Variant report

Variant	nsv435736
Chromosome Location	chr1:144709964-144987027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3113)
CpG islands
(count:1959)
Chromatin interactive
region (count:165)
LncRNA
region (count:73)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3113 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:144938243-144938360	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
4	ARID3A	chr1:144937109-144937725	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
6	ARID3A	chr1:144853386-144853575	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
9	ARID3A	chr1:144938874-144939338	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
13	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
14	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
15	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
17	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
18	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
20	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
21	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
23	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
25	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
26	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
27	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
28	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
29	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
30	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
31	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
32	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
33	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
34	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
35	BATF	chr1:144954925-144955119	GM12878	blood:	n/a	n/a
36	BATF	chr1:144839402-144839606	GM12878	blood:	n/a	n/a
37	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
38	BATF	chr1:144965596-144965880	GM12878	blood:	n/a	chr1:144965602-144965610 chr1:144965715-144965724
39	BATF	chr1:144840227-144840482	GM12878	blood:	n/a	n/a
40	BATF	chr1:144954919-144955123	GM12878	blood:	n/a	n/a
41	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
42	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
43	BATF	chr1:144965985-144966330	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144832400-144832824	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144811376-144811736	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144822517-144822688	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144831131-144831365	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144829792-144829953	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:144816834-144816993	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144828835-144829095	GM12878	blood:	n/a	n/a

(count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144935409-144935459	SK-N-MC	brain:	n/a
2	chr1:144811373-144811423	NB4	blood:	n/a
3	chr1:144852047-144852097	HNPCEpiC	eye:	n/a
4	chr1:144942354-144942404	IMR90	lung:	fetal
5	chr1:144935409-144935459	HCM	heart:	n/a
6	chr1:144859929-144859979	ProgFib	skin:	n/a
7	chr1:144931379-144931429	HCF	heart:	n/a
8	chr1:144935409-144935459	SK-N-MC	brain:	n/a
9	chr1:144811373-144811423	NB4	blood:	n/a
10	chr1:144852047-144852097	HNPCEpiC	eye:	n/a
11	chr1:144942354-144942404	IMR90	lung:	fetal
12	chr1:144935409-144935459	HCM	heart:	n/a
13	chr1:144859929-144859979	ProgFib	skin:	n/a
14	chr1:144931379-144931429	HCF	heart:	n/a
15	chr1:144942354-144942404	HL-60	blood:	n/a
16	chr1:144931975-144932025	HIPEpiC	eye:	n/a
17	chr1:144811373-144811423	GM12878	blood:	n/a
18	chr1:144931379-144931429	SAEC	small airway:	n/a
19	chr1:144930964-144931014	Caco-2	colon:	n/a
20	chr1:144931476-144931526	SK-N-MC	brain:	n/a
21	chr1:144932136-144932186	SAEC	small airway:	n/a
22	chr1:144815915-144815965	GM19239	blood:	n/a
23	chr1:144928806-144928856	H1-hESC	embryonic stem cell:	embryo
24	chr1:144937317-144937367	GM12878	blood:	n/a
25	chr1:144931476-144931526	AoSMC	blood vessel:	n/a
26	chr1:144931379-144931429	Hepatocyte	liver:	n/a
27	chr1:144932207-144932257	K562	blood:	n/a
28	chr1:144931966-144932016	NHDF-neo	bronchial:	n/a
29	chr1:144887235-144887285	HRE	kidney:	n/a
30	chr1:144932311-144932361	SAEC	small airway:	n/a
31	chr1:144931975-144932025	IMR90	lung:	fetal
32	chr1:144859929-144859979	RPTEC	kidney:	n/a
33	chr1:144815302-144815352	NB4	blood:	n/a
34	chr1:144931379-144931429	HRCEpiC	kidney:	n/a
35	chr1:144932227-144932277	Caco-2	colon:	n/a
36	chr1:144892566-144892616	K562	blood:	n/a
37	chr1:144932473-144932523	NB4	blood:	n/a
38	chr1:144913803-144913853	ECC-1	luminal epithelium:	n/a
39	chr1:144811373-144811423	GM12891	blood:	n/a
40	chr1:144931862-144931912	MCF10A-Er-Src	breast:	n/a
41	chr1:144815302-144815352	U87	brain:	n/a
42	chr1:144852047-144852097	GM12891	blood:	n/a
43	chr1:144892111-144892161	HRCEpiC	kidney:	n/a
44	chr1:144931966-144932016	MCF10A-Er-Src	breast:	n/a
45	chr1:144892566-144892616	HCM	heart:	n/a
46	chr1:144913803-144913853	AG09309	skin:	n/a
47	chr1:144935409-144935459	A549	lung:	n/a
48	chr1:144930964-144931014	A549	lung:	n/a
49	chr1:144931975-144932025	HCM	heart:	n/a
50	chr1:144932473-144932523	HAEpiC	amniotic membrane:	n/a

