Variant report

Variant	nsv870483
Chromosome Location	chr1:10694125-10750432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:899)
CpG islands
(count:5989)
Chromatin interactive
region (count:87)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:10739738-10739938	K562	blood:	n/a	n/a
2	ARID3A	chr1:10739699-10740090	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:10746020-10747010	HepG2	liver:	n/a	n/a
4	ATF1	chr1:10706410-10706754	K562	blood:	n/a	n/a
5	ATF2	chr1:10739666-10740097	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:10739634-10740012	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:10706374-10706728	K562	blood:	n/a	n/a
8	ATF3	chr1:10706380-10706785	K562	blood:	n/a	n/a
9	ATF3	chr1:10711894-10712078	K562	blood:	n/a	n/a
10	BACH1	chr1:10709033-10709307	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:10710049-10710152	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:10699434-10699676	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr1:10722400-10722952	GM12878	blood:	n/a	n/a
14	BCL3	chr1:10711172-10711384	GM12878	blood:	n/a	n/a
15	BCL3	chr1:10711104-10711370	GM12878	blood:	n/a	n/a
16	BCL3	chr1:10722391-10722933	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:10704722-10704778	K562	blood:	n/a	n/a
18	BHLHE40	chr1:10739818-10739897	K562	blood:	n/a	n/a
19	BHLHE40	chr1:10706431-10706689	K562	blood:	n/a	n/a
20	BHLHE40	chr1:10722323-10722716	K562	blood:	n/a	n/a
21	BHLHE40	chr1:10701393-10701600	HepG2	liver:	n/a	n/a
22	BHLHE40	chr1:10745723-10746597	HepG2	liver:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
23	BHLHE40	chr1:10745752-10746071	K562	blood:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
24	BRCA1	chr1:10737875-10737890	HepG2	liver:	n/a	n/a
25	CBX3	chr1:10739625-10740024	K562	blood:	n/a	n/a
26	CBX3	chr1:10706366-10706742	K562	blood:	n/a	n/a
27	CEBPB	chr1:10706494-10706643	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:10706493-10706670	K562	blood:	n/a	n/a
29	CEBPB	chr1:10746636-10747091	HepG2	liver:	n/a	chr1:10746910-10746923
30	CEBPB	chr1:10711206-10711315	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:10706429-10706778	K562	blood:	n/a	n/a
32	CEBPB	chr1:10706418-10706752	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:10704649-10704938	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:10706393-10706782	K562	blood:	n/a	n/a
35	CEBPB	chr1:10739707-10739926	K562	blood:	n/a	n/a
36	CEBPB	chr1:10739750-10739932	K562	blood:	n/a	n/a
37	CEBPB	chr1:10694733-10694869	Hela-S3	cervix:	n/a	chr1:10694745-10694758
38	CEBPB	chr1:10706430-10706778	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:10739719-10739976	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:10695688-10695932	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:10695625-10695985	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:10706457-10706718	A549	lung:	n/a	n/a
43	CEBPB	chr1:10737782-10737942	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr1:10695597-10696010	Hela-S3	cervix:	n/a	n/a
45	CEBPD	chr1:10745991-10746333	HepG2	liver:	n/a	n/a
46	CHD1	chr1:10699506-10699568	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr1:10704633-10704864	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr1:10746764-10746893	K562	blood:	n/a	n/a
49	CHD2	chr1:10746469-10747098	HepG2	liver:	n/a	n/a
50	CHD2	chr1:10744588-10744881	K562	blood:	n/a	n/a

(count:5989 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10719929-10719979	RPTEC	kidney:	n/a
2	chr1:10711695-10711745	ProgFib	skin:	n/a
3	chr1:10704953-10705003	Hela-S3	cervix:	n/a
4	chr1:10698719-10698769	SK-N-SH	brain:	n/a
5	chr1:10697703-10697753	HCPEpiC	choroid plexus:	n/a
6	chr1:10698794-10698844	HIPEpiC	eye:	n/a
7	chr1:10720993-10721043	SK-N-SH_RA	brain:	n/a
8	chr1:10696066-10696116	Caco-2	colon:	n/a
9	chr1:10731250-10731300	AG10803	skin:	n/a
10	chr1:10738569-10738619	Hela-S3	cervix:	n/a
11	chr1:10711695-10711745	MCF10A-Er-Src	breast:	n/a
12	chr1:10719929-10719979	RPTEC	kidney:	n/a
13	chr1:10711695-10711745	ProgFib	skin:	n/a
14	chr1:10704953-10705003	Hela-S3	cervix:	n/a
15	chr1:10698719-10698769	SK-N-SH	brain:	n/a
16	chr1:10697703-10697753	HCPEpiC	choroid plexus:	n/a
17	chr1:10698794-10698844	HIPEpiC	eye:	n/a
18	chr1:10720993-10721043	SK-N-SH_RA	brain:	n/a
19	chr1:10696066-10696116	Caco-2	colon:	n/a
