Variant report

Variant	esv3438128
Chromosome Location	chr9:140445156-140447704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:679)
CpG islands
(count:427)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:679 , 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	chr9:140445812-140446093	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr9:140445891-140445908	K562	blood:	n/a	n/a
3	BCL3	chr9:140446495-140447277	A549	lung:	n/a	chr9:140446514-140446527
4	BCL3	chr9:140446470-140447336	A549	lung:	n/a	chr9:140446514-140446527
5	BCLAF1	chr9:140446664-140447061	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:140446341-140446464	K562	blood:	n/a	n/a
7	BHLHE40	chr9:140445842-140446042	GM12878	blood:	n/a	chr9:140445881-140445897
8	BHLHE40	chr9:140445821-140446098	K562	blood:	n/a	chr9:140445881-140445897
9	BRCA1	chr9:140445938-140446071	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr9:140446570-140447020	K562	blood:	n/a	n/a
11	CBX3	chr9:140445754-140446101	K562	blood:	n/a	n/a
12	CCNT2	chr9:140445684-140446909	K562	blood:	n/a	n/a
13	CEBPB	chr9:140446756-140446772	K562	blood:	n/a	n/a
14	CEBPB	chr9:140445888-140445963	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr9:140446183-140446577	HepG2	liver:	n/a	n/a
16	CHD1	chr9:140446613-140446783	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr9:140446424-140446648	GM12878	blood:	n/a	n/a
18	CHD2	chr9:140445738-140446999	GM12878	blood:	n/a	n/a
19	CHD2	chr9:140445726-140446611	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr9:140445897-140446058	HepG2	liver:	n/a	n/a
21	CHD2	chr9:140446217-140446497	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr9:140446911-140446947	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr9:140446311-140446853	HepG2	liver:	n/a	n/a
24	CHD2	chr9:140445921-140447101	K562	blood:	n/a	n/a
25	CREB1	chr9:140446174-140446540	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr9:140446187-140446937	A549	lung:	n/a	n/a
27	CREB1	chr9:140446182-140447240	HepG2	liver:	n/a	n/a
28	CREB1	chr9:140445710-140446093	A549	lung:	n/a	n/a
29	CTCF	chr9:140445899-140446126	Pancreas_OC	pancreas:	n/a	chr9:140446018-140446031
30	CTCF	chr9:140445940-140446090	K562	blood:	n/a	chr9:140446018-140446031
31	CTCF	chr9:140445920-140446070	HAc	cerebellar:	n/a	chr9:140446018-140446031
32	CTCF	chr9:140445900-140446050	HUVEC	blood vessel:	n/a	chr9:140446018-140446031
33	CTCF	chr9:140445745-140446070	A549	lung:	n/a	chr9:140446018-140446031
34	CTCF	chr9:140445920-140446070	HVMF	connective:	n/a	chr9:140446018-140446031
35	CTCF	chr9:140445920-140446070	GM12864	blood:	n/a	chr9:140446018-140446031
36	CTCF	chr9:140445889-140446138	MCF-7	breast:	n/a	chr9:140446018-140446031
37	CTCF	chr9:140445732-140446152	K562	blood:	n/a	chr9:140446018-140446031
38	CTCF	chr9:140445920-140446070	GM12873	blood:	n/a	chr9:140446018-140446031
39	CTCF	chr9:140445884-140446087	SK-N-SH_RA	brain:	n/a	chr9:140446018-140446031
40	CTCF	chr9:140445860-140446010	NHEK	skin:	n/a	n/a
41	CTCF	chr9:140445920-140446070	WI-38	lung:	n/a	chr9:140446018-140446031
42	CTCF	chr9:140445549-140446629	SK-N-SH	brain:	n/a	chr9:140446018-140446031 chr9:140446519-140446532
43	CTCF	chr9:140445900-140446126	MCF-7	breast:	n/a	chr9:140446018-140446031
44	CTCF	chr9:140445940-140446090	HUVEC	blood vessel:	n/a	chr9:140446018-140446031
45	CTCF	chr9:140445940-140446090	Caco-2	colon:	n/a	chr9:140446018-140446031
46	CTCF	chr9:140445920-140446070	SAEC	small airway:	n/a	chr9:140446018-140446031
47	CTCF	chr9:140445920-140446070	Hela-S3	cervix:	n/a	chr9:140446018-140446031
48	CTCF	chr9:140445920-140446070	HepG2	liver:	n/a	chr9:140446018-140446031
49	CTCF	chr9:140445972-140446079	HUVEC	blood vessel:	n/a	chr9:140446018-140446031
50	CTCF	chr9:140445891-140446126	GM13977	blood:	n/a	chr9:140446018-140446031

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140446823-140446873	Hepatocyte	liver:	n/a
2	chr9:140446240-140446290	HIPEpiC	eye:	n/a
3	chr9:140446458-140446508	HL-60	blood:	n/a
4	chr9:140446656-140446706	BE2_C	brain:	n/a
5	chr9:140445760-140445810	IMR90	lung:	fetal
6	chr9:140446240-140446290	HPAEpiC	pulmonary alveolar:	n/a
7	chr9:140446240-140446290	NHBE	bronchial:	n/a
8	chr9:140446240-140446290	AG09309	skin:	n/a
9	chr9:140446993-140447043	MCF-7	breast:	n/a
10	chr9:140446458-140446508	HAEpiC	amniotic membrane:	n/a
11	chr9:140446823-140446873	GM12891	blood:	n/a
12	chr9:140446458-140446508	AG09309	skin:	n/a