(count:165 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:144913341..144914857-chr1:144914948..144916749,2	K562	blood:
2	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
3	chr1:144914245..144917269-chr1:144938650..144941626,3	K562	blood:
4	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
5	chr1:144920944..144925051-chr1:144925584..144929146,5	K562	blood:
6	chr1:144859042..144861669-chr1:144863845..144865437,2	MCF-7	breast:
7	chr1:144866177..144868496-chr1:144870721..144873668,3	K562	blood:
8	chr1:144932557..144935247-chr1:145038247..145041311,3	MCF-7	breast:
9	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
10	chr1:144929958..144931521-chr17:48748229..48750387,2	MCF-7	breast:
11	chr1:144917532..144918295-chr20:53090253..53091159,2	MCF-7	breast:
12	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
13	chr1:144874282..144876288-chr1:144878980..144880964,2	K562	blood:
14	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
15	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
16	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
17	chr1:144931123..144933767-chr1:145038053..145040746,4	MCF-7	breast:
18	chr1:144932519..144933068-chr1:144989004..144989890,2	MCF-7	breast:
19	chr1:144930877..144933652-chr1:144988569..144991245,4	MCF-7	breast:
20	chr1:144921855..144924116-chr1:144941489..144944232,2	K562	blood:
21	chr1:144926702..144928514-chr1:144928774..144930808,3	K562	blood:
22	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
23	chr1:144929981..144935077-chr1:145095230..145100493,10	MCF-7	breast:
24	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
25	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
26	chr1:144912685..144914252-chr1:144947438..144950034,2	K562	blood:
27	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
28	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
29	chr1:144878185..144879777-chr1:144881889..144884530,2	MCF-7	breast:
30	chr1:144925057..144927728-chr1:145381929..145384283,2	MCF-7	breast:
31	chr1:144923562..144926497-chr1:145006728..145009314,2	MCF-7	breast:
32	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
33	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
34	chr1:144908995..144910553-chr1:144913596..144915672,2	K562	blood:
35	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
36	chr1:144932022..144932702-chr7:1569907..1570774,2	Hela-S3	cervix:
37	chr1:144935150..144939379-chr1:144940271..144942978,9	K562	blood:
38	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
39	chr1:144911399..144913167-chr1:144914593..144916227,2	MCF-7	breast:
40	chr1:144922144..144925989-chr1:144935346..144938648,3	K562	blood:
41	chr1:144923461..144926279-chr1:144929594..144932453,4	K562	blood:
42	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
43	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
44	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
45	chr1:144984721..144986263-chr1:144986371..144987987,2	MCF-7	breast:
46	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
47	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
48	chr1:144861786..144864624-chr1:144881141..144883484,2	MCF-7	breast:
49	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
50	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:

(count:73 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102404
2	lnc-PPIAL4B-8	chr1:144841842-144841896	NONHSAT005850
3	lnc-AL592284.1-1	chr1:144828541-144830407	NR_102404
4	lnc-PPIAL4B-8	chr1:144869790-144869871	NONHSAT005850
5	lnc-AL592284.1-1	chr1:144828973-144830389	NONHSAT005839
6	lnc-AL592284.1-1	chr1:144826933-144827105	NR_102405
7	lnc-PDE4DIP-2	chr1:144836655-144836804	NONHSAT005846
8	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102405
9	lnc-AL592284.1-1	chr1:144816316-144816795	NONHSAT005838
10	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102404
11	lnc-PDE4DIP-2	chr1:144837129-144837423	NONHSAT005844
12	lnc-AL592284.1-1	chr1:144827820-144827928	NR_102404
13	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102404
14	lnc-PPIAL4B-6	chr1:144859759-144860234	NONHSAT005854
15	lnc-NBPF9-2	chr1:144877872-144878163	ENSG00000254913.1
16	lnc-PDE4DIP-2	chr1:144854165-144854450	NONHSAT005851
17	lnc-AL592284.1-1	chr1:144815936-144816049	NONHSAT005837
18	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102405
19	lnc-AL592284.1-1	chr1:144815936-144816008	NONHSAT005838
20	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102405
21	lnc-AL592284.1-1	chr1:144828541-144830407	NR_102405
22	lnc-PPIAL4B-8	chr1:144868297-144868424	NONHSAT005850
23	lnc-PPIAL4B-8	chr1:144847426-144847494	NONHSAT005850
24	lnc-NBPF9-2	chr1:144877226-144877296	ENSG00000254913.1
25	lnc-AL592284.1-1	chr1:144816473-144816678	NR_102404
26	lnc-PDE4DIP-2	chr1:144852394-144852925	NONHSAT005849
27	lnc-PPIAL4B-8	chr1:144848404-144848435	NONHSAT005850
28	lnc-PDE4DIP-2	chr1:144852299-144852499	NONHSAT005852
29	lnc-AL592284.1-1	chr1:144814680-144814894	NR_102405
30	lnc-POLR3GL-8	chr1:144941080-144941374	NONHSAT005865
31	lnc-PDE4DIP-2	chr1:144851946-144852499	NONHSAT005851
32	lnc-NBPF9-1	chr1:144865739-144865740	ENSG00000255148.1
33	lnc-PPIAL4B-8	chr1:144870338-144870459	NONHSAT005850
34	lnc-NBPF9-1	chr1:144858639-144858781	ENSG00000255148.1
35	lnc-PDE4DIP-4	chr1:144832200-144833038	NONHSAT005840
36	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102404
37	lnc-PDE4DIP-3	chr1:144833913-144834808	NONHSAT005843
38	lnc-PDE4DIP-1	chr1:144835453-144835867	ENSG00000254539.1
39	lnc-POLR3GL-8	chr1:144941764-144941802	NONHSAT005865
40	lnc-AL592284.1-1	chr1:144814560-144814894	NONHSAT005837
41	lnc-AL592284.1-1	chr1:144814683-144814894	NONHSAT005838
42	lnc-POLR3GL-8	chr1:144940612-144940760	NONHSAT005866
43	lnc-NBPF9-1	chr1:144858211-144858781	ENSG00000255148.1
44	lnc-AL592284.1-1	chr1:144823128-144823179	NR_102404
45	lnc-PPIAL4B-8	chr1:144837900-144838083	NONHSAT005850
46	lnc-PPIAL4B-6	chr1:144857640-144857728	NONHSAT005854
47	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102404
48	lnc-PDE4DIP-2	chr1:144836157-144836558	NONHSAT005844
49	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102404
50	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102405

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDE4DIP	hsa-let-7a-5p	chr1:144851770-144851794

Variant related genes	Relation type
PDE4DIP	TF binding region
ENSG00000268172	TF binding region
ENSG00000266739	TF binding region
NBPF9	TF binding region
ENSG00000255148	TF binding region
ENSG00000254913	TF binding region
ENSG00000254539	TF binding region
RNU2-38P	TF binding region
PDE4DIP	CpG island
ENSG00000268172	CpG island
ENSG00000266739	CpG island
NBPF9	CpG island
ENSG00000255148	CpG island
ENSG00000254913	CpG island
ENSG00000254539	CpG island
RNU2-38P	CpG island
ENSG00000269900	chromatin interactions
ENSG00000198517	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000266739	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000222788	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000241721	chromatin interactions