20	chr1:10731250-10731300	AG10803	skin:	n/a
21	chr1:10738569-10738619	Hela-S3	cervix:	n/a
22	chr1:10711695-10711745	MCF10A-Er-Src	breast:	n/a
23	chr1:10730684-10730734	RPTEC	kidney:	n/a
24	chr1:10732744-10732794	H1-hESC	embryonic stem cell:	embryo
25	chr1:10745727-10745777	HEK293	kidney:	embryo
26	chr1:10698719-10698769	MCF-7	breast:	n/a
27	chr1:10726728-10726778	NB4	blood:	n/a
28	chr1:10733511-10733561	PANC-1	pancreas:	n/a
29	chr1:10733511-10733561	T-47D	breast:	n/a
30	chr1:10725571-10725621	AoSMC	blood vessel:	n/a
31	chr1:10730684-10730734	GM19239	blood:	n/a
32	chr1:10709885-10709935	AG10803	skin:	n/a
33	chr1:10715885-10715935	GM12891	blood:	n/a
34	chr1:10706484-10706534	NT2-D1	testis:	n/a
35	chr1:10700647-10700697	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:10734693-10734743	HMEC	breast:	n/a
37	chr1:10732464-10732514	AG10803	skin:	n/a
38	chr1:10715885-10715935	MCF10A-Er-Src	breast:	n/a
39	chr1:10732519-10732569	HL-60	blood:	n/a
40	chr1:10714701-10714751	NHBE	bronchial:	n/a
41	chr1:10696066-10696116	HRE	kidney:	n/a
42	chr1:10720269-10720319	AG04450	lung:	fetal
43	chr1:10720716-10720766	BE2_C	brain:	n/a
44	chr1:10731250-10731300	ProgFib	skin:	n/a
45	chr1:10710847-10710897	PrEC	prostate:	n/a
46	chr1:10739184-10739234	HNPCEpiC	eye:	n/a
47	chr1:10725218-10725268	GM12878	blood:	n/a
48	chr1:10725571-10725621	NB4	blood:	n/a
49	chr1:10709185-10709235	GM12892	blood:	n/a
50	chr1:10732063-10732113	HNPCEpiC	eye:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
2	chr1:10707592..10708112-chr17:41465690..41466290,3	NB4	blood:
3	chr1:10711257..10713486-chr1:10721428..10724018,2	MCF-7	breast:
4	chr1:10731829..10734631-chr1:10737455..10739630,2	K562	blood:
5	chr1:10742297..10745036-chr1:10749705..10751341,3	MCF-7	breast:
6	chr1:10728805..10730887-chr1:10732213..10735865,3	MCF-7	breast:
7	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
8	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
9	chr1:10732310..10734082-chr1:10748973..10751556,2	K562	blood:
10	chr1:10742297..10745036-chr1:10749705..10751341,3	MCF-7	breast:
11	chr1:10573337..10575488-chr1:10723481..10725688,2	K562	blood:
12	chr1:10749491..10752032-chr1:10752294..10754052,2	K562	blood:
13	chr1:10746278..10748730-chr1:10764916..10766801,2	K562	blood:
14	chr1:10712004..10714801-chr1:10852157..10855382,3	MCF-7	breast:
15	chr1:10739997..10741906-chr1:10786836..10789661,2	MCF-7	breast:
16	chr1:10694311..10696932-chr1:10702215..10704200,2	K562	blood:
17	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
18	chr1:10744408..10746422-chr1:10754548..10756295,2	MCF-7	breast:
19	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:
20	chr1:10750259..10753196-chr1:10853460..10855878,3	MCF-7	breast:
21	chr1:10694311..10696932-chr1:10702215..10704200,2	K562	blood:
22	chr1:10731829..10734631-chr1:10737455..10739630,2	K562	blood:
23	chr1:10698341..10701476-chr1:10701646..10704585,3	MCF-7	breast:
24	chr1:10722706..10724721-chr1:10733970..10736738,2	MCF-7	breast:
25	chr1:10709667..10713053-chr1:10713684..10716975,4	K562	blood:
26	chr1:10746225..10747873-chr1:10749821..10751374,2	K562	blood:
27	chr1:10735100..10736602-chr1:10738947..10741483,2	MCF-7	breast:
28	chr1:10738414..10740371-chr1:10749837..10752208,2	MCF-7	breast:
29	chr1:10708501..10711105-chr1:10716325..10718436,2	K562	blood:
30	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
31	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
32	chr1:10733635..10735480-chr1:10745613..10747198,2	K562	blood:
33	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
34	chr1:10574993..10577268-chr1:10694934..10697136,2	MCF-7	breast:
35	chr1:10739929..10741898-chr1:10854079..10856532,2	MCF-7	breast:
36	chr1:10733635..10735480-chr1:10745613..10747198,2	K562	blood:
37	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
38	chr1:10723769..10726210-chr1:10728292..10729827,2	MCF-7	breast:
39	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
40	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
41	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
42	chr1:10703132..10705545-chr1:10711056..10713011,2	K562	blood:
43	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
44	chr1:10736438..10738952-chr1:10740834..10743683,3	K562	blood:
45	chr1:10725435..10726303-chr1:10810964..10811494,2	MCF-7	breast:
46	chr1:10738789..10740392-chr1:10741913..10744233,2	MCF-7	breast:
47	chr1:10722706..10724721-chr1:10733970..10736738,2	MCF-7	breast:
48	chr1:10736438..10738952-chr1:10740834..10743683,3	K562	blood:
49	chr1:10715834..10717814-chr1:10789112..10791954,2	K562	blood:
50	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DFFA-6	chr1:10710998-10711157	NONHSAT000867
2	lnc-DFFA-4	chr1:10698772-10698820	NONHSAT000866
3	lnc-DFFA-4	chr1:10697178-10697465	NONHSAT000866
4	lnc-PEX14-4	chr1:10703938-10704151	uc_5_+
5	lnc-DFFA-5	chr1:10703938-10704151	uc_5_-
6	lnc-DFFA-7	chr1:10717708-10718008	uc_6_-
7	lnc-PEX14-6	chr1:10717708-10718008	uc_6_+
8	lnc-DFFA-6	chr1:10710541-10710812	NONHSAT000867

No data

Variant related genes	Relation type
ENSG00000272078	TF binding region
CASZ1	TF binding region
ENSG00000272078	CpG island
CASZ1	CpG island
ENSG00000188825	chromatin interactions
ENSG00000272078	chromatin interactions
ENSG00000130940	chromatin interactions

Extended variants
information (count: 2645 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2645 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs284301	chr1:10694125-10694126	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550755497	chr1:10694157-10694158	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs567877125	chr1:10694158-10694159	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs184484516	chr1:10694172-10694173	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373849120	chr1:10694174-10694175	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs550792640	chr1:10694193-10694194	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs377532326	chr1:10694203-10694204	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs551887510	chr1:10694234-10694235	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs78716194	chr1:10694274-10694275	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs372584029	chr1:10694275-10694276	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs534041364	chr1:10694331-10694332	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs187585191	chr1:10694340-10694341	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs549252643	chr1:10694370-10694371	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567575925	chr1:10694371-10694372	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs193287688	chr1:10694396-10694397	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556173687	chr1:10694427-10694428	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs61776289	chr1:10694448-10694449	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139076833	chr1:10694452-10694453	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189222280	chr1:10694482-10694483	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376879427	chr1:10694511-10694512	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558983486	chr1:10694530-10694531	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145868884	chr1:10694542-10694543	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562008235	chr1:10694610-10694611	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574013907	chr1:10694623-10694624	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544534854	chr1:10694630-10694631	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562727766	chr1:10694648-10694649	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533405903	chr1:10694740-10694741	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562132656	chr1:10694835-10694836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181593383	chr1:10694856-10694857	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs184205470	chr1:10694874-10694875	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs61776290	chr1:10694907-10694908	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	disease