13	chr9:140446240-140446290	AoSMC	blood vessel:	n/a
14	chr9:140446656-140446706	MCF10A-Er-Src	breast:	n/a
15	chr9:140447608-140447658	K562	blood:	n/a
16	chr9:140446823-140446873	MCF10A-Er-Src	breast:	n/a
17	chr9:140445760-140445810	SK-N-MC	brain:	n/a
18	chr9:140446656-140446706	HEEpiC	esophagus:	n/a
19	chr9:140446656-140446706	ProgFib	skin:	n/a
20	chr9:140446656-140446706	BJ	skin:	n/a
21	chr9:140446458-140446508	H1-hESC	embryonic stem cell:	embryo
22	chr9:140446240-140446290	HUVEC	blood vessel:	n/a
23	chr9:140446823-140446873	SK-N-MC	brain:	n/a
24	chr9:140446993-140447043	NB4	blood:	n/a
25	chr9:140446993-140447043	Hela-S3	cervix:	n/a
26	chr9:140447608-140447658	NHBE	bronchial:	n/a
27	chr9:140447608-140447658	SK-N-SH_RA	brain:	n/a
28	chr9:140446823-140446873	A549	lung:	n/a
29	chr9:140446656-140446706	HNPCEpiC	eye:	n/a
30	chr9:140446458-140446508	HPAEpiC	pulmonary alveolar:	n/a
31	chr9:140446458-140446508	LNCaP	prostate:	n/a
32	chr9:140446823-140446873	GM19239	blood:	n/a
33	chr9:140445760-140445810	U87	brain:	n/a
34	chr9:140446993-140447043	AG09309	skin:	n/a
35	chr9:140447608-140447658	AG10803	skin:	n/a
36	chr9:140446823-140446873	GM12892	blood:	n/a
37	chr9:140446240-140446290	HL-60	blood:	n/a
38	chr9:140446240-140446290	Caco-2	colon:	n/a
39	chr9:140445760-140445810	HRE	kidney:	n/a
40	chr9:140446993-140447043	HRCEpiC	kidney:	n/a
41	chr9:140446823-140446873	BE2_C	brain:	n/a
42	chr9:140445760-140445810	NHBE	bronchial:	n/a
43	chr9:140445760-140445810	Jurkat	blood:	n/a
44	chr9:140446993-140447043	HRE	kidney:	n/a
45	chr9:140446823-140446873	SAEC	small airway:	n/a
46	chr9:140446823-140446873	PANC-1	pancreas:	n/a
47	chr9:140446240-140446290	GM12878	blood:	n/a
48	chr9:140446823-140446873	IMR90	lung:	fetal
49	chr9:140446656-140446706	HRCEpiC	kidney:	n/a
50	chr9:140446458-140446508	HCT-116	colon:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140443433..140448155-chr9:140497818..140502870,8	MCF-7	breast:
2	chr9:140439935..140442817-chr9:140445009..140447280,2	MCF-7	breast:
3	chr9:140446439..140449718-chr9:140469897..140473461,3	K562	blood:
4	chr9:140441799..140446269-chr9:140505086..140508400,5	MCF-7	breast:
5	chr9:140395969..140398056-chr9:140445670..140447895,2	K562	blood:
6	chr9:140444528..140447263-chr9:140504669..140508200,5	MCF-7	breast:
7	chr9:140445818..140448729-chr9:140451345..140453162,4	MCF-7	breast:
8	chr9:140444557..140448587-chr9:140470804..140473699,6	MCF-7	breast:
9	chr19:48281795..48283367-chr9:140445657..140447919,2	MCF-7	breast:
10	chr9:140444055..140447780-chr9:140498087..140502451,7	MCF-7	breast:
11	chr9:140205840..140207870-chr9:140446473..140449405,2	MCF-7	breast:
12	chr9:140130666..140131228-chr9:140445991..140446498,2	K562	blood:
13	chr9:140193137..140197903-chr9:140443164..140449787,14	MCF-7	breast:
14	chr9:140188507..140191128-chr9:140444764..140447765,3	MCF-7	breast:
15	chr9:140189588..140190355-chr9:140445590..140446295,2	MCF-7	breast:
16	chr9:140443274..140446260-chr9:140471876..140474598,3	K562	blood:
17	chr9:140355494..140357648-chr9:140446528..140449268,2	K562	blood:
18	chr9:140444476..140446866-chr9:140469262..140473127,6	MCF-7	breast:
19	chr9:140445810..140448101-chr9:140449501..140452314,4	K562	blood:
20	chr9:140171323..140173620-chr9:140444809..140447880,3	K562	blood:
21	chr9:140444243..140447461-chr9:140473220..140477204,4	MCF-7	breast:
22	chr9:140443475..140446294-chr9:140484220..140486836,3	MCF-7	breast:
23	chr14:81687170..81687965-chr9:140446133..140446842,2	Hela-S3	cervix:
24	chr9:140352080..140354787-chr9:140444624..140448715,3	MCF-7	breast:
25	chr8:135112230..135113008-chr9:140445827..140446528,2	MCF-7	breast:
26	chr9:140170828..140173620-chr9:140446274..140448338,3	K562	blood:
27	chr9:140447049..140448753-chr9:140497892..140500070,2	K562	blood:
28	chr9:140447442..140450048-chr9:140483763..140485400,2	MCF-7	breast:
29	chr9:140189775..140190406-chr9:140445582..140446845,3	K562	blood:
30	chr9:140118466..140120300-chr9:140443395..140446342,2	MCF-7	breast:
31	chr9:140188389..140190191-chr9:140444959..140446807,2	MCF-7	breast:
32	chr9:140317304..140318861-chr9:140444413..140447408,2	K562	blood:
33	chr9:140444420..140448721-chr9:140471876..140474832,3	K562	blood:
34	chr9:140447426..140450339-chr9:140645965..140648548,2	K562	blood:
35	chr9:140445002..140446703-chr9:140512317..140515053,2	MCF-7	breast:
36	chr9:140444995..140447677-chr9:140508337..140511208,2	MCF-7	breast:
37	chr9:140446189..140447738-chr9:140484697..140486582,2	K562	blood:
