Variant report

Variant	nsv825028
Chromosome Location	chr9:110248596-110252543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:664)
CpG islands
(count:550)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:110250629-110251387	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr9:110249859-110250237	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:110251654-110251844	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:110252376-110252937	H1-hESC	embryonic stem cell:	n/a	chr9:110252535-110252549
5	BACH1	chr9:110249272-110249481	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr9:110252248-110252990	A549	lung:	n/a	n/a
7	BHLHE40	chr9:110252113-110252682	A549	lung:	n/a	n/a
8	BHLHE40	chr9:110252035-110252587	HepG2	liver:	n/a	n/a
9	BHLHE40	chr9:110252094-110252314	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:110252024-110252694	K562	blood:	n/a	n/a
11	BRCA1	chr9:110251164-110251266	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr9:110252336-110252723	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr9:110252237-110252693	K562	blood:	n/a	n/a
14	CCNT2	chr9:110250941-110251380	K562	blood:	n/a	n/a
15	CCNT2	chr9:110251672-110252685	K562	blood:	n/a	chr9:110252674-110252683 chr9:110251941-110251950 chr9:110252119-110252128
16	CCNT2	chr9:110250389-110250591	K562	blood:	n/a	n/a
17	CEBPB	chr9:110250694-110250928	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr9:110249888-110250024	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr9:110252387-110252527	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr9:110252013-110252727	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr9:110250629-110250970	IMR90	lung:	n/a	n/a
22	CEBPD	chr9:110252037-110252331	HepG2	liver:	n/a	n/a
23	CHD1	chr9:110251596-110251747	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr9:110249882-110250280	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr9:110248044-110253182	IMR90	lung:	n/a	chr9:110250929-110250939
26	CHD1	chr9:110252336-110252921	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr9:110252080-110252717	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr9:110252349-110252438	K562	blood:	n/a	n/a
29	CHD2	chr9:110249943-110250214	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr9:110252235-110252442	GM12878	blood:	n/a	n/a
31	CHD2	chr9:110250598-110252882	Hela-S3	cervix:	n/a	chr9:110250929-110250939
32	CREB1	chr9:110251972-110252700	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr9:110252101-110252404	A549	lung:	n/a	n/a
34	CREB1	chr9:110251962-110252722	A549	lung:	n/a	n/a
35	CREB1	chr9:110251989-110252515	HepG2	liver:	n/a	n/a
36	CREB1	chr9:110252012-110252522	K562	blood:	n/a	n/a
37	CREB1	chr9:110249791-110250198	A549	lung:	n/a	n/a
38	CREB1	chr9:110249650-110250434	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr9:110249649-110250360	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr9:110249506-110251759	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:110249780-110249930	RPTEC	kidney:	n/a	n/a
42	CTCF	chr9:110249940-110250090	HCFaa	heart:	n/a	n/a
43	CTCF	chr9:110249920-110250070	HPF	lung:	n/a	n/a
44	CTCF	chr9:110250880-110251030	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr9:110250000-110250150	HVMF	connective:	n/a	n/a
46	CTCF	chr9:110249900-110250050	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr9:110250544-110250608	Lung_OC	lung:	n/a	n/a
48	CTCF	chr9:110250880-110251030	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr9:110252520-110252670	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr9:110249861-110250185	MCF-7	breast:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:110249966-110250016	HEEpiC	esophagus:	n/a
2	chr9:110249966-110250016	HEEpiC	esophagus:	n/a
3	chr9:110252451-110252501	HCT-116	colon:	n/a
4	chr9:110251826-110251876	GM06990	blood:	n/a
5	chr9:110251706-110251756	Jurkat	blood:	n/a
6	chr9:110249749-110249799	A549	lung:	n/a
7	chr9:110252200-110252250	AG09319	gingival:	n/a
8	chr9:110251706-110251756	MCF-7	breast:	n/a
9	chr9:110251826-110251876	IMR90	lung:	fetal
10	chr9:110251826-110251876	HRE	kidney:	n/a
11	chr9:110251003-110251053	HRPEpiC	eye:	n/a
12	chr9:110249966-110250016	HRCEpiC	kidney:	n/a
13	chr9:110251706-110251756	HRCEpiC	kidney:	n/a
14	chr9:110250612-110250662	PrEC	prostate:	n/a
15	chr9:110252451-110252501	Hela-S3	cervix:	n/a
16	chr9:110252200-110252250	K562	blood:	n/a
17	chr9:110251003-110251053	PrEC	prostate:	n/a
18	chr9:110251706-110251756	NHBE	bronchial:	n/a
