-144881601	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587704579	chr1:144881624-144881625	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs587773645	chr1:144881626-144881627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs587658214	chr1:144881635-144881636	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs369485434	chr1:144881640-144881641	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs587737850	chr1:144881661-144881662	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs71664012	chr1:144881666-144881667	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373445981	chr1:144881668-144881669	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs587619492	chr1:144881669-144881670	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200648721	chr1:144881672-144881673	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587709686	chr1:144881680-144881681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs587612268	chr1:144881681-144881682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs937714	chr1:144881711-144881712	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587657830	chr1:144881714-144881715	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs587744969	chr1:144881782-144881783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs587622185	chr1:144881783-144881784	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587677663	chr1:144881808-144881809	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs924672	chr1:144881840-144881841	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs199972907	chr1:144881887-144881888	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587742943	chr1:144881891-144881892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs587610275	chr1:144881919-144881920	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs587696349	chr1:144881979-144881980	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs587744601	chr1:144881991-144881992	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs937713	chr1:144882009-144882010	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs587624067	chr1:144882034-144882035	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs587702652	chr1:144882128-144882129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:166)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD

Chromatin state (count:1412 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144850000-144883200	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr1:144850000-144883600	Strong transcription	Duodenum Mucosa	Duodenum
3	chr1:144850000-144883800	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr1:144850000-144885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:144850000-144886200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:144850000-144886200	Strong transcription	Osteobl	bone
7	chr1:144850000-144886400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr1:144850400-144883400	Strong transcription	Fetal Brain Female	brain
10	chr1:144850400-144886200	Strong transcription	HSMMtube	muscle
11	chr1:144850400-144886600	Strong transcription	Adipose Nuclei	Adipose
12	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
13	chr1:144851200-144884400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:144851600-144884000	Strong transcription	Placenta	Placenta
15	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
16	chr1:144854200-144886000	Weak transcription	Right Atrium	heart
17	chr1:144860200-144886600	Strong transcription	HSMM	muscle
18	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:144860400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:144860400-144886200	Strong transcription	Brain Substantia Nigra	brain
21	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:144861200-144882000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:144861400-144883200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:144861400-144884800	Strong transcription	NHDF-Ad	bronchial
25	chr1:144861400-144886800	Strong transcription	Brain Hippocampus Middle	brain
26	chr1:144861400-144887200	Strong transcription	Aorta	Aorta
27	chr1:144861800-144883000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:144861800-144883000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:144861800-144883200	Strong transcription	Fetal Stomach	stomach
30	chr1:144861800-144883200	Strong transcription	Right Ventricle	heart
31	chr1:144861800-144883400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:144861800-144884600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:144861800-144885200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:144862200-144883600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:144863200-144882200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:144864400-144883800	Strong transcription	Fetal Brain Male	brain
37	chr1:144866400-144886400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:144866400-144887200	Weak transcription	HUVEC	blood vessel
39	chr1:144866800-144888000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:144867400-144883800	Strong transcription	Fetal Heart	heart
41	chr1:144867800-144883200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:144868600-144892400	Weak transcription	Fetal Thymus	thymus
43	chr1:144869200-144883200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:144869200-144885000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:144869200-144886400	Strong transcription	NHLF	lung
46	chr1:144869400-144883800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:144869400-144885200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:144870600-144883200	Strong transcription	NHEK	skin
50	chr1:144871000-144883200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links