38	chr9:140444986..140448753-chr9:140497892..140501428,4	K562	blood:
39	chr9:140081713..140085345-chr9:140445556..140447863,3	MCF-7	breast:

No data

Variant related genes	Relation type
PNPLA7	TF binding region
MRPL41	TF binding region
PNPLA7	CpG island
MRPL41	CpG island
ENSG00000198113	chromatin interactions
ENSG00000130653	chromatin interactions
ENSG00000188747	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000187609	chromatin interactions
ENSG00000197070	chromatin interactions
ENSG00000148399	chromatin interactions
ENSG00000176248	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000197191	chromatin interactions
ENSG00000176101	chromatin interactions
ENSG00000203993	chromatin interactions
ENSG00000263933	chromatin interactions
ENSG00000178980	chromatin interactions
ENSG00000198435	chromatin interactions
ENSG00000181090	chromatin interactions
ENSG00000260996	chromatin interactions
ENSG00000165724	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113188013	chr9:140445167-140445168	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs113659841	chr9:140445183-140445184	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs371394917	chr9:140445584-140445585	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs111730524	chr9:140445648-140445649	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs540617905	chr9:140445654-140445655	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs550149458	chr9:140445669-140445670	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs567582963	chr9:140445697-140445698	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs374785555	chr9:140445737-140445738	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs546793434	chr9:140445765-140445766	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs566516408	chr9:140445823-140445824	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs4308848	chr9:140445849-140445850	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs115681155	chr9:140445871-140445872	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs569373144	chr9:140445881-140445882	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs538283299	chr9:140445894-140445895	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs554987472	chr9:140445895-140445896	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs575105947	chr9:140446043-140446044	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs367780333	chr9:140446050-140446051	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs371179222	chr9:140446090-140446091	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs371615488	chr9:140446101-140446102	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs540543550	chr9:140446124-140446125	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs528392577	chr9:140446141-140446142	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs554352249	chr9:140446157-140446158	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs577319040	chr9:140446171-140446172	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs545983963	chr9:140446172-140446173	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs564678638	chr9:140446347-140446348	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs147383075	chr9:140446357-140446358	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs543830323	chr9:140446399-140446400	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs560691288	chr9:140446407-140446408	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs530015471	chr9:140446411-140446412	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs13289623	chr9:140446456-140446457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs13289628	chr9:140446463-140446464	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs369439866	chr9:140446558-140446559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs373518805	chr9:140446627-140446628	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs13783	chr9:140446633-140446634	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs546538703	chr9:140446663-140446664	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs113973456	chr9:140446666-140446667	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs150240805	chr9:140446667-140446668	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs138900488	chr9:140446673-140446674	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs372992526	chr9:140446680-140446681	