19	chr9:110249966-110250016	NH-A	brain:	n/a
20	chr9:110250612-110250662	K562	blood:	n/a
21	chr9:110252451-110252501	NB4	blood:	n/a
22	chr9:110251003-110251053	LNCaP	prostate:	n/a
23	chr9:110251095-110251145	T-47D	breast:	n/a
24	chr9:110252451-110252501	PANC-1	pancreas:	n/a
25	chr9:110251706-110251756	HAEpiC	amniotic membrane:	n/a
26	chr9:110251826-110251876	HRCEpiC	kidney:	n/a
27	chr9:110251095-110251145	AG04449	skin:	fetal
28	chr9:110251826-110251876	HMEC	breast:	n/a
29	chr9:110250612-110250662	BJ	skin:	n/a
30	chr9:110251003-110251053	NB4	blood:	n/a
31	chr9:110251095-110251145	BE2_C	brain:	n/a
32	chr9:110249966-110250016	HL-60	blood:	n/a
33	chr9:110252451-110252501	HEEpiC	esophagus:	n/a
34	chr9:110251706-110251756	SK-N-MC	brain:	n/a
35	chr9:110251003-110251053	HCPEpiC	choroid plexus:	n/a
36	chr9:110251095-110251145	Caco-2	colon:	n/a
37	chr9:110252200-110252250	HCF	heart:	n/a
38	chr9:110251003-110251053	HRCEpiC	kidney:	n/a
39	chr9:110251706-110251756	BE2_C	brain:	n/a
40	chr9:110249966-110250016	HCM	heart:	n/a
41	chr9:110249749-110249799	HEEpiC	esophagus:	n/a
42	chr9:110250612-110250662	HUVEC	blood vessel:	n/a
43	chr9:110249966-110250016	HRPEpiC	eye:	n/a
44	chr9:110249966-110250016	AoSMC	blood vessel:	n/a
45	chr9:110250612-110250662	HRCEpiC	kidney:	n/a
46	chr9:110252451-110252501	U87	brain:	n/a
47	chr9:110251706-110251756	Hepatocyte	liver:	n/a
48	chr9:110249749-110249799	HCT-116	colon:	n/a
49	chr9:110252451-110252501	HMEC	breast:	n/a
50	chr9:110251003-110251053	NT2-D1	testis:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:101224274..101226776-chr9:110251718..110253373,2	MCF-7	breast:
2	chr9:110242425..110245039-chr9:110248076..110250038,3	K562	blood:
3	chr9:110184199..110185540-chr9:110249535..110250385,9	MCF-7	breast:
4	chr9:109425556..109427280-chr9:110248781..110250709,2	MCF-7	breast:
5	chr9:110246511..110249498-chr9:111190126..111191677,2	MCF-7	breast:
6	chr9:110246539..110249058-chr9:111030937..111033862,2	MCF-7	breast:
7	chr9:110252119..110252741-chrX:46696278..46696799,2	Hela-S3	cervix:
8	chr9:110246319..110249443-chr9:111522237..111525040,3	MCF-7	breast:
9	chr9:110185127..110185629-chr9:110249513..110250083,2	MCF-7	breast:
10	chr9:110246498..110248989-chr9:110515168..110518438,3	MCF-7	breast:
11	chr9:110246987..110249540-chr9:110886248..110888523,2	MCF-7	breast:
12	chr9:110247496..110249786-chr9:111257923..111260578,2	MCF-7	breast:
13	chr8:145109045..145111550-chr9:110250492..110251997,2	MCF-7	breast:
14	chr10:112262123..112263013-chr9:110251795..110252610,2	Hela-S3	cervix:
15	chr9:110248029..110249543-chr9:110331066..110332921,2	MCF-7	breast:
16	chr1:245134195..245134821-chr9:110251595..110252553,2	Hela-S3	cervix:
17	chr9:110247289..110249056-chr9:110417408..110419727,2	MCF-7	breast:
18	chr9:110251912..110253723-chrX:47002554..47004950,2	MCF-7	breast:
19	chr1:45196404..45197114-chr9:110251973..110252765,2	NB4	blood:
20	chr9:110248605..110250352-chr9:110763897..110765598,2	MCF-7	breast:
21	chr9:110190788..110193642-chr9:110249721..110252458,4	MCF-7	breast:
22	chr9:110250543..110252751-chr9:110679811..110682392,3	MCF-7	breast:
23	chr9:110247513..110249830-chr9:110339098..110341617,2	MCF-7	breast:
24	chr9:110246769..110253919-chr9:110298442..110306182,20	MCF-7	breast:
25	chr9:110193925..110197671-chr9:110251200..110254442,3	MCF-7	breast:
26	chr1:156697971..156698489-chr9:110251707..110252389,2	HCT-116	colon:
27	chr9:110045521..110048079-chr9:110251760..110253947,2	MCF-7	breast:
28	chr16:89988575..89990110-chr9:110251839..110254629,2	MCF-7	breast:
29	chr9:110247156..110249811-chr9:110250115..110251860,2	K562	blood:
30	chr9:110248220..110250527-chr9:111302470..111304423,3	MCF-7	breast:
31	chr14:75745104..75745659-chr9:110252020..110252549,2	Hela-S3	cervix:
32	chr9:110248541..110250333-chr9:110285200..110286705,2	MCF-7	breast:
33	chr19:10764627..10765503-chr9:110250012..110250853,2	Hela-S3	cervix:
34	chr9:110247080..110249421-chr9:111323616..111326393,2	MCF-7	breast:
35	chr6:27114514..27116900-chr9:110249066..110251372,2	MCF-7	breast:
36	chr9:110246852..110249468-chr9:110266978..110269904,2	MCF-7	breast:
37	chr9:110247849..110250590-chr9:111329415..111332131,3	MCF-7	breast:
38	chr9:110249421..110250120-chr9:110279381..110280253,2	MCF-7	breast:
39	chr9:110189538..110195123-chr9:110249494..110254933,10	MCF-7	breast:
40	chr9:110248818..110250564-chr9:110802870..110804460,2	MCF-7	breast:
41	chr9:110184526..110185075-chr9:110249421..110250069,3	MCF-7	breast:
