Variant report

Variant	esv3495916
Chromosome Location	chr6:45388574-45392472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:589)
CpG islands
(count:1040)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:45389412-45389753	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:45390680-45391324	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:45391955-45392467	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr6:45389445-45389960	K562	blood:	n/a	n/a
5	BHLHE40	chr6:45388556-45388623	K562	blood:	n/a	n/a
6	BRCA1	chr6:45389902-45390102	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr6:45391179-45391356	K562	blood:	n/a	n/a
8	CCNT2	chr6:45389391-45390801	K562	blood:	n/a	n/a
9	CEBPB	chr6:45390342-45390508	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:45389403-45390492	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:45390026-45390543	IMR90	lung:	n/a	n/a
12	CHD1	chr6:45391064-45391306	H1-hESC	embryonic stem cell:	n/a	chr6:45391066-45391076
13	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
14	CHD2	chr6:45391776-45391976	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr6:45390938-45390992	GM12878	blood:	n/a	n/a
16	CHD2	chr6:45389267-45390419	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr6:45389537-45389565	GM12878	blood:	n/a	n/a
18	CHD2	chr6:45390668-45391092	H1-hESC	embryonic stem cell:	n/a	chr6:45391066-45391076
19	CTBP2	chr6:45389219-45389758	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr6:45390579-45392136	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:45389860-45390010	HMEC	breast:	n/a	n/a
22	CTCF	chr6:45389436-45389601	GM10248	blood:	n/a	n/a
23	CTCF	chr6:45389840-45389990	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr6:45389420-45389570	HMEC	breast:	n/a	n/a
25	CTCF	chr6:45389923-45389933	Lung_OC	lung:	n/a	n/a
26	CTCF	chr6:45389473-45389566	Lung_OC	lung:	n/a	n/a
27	CTCF	chr6:45390640-45390790	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr6:45389420-45389570	HVMF	connective:	n/a	n/a
29	CTCF	chr6:45390630-45390655	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:45391820-45391970	HCM	heart:	n/a	n/a
31	CTCF	chr6:45389500-45389650	AG04450	lung:	n/a	n/a
32	CTCF	chr6:45389400-45389550	HFF	foreskin:	n/a	n/a
33	CTCF	chr6:45390593-45390704	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:45389360-45389510	K562	blood:	n/a	n/a
35	CTCF	chr6:45389400-45389550	AG09309	skin:	n/a	n/a
36	CTCF	chr6:45389386-45389628	ProgFib	skin:	n/a	n/a
37	CTCF	chr6:45389400-45389550	HMEC	breast:	n/a	n/a
38	CTCF	chr6:45389860-45390010	GM12865	blood:	n/a	n/a
39	CTCF	chr6:45390068-45390070	Fibrobl	skin:	n/a	n/a
40	CTCF	chr6:45389900-45390050	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr6:45389467-45389537	GM13977	blood:	n/a	n/a
42	CTCF	chr6:45389880-45390030	HepG2	liver:	n/a	n/a
43	CTCF	chr6:45389400-45389550	HPF	lung:	n/a	n/a
44	CTCF	chr6:45389400-45389550	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr6:45389381-45389659	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:45389298-45390180	K562	blood:	n/a	n/a
47	CTCF	chr6:45389980-45390130	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr6:45389461-45389526	GM19239	blood:	n/a	n/a
49	CTCF	chr6:45389880-45390030	AG09319	gingival:	n/a	n/a
50	CTCF	chr6:45389420-45389570	HAc	cerebellar:	n/a	n/a

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:45389953-45390003	AG04450	lung:	fetal
2	chr6:45388583-45388633	GM12892	blood:	n/a
3	chr6:45391645-45391695	GM19239	blood:	n/a
4	chr6:45389953-45390003	AG04450	lung:	fetal
5	chr6:45388583-45388633	GM12892	blood:	n/a
6	chr6:45391645-45391695	GM19239	blood:	n/a
7	chr6:45389313-45389363	HAEpiC	amniotic membrane:	n/a
8	chr6:45389740-45389790	SK-N-SH_RA	brain:	n/a
9	chr6:45389860-45389910	AG09309	skin:	n/a
10	chr6:45389862-45389912	HRE	kidney:	n/a
11	chr6:45391088-45391138	HEK293	kidney:	embryo
12	chr6:45389860-45389910	HMEC	breast:	n/a
13	chr6:45390783-45390833	PrEC	prostate:	n/a
14	chr6:45391852-45391902	GM06990	blood:	n/a
15	chr6:45391365-45391415	T-47D	breast:	n/a
16	chr6:45390783-45390833	GM12878	blood:	n/a
17	chr6:45391916-45391966	MCF-7	breast:	n/a
18	chr6:45389860-45389910	SK-N-SH	brain:	n/a
19	chr6:45389862-45389912	AG09319	gingival:	n/a
20	chr6:45391973-45392023	GM12891	blood:	n/a
21	chr6:45391973-45392023	AoSMC	blood vessel:	n/a
22	chr6:45389313-45389363	HCF	heart:	n/a
23	chr6:45389535-45389585	GM12892	blood:	n/a
24	chr6:45389862-45389912	HRCEpiC	kidney:	n/a
25	chr6:45391973-45392023	GM06990	blood:	n/a
26	chr6:45389953-45390003	MCF10A-Er-Src	breast:	n/a
27	chr6:45389871-45389921	ProgFib	skin:	n/a
28	chr6:45391365-45391415	H1-hESC	embryonic stem cell:	embryo
29	chr6:45389535-45389585	SK-N-MC	brain:	n/a
30	chr6:45389877-45389927	LNCaP	prostate:	n/a
31	chr6:45388583-45388633	HCT-116	colon:	n/a
