Variant report

Variant	nsv1009955
Chromosome Location	chr1:144880316-144935874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1624)
CpG islands
(count:1404)
Chromatin interactive
region (count:113)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
5	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
6	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
7	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
8	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
9	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
10	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
11	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
12	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
14	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
15	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
19	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
20	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
21	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
22	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:144908224-144908540	GM12878	blood:	n/a	n/a
24	BCL11A	chr1:144908211-144908941	GM12878	blood:	n/a	n/a
25	BCL3	chr1:144931803-144933017	A549	lung:	n/a	chr1:144932014-144932027 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144932058-144932071 chr1:144932171-144932179
26	BCLAF1	chr1:144931095-144932686	GM12878	blood:	n/a	chr1:144932014-144932027 chr1:144931744-144931753 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144931747-144931756 chr1:144931740-144931753 chr1:144931749-144931762 chr1:144931743-144931756 chr1:144932058-144932071 chr1:144931741-144931750 chr1:144931742-144931755 chr1:144932171-144932179
27	BHLHE40	chr1:144918068-144918289	GM12878	blood:	n/a	n/a
28	BHLHE40	chr1:144931358-144932896	GM12878	blood:	n/a	chr1:144931851-144931867 chr1:144931740-144931756 chr1:144932069-144932085
29	BHLHE40	chr1:144921698-144922064	HepG2	liver:	n/a	n/a
30	BHLHE40	chr1:144887736-144887832	K562	blood:	n/a	n/a
31	BHLHE40	chr1:144881409-144881640	K562	blood:	n/a	n/a
32	BHLHE40	chr1:144907946-144908684	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:144935383-144935704	GM12878	blood:	n/a	n/a
34	BRCA1	chr1:144916619-144916671	GM12878	blood:	n/a	n/a
35	BRCA1	chr1:144931824-144932592	HepG2	liver:	n/a	n/a
36	BRCA1	chr1:144931904-144933128	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:144912899-144912910	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr1:144932110-144933073	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr1:144932346-144932836	GM12878	blood:	n/a	n/a
40	CBX3	chr1:144931897-144932645	K562	blood:	n/a	n/a
41	CCNT2	chr1:144881870-144882070	K562	blood:	n/a	n/a
42	CCNT2	chr1:144931633-144932040	K562	blood:	n/a	chr1:144931905-144931914
43	CCNT2	chr1:144881456-144881641	K562	blood:	n/a	n/a
44	CCNT2	chr1:144932320-144932515	K562	blood:	n/a	n/a
45	CEBPB	chr1:144931467-144931677	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:144891731-144892054	MCF-7	breast:	n/a	n/a
47	CEBPB	chr1:144931985-144932687	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr1:144921569-144922100	HepG2	liver:	n/a	chr1:144921733-144921744 chr1:144921732-144921743
49	CEBPB	chr1:144914535-144914897	K562	blood:	n/a	chr1:144914701-144914712
50	CEBPB	chr1:144932072-144932369	HepG2	liver:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144913803-144913853	HIPEpiC	eye:	n/a
2	chr1:144913803-144913853	HIPEpiC	eye:	n/a
3	chr1:144892111-144892161	AG09319	gingival:	n/a
4	chr1:144932136-144932186	GM19239	blood:	n/a
5	chr1:144935409-144935459	SK-N-MC	brain:	n/a
6	chr1:144892111-144892161	HNPCEpiC	eye:	n/a
7	chr1:144928806-144928856	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:144913803-144913853	ovcar-3	ovarian:	n/a
9	chr1:144931862-144931912	SK-N-MC	brain:	n/a
10	chr1:144887235-144887285	AG10803	skin:	n/a
11	chr1:144931966-144932016	IMR90	lung:	fetal
12	chr1:144932136-144932186	NHBE	bronchial:	n/a
13	chr1:144913803-144913853	Caco-2	colon:	n/a
14	chr1:144932476-144932526	SK-N-SH	brain:	n/a
15	chr1:144931476-144931526	NB4	blood:	n/a
16	chr1:144931862-144931912	HMEC	breast:	n/a
17	chr1:144932625-144932675	SK-N-SH_RA	brain:	n/a
18	chr1:144931862-144931912	HNPCEpiC	eye:	n/a
19	chr1:144931476-144931526	SK-N-SH	brain:	n/a
20	chr1:144932136-144932186	K562	blood:	n/a
21	chr1:144932207-144932257	PFSK-1	brain:	n/a
22	chr1:144932207-144932257	LNCaP	prostate:	n/a
23	chr1:144913803-144913853	AG10803	skin:	n/a
24	chr1:144931980-144932030	GM12891	blood:	n/a
25	chr1:144913803-144913853	CMK	blood:	n/a