42	chr9:110246472..110248757-chr9:111030906..111033731,4	MCF-7	breast:
43	chr9:110243041..110245201-chr9:110246252..110249576,3	K562	blood:

No data

Variant related genes	Relation type
KLF4	TF binding region
KLF4	CpG island
ENSG00000259006	chromatin interactions
ENSG00000227350	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000104450	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000263459	chromatin interactions
ENSG00000178814	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000136826	chromatin interactions
ENSG00000234229	chromatin interactions
ENSG00000272195	chromatin interactions
ENSG00000222459	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000102218	chromatin interactions
ENSG00000226825	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000138166	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000119318	chromatin interactions
ENSG00000197903	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568218518	chr9:110248623-110248624	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182333785	chr9:110248642-110248643	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575321462	chr9:110248644-110248645	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572085256	chr9:110248675-110248676	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545514452	chr9:110248693-110248694	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568907210	chr9:110248707-110248708	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557699472	chr9:110248792-110248793	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576351701	chr9:110248793-110248794	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543662595	chr9:110248794-110248795	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547583682	chr9:110248843-110248844	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs187818000	chr9:110248852-110248853	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs539393242	chr9:110248865-110248866	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140105428	chr9:110248866-110248867	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541613323	chr9:110248889-110248890	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs45512100	chr9:110248913-110248914	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138803751	chr9:110248924-110248925	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs533453555	chr9:110248930-110248931	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs191431684	chr9:110248931-110248932	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566818974	chr9:110248944-110248945	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570016847	chr9:110248951-110248952	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs531645639	chr9:110248956-110248957	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550136622	chr9:110248981-110248982	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs143820994	chr9:110248993-110248994	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534427641	chr9:110249013-110249014	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs535318030	chr9:110249020-110249021	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs45570842	chr9:110249044-110249045	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183319264	chr9:110249050-110249051	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12336189	chr9:110249056-110249057	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571581502	chr9:110249084-110249085	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs377324492	chr9:110249101-110249102	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs367981484	chr9:110249105-110249106	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs575592825	chr9:110249106-110249107	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs536640496	chr9:110249148-110249149	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs372139021	chr9:110249152-110249153	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs555689191	chr9:110249154-110249155	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs573975678	chr9:110249155-110249156	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs541299285	chr9:110249158-110249159	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs188710324	chr9:110249165-110249166	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs578034275	chr9:110249176-110249177	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs192286532	chr9:110249185-110249186	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs571372163	