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs376218719	chr9:140446689-140446690	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs149264137	chr9:140446707-140446708	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs563864448	chr9:140446712-140446713	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs12834	chr9:140446713-140446714	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs369261664	chr9:140446730-140446731	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs373363781	chr9:140446733-140446734	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs377765182	chr9:140446794-140446795	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs11555676	chr9:140446796-140446797	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs375117989	chr9:140446803-140446804	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs1048370	chr9:140446806-140446807	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs11555677	chr9:140446856-140446857	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140444000-140447200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:140444200-140445200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:140444200-140445600	Enhancers	Placenta	Placenta
4	chr9:140444400-140445200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr9:140444400-140445200	Flanking Active TSS	Fetal Stomach	stomach
6	chr9:140444400-140445200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr9:140444400-140445600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:140444400-140446800	Active TSS	Gastric	stomach
9	chr9:140444400-140447200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:140444600-140445200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr9:140444600-140445200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr9:140444600-140445600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:140444600-140445600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:140444600-140445600	Enhancers	HUVEC	blood vessel
15	chr9:140444600-140446800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr9:140444600-140446800	Active TSS	Esophagus	oesophagus
17	chr9:140444600-140446800	Active TSS	Pancreas	Pancrea
18	chr9:140444600-140446800	Active TSS	Osteobl	bone
19	chr9:140444600-140447000	Active TSS	Lung	lung
20	chr9:140444600-140447000	Active TSS	Ovary	ovary
21	chr9:140444600-140447400	Active TSS	Right Atrium	heart
22	chr9:140444800-140445200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr9:140444800-140445400	Weak transcription	Aorta	Aorta
24	chr9:140444800-140445600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:140444800-140445600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:140444800-140445600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:140444800-140445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:140444800-140445600	Weak transcription	Fetal Kidney	kidney
29	chr9:140444800-140445600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:140444800-140445600	Enhancers	Dnd41	blood
31	chr9:140444800-140445600	Weak transcription	NHDF-Ad	bronchial
32	chr9:140444800-140445600	Weak transcription	NHEK	skin
33	chr9:140444800-140445600	Active TSS	NHLF	lung
34	chr9:140444800-140446600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr9:140444800-140446600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:140444800-140446600	Active TSS	Brain Cingulate Gyrus	brain
37	chr9:140444800-140446600	Active TSS	Colonic Mucosa	Colon
38	chr9:140444800-140446600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:140444800-140446600	Active TSS	Thymus	Thymus
40	chr9:140444800-140446800	Active TSS	Primary T cells from cord blood	blood
41	chr9:140444800-140446800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:140444800-140446800	Active TSS	Brain Angular Gyrus	brain
43	chr9:140444800-140446800	Active TSS	Brain Anterior Caudate	brain
44	chr9:140444800-140446800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:140444800-140446800	Active TSS	Duodenum Mucosa	Duodenum
46	chr9:140444800-140446800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr9:140444800-140446800	Active TSS	Fetal Intestine Small	intestine
48	chr9:140444800-140446800	Active TSS	Rectal Smooth Muscle	rectum
49	chr9:140444800-140446800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr9:140444800-140447000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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