32	chr6:45389871-45389921	AG04449	skin:	fetal
33	chr6:45391645-45391695	HRPEpiC	eye:	n/a
34	chr6:45389953-45390003	GM12892	blood:	n/a
35	chr6:45391088-45391138	SAEC	small airway:	n/a
36	chr6:45391645-45391695	HepG2	liver:	n/a
37	chr6:45391645-45391695	BJ	skin:	n/a
38	chr6:45389740-45389790	NB4	blood:	n/a
39	chr6:45391852-45391902	RPTEC	kidney:	n/a
40	chr6:45389313-45389363	HL-60	blood:	n/a
41	chr6:45391852-45391902	Jurkat	blood:	n/a
42	chr6:45391916-45391966	PANC-1	pancreas:	n/a
43	chr6:45389862-45389912	SAEC	small airway:	n/a
44	chr6:45389740-45389790	Jurkat	blood:	n/a
45	chr6:45391088-45391138	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:45391365-45391415	NHDF-neo	bronchial:	n/a
47	chr6:45389740-45389790	T-47D	breast:	n/a
48	chr6:45391365-45391415	NH-A	brain:	n/a
49	chr6:45390099-45390149	GM06990	blood:	n/a
50	chr6:45391973-45392023	HRCEpiC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45391736..45393950-chr6:45394810..45397600,3	K562	blood:
2	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:
3	chr6:45390553..45391208-chr6:45683235..45684062,2	MCF-7	breast:
4	chr6:44626505..44628712-chr6:45390567..45392142,2	MCF-7	breast:
5	chr6:45388588..45389630-chr6:45682064..45682718,3	MCF-7	breast:
6	chr6:45346603..45348483-chr6:45391933..45394862,2	K562	blood:
7	chr6:45391466..45393363-chr6:45413859..45416202,2	MCF-7	breast:
8	chr6:45387795..45389727-chr6:45621998..45623537,2	MCF-7	breast:
9	chr6:44700126..44702193-chr6:45390797..45392676,2	MCF-7	breast:
10	chr6:45392117..45393805-chr6:45402414..45404150,2	MCF-7	breast:
11	chr6:45343194..45347445-chr6:45386856..45389425,4	MCF-7	breast:
12	chr6:45369759..45372221-chr6:45390852..45393677,2	K562	blood:
13	chr6:45391180..45393282-chr6:45393319..45396759,3	K562	blood:
14	chr6:44621438..44623552-chr6:45385736..45388859,3	MCF-7	breast:
15	chr20:44539318..44540315-chr6:45392001..45392646,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT3H-2	chr6:45388816-45389742	ENSG00000271857.1

No data

Variant related genes	Relation type
ENSG00000271857	TF binding region
RUNX2	TF binding region
ENSG00000271857	CpG island
RUNX2	CpG island
ENSG00000100979	chromatin interactions
ENSG00000196284	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543999814	chr6:45388615-45388616	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557371218	chr6:45388626-45388627	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575958051	chr6:45388628-45388629	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543457515	chr6:45388640-45388641	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564170727	chr6:45388750-45388751	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532125913	chr6:45388798-45388799	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7746992	chr6:45388822-45388823	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs529451903	chr6:45388853-45388854	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs541678267	chr6:45388892-45388893	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs373375251	chr6:45388902-45388903	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs143223327	chr6:45388915-45388916	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs533713978	chr6:45389051-45389052	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs190383891	chr6:45389132-45389133	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs199884733	chr6:45389142-45389143	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs372049131	chr6:45389143-45389144	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs569989800	chr6:45389163-45389164	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs530834446	chr6:45389191-45389192	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs138802833	chr6:45389204-45389205	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs142699450	chr6:45389225-45389226	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs7751427	chr6:45389234-45389235	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs7771980	chr6:45389289-45389290	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565628738	chr6:45389328-45389329	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs529581653	chr6:45389340-45389341	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs539307384	chr6:45389343-45389344	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs369680867	chr6:45389427-45389428	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs557632640	chr6:45389463-45389464	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs549224189	chr6:45389535-45389536	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs543063862	chr6:45389547-45389548	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs555424096	chr6:45389555-45389556	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs573679403	chr6:45389575-45389576	