chr9:110249202-110249203	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs563760232	chr9:110249204-110249205	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs111928520	chr9:110249226-110249227	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs530970721	chr9:110249242-110249243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs549375792	chr9:110249251-110249252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs199539323	chr9:110249265-110249266	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs369005434	chr9:110249278-110249279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs201493293	chr9:110249283-110249284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs547294800	chr9:110249299-110249300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs184817671	chr9:110249316-110249317	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110242800-110249000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:110243000-110249600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:110243200-110248800	Weak transcription	Fetal Lung	lung
4	chr9:110244000-110249200	Weak transcription	A549	lung
5	chr9:110244000-110250400	Weak transcription	HSMMtube	muscle
6	chr9:110246000-110249000	Weak transcription	Spleen	Spleen
7	chr9:110246000-110249800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:110246200-110253800	Active TSS	Right Atrium	heart
9	chr9:110246600-110249000	Weak transcription	Brain Anterior Caudate	brain
10	chr9:110247000-110249000	Active TSS	Fetal Stomach	stomach
11	chr9:110247000-110249600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:110247000-110249800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
13	chr9:110247000-110249800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
14	chr9:110247000-110250600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:110247200-110248800	Active TSS	Rectal Smooth Muscle	rectum
16	chr9:110247200-110249000	Active TSS	Colonic Mucosa	Colon
17	chr9:110247200-110249600	Transcr. at gene 5' and 3'	NHEK	skin
18	chr9:110247200-110250000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:110247200-110250400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
20	chr9:110247200-110250600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:110247200-110250800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:110247200-110254000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr9:110247400-110248600	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr9:110247400-110249000	Active TSS	Fetal Intestine Small	intestine
25	chr9:110247400-110249200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:110247400-110249200	Active TSS	Right Ventricle	heart
27	chr9:110247400-110249400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
28	chr9:110247400-110249600	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
29	chr9:110247400-110249600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr9:110247400-110249800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
31	chr9:110247400-110251400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
32	chr9:110247400-110253800	Active TSS	Psoas Muscle	Psoas
33	chr9:110247600-110248600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:110247600-110248800	Genic enhancers	Placenta	Placenta
35	chr9:110247600-110250400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
36	chr9:110247600-110250600	Active TSS	Brain Hippocampus Middle	brain
37	chr9:110247600-110250600	Active TSS	Small Intestine	intestine
38	chr9:110247600-110250600	Transcr. at gene 5' and 3'	NHLF	lung
39	chr9:110247800-110248600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:110247800-110249400	Active TSS	Left Ventricle	heart
41	chr9:110248000-110248600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
42	chr9:110248000-110248600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr9:110248000-110249000	Weak transcription	Brain Substantia Nigra	brain
44	chr9:110248000-110249000	Genic enhancers	Ovary	ovary
45	chr9:110248000-110250800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:110248200-110248800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr9:110248200-110248800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:110248200-110249000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:110248200-110249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr9:110248200-110249000	Active TSS	Fetal Muscle Leg	muscle

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