32	rs549215558	chr1:10694933-10694934	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547775712	chr1:10694946-10694947	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567496608	chr1:10694963-10694964	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374474744	chr1:10694971-10694972	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550088755	chr1:10694993-10694994	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560054926	chr1:10695034-10695035	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376249336	chr1:10695083-10695084	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs147092807	chr1:10695122-10695123	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532992811	chr1:10695204-10695205	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538629240	chr1:10695315-10695316	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs61776291	chr1:10695323-10695324	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536529830	chr1:10695342-10695343	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370693355	chr1:10695346-10695347	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs147581759	chr1:10695356-10695357	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs551375394	chr1:10695464-10695465	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189866149	chr1:10695466-10695467	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569814885	chr1:10695568-10695569	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs181276068	chr1:10695603-10695604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142038432	chr1:10695608-10695609	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10662200-10694400	Weak transcription	HSMM	muscle
6	chr1:10662400-10694400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:10664400-10698000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:10672600-10694800	Strong transcription	Fetal Intestine Small	intestine
9	chr1:10680400-10694400	Weak transcription	HSMMtube	muscle
10	chr1:10681200-10697600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:10682200-10694600	Strong transcription	Fetal Intestine Large	intestine
12	chr1:10684600-10694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:10685000-10695200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:10685200-10695200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:10685200-10699400	Weak transcription	Aorta	Aorta
16	chr1:10685800-10694200	Weak transcription	Osteobl	bone
17	chr1:10686200-10698000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:10686600-10694600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:10686800-10694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:10686800-10695200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:10687600-10698000	Weak transcription	Small Intestine	intestine
22	chr1:10688000-10694800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:10689200-10694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:10689200-10694600	Weak transcription	Right Atrium	heart
25	chr1:10689400-10694400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:10689400-10695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:10689600-10694600	Weak transcription	Fetal Heart	heart
28	chr1:10689600-10694600	Weak transcription	Left Ventricle	heart
29	chr1:10689800-10694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:10690000-10694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:10690200-10694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:10690200-10694800	Weak transcription	Colonic Mucosa	Colon
33	chr1:10690200-10696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:10690400-10694200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:10690600-10695400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10691000-10696200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:10691000-10697400	Weak transcription	Gastric	stomach
38	chr1:10691200-10695600	Weak transcription	Fetal Thymus	thymus
39	chr1:10691400-10694400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:10691400-10695600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:10691400-10695800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:10691400-10697400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:10691400-10698000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:10691600-10694800	Weak transcription	Right Ventricle	heart
45	chr1:10691600-10695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:10691600-10695800	Enhancers	Ovary	ovary
47	chr1:10691600-10696200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:10691600-10697200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:10691600-10697400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:10691600-10697600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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