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs74865052	chr6:45389658-45389659	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs559948694	chr6:45389663-45389664	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs181056538	chr6:45389700-45389701	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs545691082	chr6:45389709-45389710	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs563844667	chr6:45389757-45389758	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs11498197	chr6:45389841-45389842	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs184262543	chr6:45389848-45389849	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs549138894	chr6:45389894-45389895	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs373579173	chr6:45389966-45389967	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
40	rs112832178	chr6:45390040-45390041	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs146028707	chr6:45390088-45390089	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs528604359	chr6:45390174-45390175	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs558677279	chr6:45390215-45390216	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs546698727	chr6:45390219-45390220	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs565491755	chr6:45390224-45390225	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs539269579	chr6:45390227-45390228	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557997453	chr6:45390233-45390234	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370165337	chr6:45390272-45390273	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569884387	chr6:45390285-45390286	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376284424	chr6:45390294-45390295	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:45387000-45388800	Flanking Active TSS	NH-A	brain
4	chr6:45387000-45389000	Flanking Active TSS	Osteobl	bone
5	chr6:45387000-45389400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr6:45387000-45389800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:45387200-45388600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:45387200-45388600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:45387200-45388600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
12	chr6:45387200-45388600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
13	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:45387200-45389000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr6:45387200-45389000	Flanking Active TSS	HMEC	breast
18	chr6:45387200-45389000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr6:45387200-45389200	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr6:45387200-45389400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:45387200-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr6:45387200-45390800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr6:45387400-45388600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:45387400-45388800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr6:45387400-45389000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:45387400-45389200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
29	chr6:45387400-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:45387400-45389600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:45387400-45391000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:45387600-45388600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr6:45387600-45388600	Flanking Active TSS	HSMM	muscle
34	chr6:45387600-45388800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr6:45387600-45388800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:45387600-45389000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:45387600-45389200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr6:45387600-45389200	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr6:45387600-45389200	Bivalent Enhancer	Placenta	Placenta
40	chr6:45387600-45389200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr6:45387600-45389600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr6:45387800-45388600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:45387800-45388600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr6:45387800-45388600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:45387800-45388600	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr6:45387800-45388800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:45387800-45388800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr6:45387800-45388800	Bivalent Enhancer	Fetal Heart	heart
49	chr6:45387800-45389000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
50	chr6:45387800-45389200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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