26	chr1:144926986-144927036	NT2-D1	testis:	n/a
27	chr1:144932625-144932675	HEEpiC	esophagus:	n/a
28	chr1:144932227-144932277	HMEC	breast:	n/a
29	chr1:144928806-144928856	Hela-S3	cervix:	n/a
30	chr1:144932625-144932675	Jurkat	blood:	n/a
31	chr1:144931379-144931429	BE2_C	brain:	n/a
32	chr1:144932476-144932526	HEEpiC	esophagus:	n/a
33	chr1:144932311-144932361	SKMC	muscle:	n/a
34	chr1:144892566-144892616	HCPEpiC	choroid plexus:	n/a
35	chr1:144932476-144932526	ECC-1	luminal epithelium:	n/a
36	chr1:144932625-144932675	RPTEC	kidney:	n/a
37	chr1:144932311-144932361	GM12892	blood:	n/a
38	chr1:144928806-144928856	AG10803	skin:	n/a
39	chr1:144932625-144932675	PANC-1	pancreas:	n/a
40	chr1:144932914-144932964	NB4	blood:	n/a
41	chr1:144931980-144932030	HEK293	kidney:	embryo
42	chr1:144931966-144932016	NH-A	brain:	n/a
43	chr1:144931862-144931912	GM12878	blood:	n/a
44	chr1:144932136-144932186	LNCaP	prostate:	n/a
45	chr1:144932311-144932361	AG04450	lung:	fetal
46	chr1:144887235-144887285	NHBE	bronchial:	n/a
47	chr1:144887235-144887285	PrEC	prostate:	n/a
48	chr1:144932914-144932964	GM12891	blood:	n/a
49	chr1:144932476-144932526	HCM	heart:	n/a
50	chr1:144892111-144892161	LNCaP	prostate:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:144916772..144918364-chr1:145096684..145098671,2	MCF-7	breast:
2	chr1:144922144..144925989-chr1:144935346..144938648,3	K562	blood:
3	chr1:144917599..144919150-chr1:144929052..144931824,2	K562	blood:
4	chr1:144925057..144927728-chr1:145381929..145384283,2	MCF-7	breast:
5	chr1:144891445..144893339-chr1:146502271..146504240,2	MCF-7	breast:
6	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
7	chr1:144930971..144932699-chr1:145382569..145384639,2	MCF-7	breast:
8	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
9	chr1:144923461..144926279-chr1:144929594..144932453,4	K562	blood:
10	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
11	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
12	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
13	chr1:144929981..144935077-chr1:145095230..145100493,10	MCF-7	breast:
14	chr1:144932022..144932702-chr7:1569907..1570774,2	Hela-S3	cervix:
15	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
16	chr1:144928277..144930324-chr1:145037550..145040548,2	MCF-7	breast:
17	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
18	chr1:144928918..144931481-chr1:145062129..145063729,2	MCF-7	breast:
19	chr1:144921598..144924322-chr1:145043431..145046394,2	K562	blood:
20	chr1:144928885..144930474-chr1:144935425..144937244,2	K562	blood:
21	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
22	chr1:144933330..144935038-chr1:144937428..144939924,2	K562	blood:
23	chr1:144926702..144928514-chr1:144928774..144930808,3	K562	blood:
24	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
25	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
26	chr1:144931658..144932278-chr6:30711843..30712705,2	HCT-116	colon:
27	chr1:144928278..144930809-chr1:145113028..145115664,2	MCF-7	breast:
28	chr1:144932233..144932787-chr9:35657699..35658670,2	MCF-7	breast:
29	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
30	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
31	chr1:144891174..144892693-chr1:144930887..144933429,2	MCF-7	breast:
32	chr1:144933246..144935275-chr11:64863413..64865438,2	MCF-7	breast:
33	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
34	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
35	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
36	chr1:144917701..144918598-chr1:145059017..145059574,2	MCF-7	breast:
37	chr1:144917927..144918738-chr1:145057991..145059601,5	K562	blood:
38	chr1:144931527..144934135-chr2:172948979..172951801,2	MCF-7	breast:
39	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
40	chr1:144925446..144929176-chr1:145057629..145060761,3	MCF-7	breast:
41	chr1:144920944..144925051-chr1:144925584..144929146,5	K562	blood:
42	chr1:144913341..144914857-chr1:144914948..144916749,2	K562	blood:
43	chr1:144932256..144932802-chr2:8821849..8822771,2	HCT-116	colon:
44	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
45	chr1:144931917..144932538-chr1:144989172..144989676,2	MCF-7	breast:
46	chr1:144925900..144930140-chr1:144930950..144934648,7	K562	blood:
47	chr1:144921129..144925054-chr1:144925916..144930718,5	K562	blood:
48	chr1:144929876..144935601-chr1:144987785..144996108,12	MCF-7	breast:
49	chr1:144908156..144910754-chr1:144927017..144928830,2	MCF-7	breast:
50	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:

No data

Variant related genes	Relation type
PDE4DIP	TF binding region
PDE4DIP	CpG island
ENSG00000108846	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000269900	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000198517	chromatin interactions

Extended variants
information (count: 2423 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:2423 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371694072	chr1:144880328-144880329	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs587699306	chr1:144880331-144880332	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587605812	chr1:144880346-144880347	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1699838	chr1:144880377-144880378	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs587669360	chr1:144880397-144880398	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs587726785	chr1:144880423-144880424	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587603434	chr1:144880433-144880434	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs151172928	chr1:144880460-144880461	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185056518	chr1:144880487-144880488	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587733381	chr1:144880557-144880558	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs201472741	chr1:144880587-144880588	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs587603927	chr1:144880595-144880596	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs587666710	chr1:144880634-144880635	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs587740239	chr1:144880637-144880638	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs587627990	chr1:144880657-144880658	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs587707258	chr1:144880669-144880670	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs587764308	chr1:144880679-144880680	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374917750	chr1:144880692-144880693	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs71664010	chr1:144880693-144880694	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111974457	chr1:144880696-144880697	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs587713410	chr1:144880721-144880722	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs587751087	chr1:144880722-144880723	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs377586534	chr1:144880725-144880726	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs587641515	chr1:144880732-144880733	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201929653	chr1:144880733-144880734	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs372435136	chr1:144880749-144880750	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs587764830	chr1:144880762-144880763	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs587646978	chr1:144880763-144880764	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs201075170	chr1:144880768-144880769	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs376696017	chr1:144880779-144880780	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs587601326	chr1:144880781-144880782	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs587653191	chr1:144880784-144880785	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs1747960	chr1:144880814-144880815	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375597973	chr1:144880828-144880829	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs12568796	chr1:144880832-144880833	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6671551	chr1:144880834-144880835	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs369056097	chr1:144880859-144880860	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs71664011	chr1:144880864-144880865	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs587707447	chr1:144880865-144880866	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368233690	chr1:144880878-144880879	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs587610526	chr1:144880924-144880925	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs587667628	chr1:144880929-144880930	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs587729112	chr1:144880945-144880946	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs587627267	chr1:144880962-144880963	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs587682778	chr1:144880968-144880969	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs587760236	chr1:144880974-144880975	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs587633449	chr1:144881043-144881044	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs587694225	chr1:144881087-144881088	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs587722191	chr1:144881147-144881148	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs587633974	chr1:144881170-144881171	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:167)

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
Breast cancer	22522925	CNVD

Chromatin state (count:2900 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144843800-144880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:144850000-144883200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr1:144850000-144883600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr1:144850000-144883800	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr1:144850000-144885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:144850000-144886200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:144850000-144886200	Strong transcription	Osteobl	bone
8	chr1:144850000-144886400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr1:144850400-144883400	Strong transcription	Fetal Brain Female	brain
11	chr1:144850400-144886200	Strong transcription	HSMMtube	muscle
12	chr1:144850400-144886600	Strong transcription	Adipose Nuclei	Adipose
13	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
14	chr1:144851200-144884400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:144851600-144884000	Strong transcription	Placenta	Placenta
16	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
17	chr1:144854200-144886000	Weak transcription	Right Atrium	heart
18	chr1:144859800-144880600	Strong transcription	K562	blood
19	chr1:144860200-144886600	Strong transcription	HSMM	muscle
20	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:144860400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:144860400-144886200	Strong transcription	Brain Substantia Nigra	brain
23	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:144861200-144882000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:144861400-144883200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:144861400-144884800	Strong transcription	NHDF-Ad	bronchial
27	chr1:144861400-144886800	Strong transcription	Brain Hippocampus Middle	brain
28	chr1:144861400-144887200	Strong transcription	Aorta	Aorta
29	chr1:144861800-144883000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:144861800-144883000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:144861800-144883200	Strong transcription	Fetal Stomach	stomach
32	chr1:144861800-144883200	Strong transcription	Right Ventricle	heart
33	chr1:144861800-144883400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:144861800-144884600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:144861800-144885200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:144862200-144883600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:144863200-144882200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:144864400-144883800	Strong transcription	Fetal Brain Male	brain
39	chr1:144866400-144886400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:144866400-144887200	Weak transcription	HUVEC	blood vessel
41	chr1:144866800-144888000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:144867400-144883800	Strong transcription	Fetal Heart	heart
43	chr1:144867800-144883200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:144868600-144892400	Weak transcription	Fetal Thymus	thymus
45	chr1:144869200-144883200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:144869200-144885000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:144869200-144886400	Strong transcription	NHLF	lung
48	chr1:144869400-144883800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:144869400-144885200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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