Extended variants
information (count: 8277 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:8277 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201412277	chr1:144709986-144709987	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs199627678	chr1:144710088-144710089	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587723299	chr1:144710144-144710145	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587756229	chr1:144710195-144710196	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111214339	chr1:144810813-144810814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183034129	chr1:144810820-144810821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587606477	chr1:144810836-144810837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145836117	chr1:144810837-144810838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587714970	chr1:144810853-144810854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587608440	chr1:144810856-144810857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76109557	chr1:144810858-144810859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587668449	chr1:144810860-144810861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369367192	chr1:144810869-144810870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187327006	chr1:144810897-144810898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587742466	chr1:144810903-144810904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587619301	chr1:144810911-144810912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587698904	chr1:144810917-144810918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200537943	chr1:144810931-144810932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112419020	chr1:144810964-144810965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587754434	chr1:144810969-144810970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376007520	chr1:144811005-144811006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587651840	chr1:144811011-144811012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372825210	chr1:144811041-144811042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587753430	chr1:144811092-144811093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200217726	chr1:144811100-144811101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587657571	chr1:144811103-144811104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587743228	chr1:144811104-144811105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144509827	chr1:144811107-144811108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587611521	chr1:144811110-144811111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587694588	chr1:144811127-144811128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587753721	chr1:144811133-144811134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143499260	chr1:144811149-144811150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192273489	chr1:144811157-144811158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369527358	chr1:144811160-144811161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373144911	chr1:144811164-144811165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376355637	chr1:144811172-144811173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199929289	chr1:144811176-144811177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs587763721	chr1:144811184-144811185	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184613277	chr1:144811189-144811190	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs587709621	chr1:144811190-144811191	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs113279483	chr1:144811193-144811194	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111537918	chr1:144811196-144811197	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200137641	chr1:144811270-144811271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587638976	chr1:144811287-144811288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28552671	chr1:144811293-144811294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71231750	chr1:144811325-144811326	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373944149	chr1:144811365-144811366	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587697147	chr1:144811373-144811374	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs370916806	chr1:144811375-144811376	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs587731648	chr1:144811377-144811378	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:170)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD

Chromatin state (count:5629 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144708600-144710000	Enhancers	HMEC	breast
2	chr1:144708800-144710000	Enhancers	K562	blood
3	chr1:144709000-144710000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:144709200-144710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:144709200-144710000	Enhancers	Brain Angular Gyrus	brain
6	chr1:144709200-144710000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:144709200-144710000	Enhancers	Brain Substantia Nigra	brain
8	chr1:144709200-144710000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:144709200-144710000	Enhancers	Right Ventricle	heart
10	chr1:144709200-144710000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr1:144709200-144710000	Enhancers	HSMM	muscle
12	chr1:144709400-144710000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:144709400-144710000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:144709400-144710000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:144709800-144710000	Enhancers	Fetal Heart	heart
16	chr1:144709800-144710000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:144710000-144710200	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:144710000-144710200	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:144809400-144811200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:144809400-144814600	Weak transcription	Fetal Stomach	stomach
21	chr1:144809400-144839800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:144809600-144811800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:144809600-144840400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:144809800-144812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:144809800-144812800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:144809800-144813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:144809800-144813600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:144809800-144814200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:144809800-144814200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:144809800-144814200	Weak transcription	Liver	Liver
31	chr1:144809800-144814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:144809800-144814800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:144809800-144815000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:144809800-144825400	Weak transcription	Lung	lung
35	chr1:144809800-144826000	Weak transcription	Left Ventricle	heart
36	chr1:144809800-144836200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:144809800-144840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:144809800-144840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:144809800-144840400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:144809800-144840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:144809800-144840400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:144809800-144840800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:144809800-144840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:144809800-144840800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:144809800-144841000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:144810000-144840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:144810000-144843200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:144810200-144826200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:144811000-144811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:144811000-144811400	Enhancers	Fetal Muscle Trunk	muscle

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