Variant report

Variant	nsv615756
Chromosome Location	chr9:136856591-136859913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1095)
CpG islands
(count:368)
Chromatin interactive
region (count:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1095 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:136859562-136859782	HepG2	liver:	n/a	n/a
2	BACH1	chr9:136857281-136858367	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:136856855-136856872	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:136858165-136858241	K562	blood:	n/a	n/a
5	BCL3	chr9:136857966-136858629	A549	lung:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
6	BCL3	chr9:136857104-136857688	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857667-136857680 chr9:136857587-136857600
7	BCLAF1	chr9:136857182-136857925	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857722-136857735 chr9:136857667-136857680 chr9:136857587-136857600 chr9:136857703-136857716
8	BCLAF1	chr9:136857949-136858391	GM12878	blood:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
9	BHLHE40	chr9:136858022-136858718	GM12878	blood:	n/a	chr9:136858292-136858308
10	BHLHE40	chr9:136857536-136857643	K562	blood:	n/a	n/a
11	BHLHE40	chr9:136857175-136857795	GM12878	blood:	n/a	chr9:136857723-136857739
12	BHLHE40	chr9:136858375-136858412	K562	blood:	n/a	n/a
13	BHLHE40	chr9:136859506-136859800	K562	blood:	n/a	n/a
14	BHLHE40	chr9:136857238-136857657	HepG2	liver:	n/a	n/a
15	BHLHE40	chr9:136859537-136859868	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:136856410-136856656	GM12878	blood:	n/a	n/a
17	BRCA1	chr9:136859571-136859661	HepG2	liver:	n/a	n/a
18	BRCA1	chr9:136857229-136857386	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr9:136858624-136858795	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr9:136859495-136859859	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr9:136859697-136859701	GM12878	blood:	n/a	n/a
22	CCNT2	chr9:136857387-136858522	K562	blood:	n/a	chr9:136858030-136858039 chr9:136858444-136858453
23	CEBPB	chr9:136856033-136856632	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr9:136859558-136859784	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr9:136857190-136857515	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr9:136858175-136858310	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr9:136858693-136858716	K562	blood:	n/a	n/a
28	CEBPB	chr9:136858000-136858845	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr9:136859569-136859830	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr9:136858552-136858776	HepG2	liver:	n/a	n/a
31	CEBPD	chr9:136858491-136858779	HepG2	liver:	n/a	n/a
32	CEBPD	chr9:136857224-136858245	HepG2	liver:	n/a	n/a
33	CHD1	chr9:136859517-136859839	GM12878	blood:	n/a	n/a
34	CHD1	chr9:136857138-136857719	GM12878	blood:	n/a	n/a
35	CHD1	chr9:136858037-136858270	GM12878	blood:	n/a	n/a
36	CHD1	chr9:136859440-136860013	IMR90	lung:	n/a	n/a
37	CHD1	chr9:136856298-136856917	GM12878	blood:	n/a	n/a
38	CHD2	chr9:136859566-136859858	GM12878	blood:	n/a	n/a
39	CHD2	chr9:136859515-136859800	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr9:136858529-136858895	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr9:136857297-136857649	GM12878	blood:	n/a	n/a
42	CHD2	chr9:136856898-136856914	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr9:136859560-136859822	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr9:136858134-136858208	HepG2	liver:	n/a	n/a
45	CHD2	chr9:136858072-136858265	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr9:136858047-136858683	GM12878	blood:	n/a	n/a
47	CHD2	chr9:136859551-136859813	HepG2	liver:	n/a	n/a
48	CHD2	chr9:136857187-136858328	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr9:136858121-136858164	K562	blood:	n/a	n/a
50	CREB1	chr9:136857061-136858967	HepG2	liver:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136858673-136858723	HRE	kidney:	n/a
2	chr9:136858680-136858730	GM06990	blood:	n/a
3	chr9:136858673-136858723	HRE	kidney:	n/a
4	chr9:136858680-136858730	GM06990	blood:	n/a
5	chr9:136858673-136858723	PANC-1	pancreas:	n/a
6	chr9:136858680-136858730	SK-N-MC	brain:	n/a
7	chr9:136858673-136858723	AG04449	skin:	fetal
8	chr9:136858673-136858723	HIPEpiC	eye:	n/a
9	chr9:136858673-136858723	NH-A	brain:	n/a
10	chr9:136857244-136857294	GM19239	blood:	n/a
11	chr9:136858673-136858723	SK-N-MC	brain:	n/a
12	chr9:136857244-136857294	H1-hESC	embryonic stem cell:	embryo
13	chr9:136858163-136858213	RPTEC	kidney:	n/a
14	chr9:136858163-136858213	HCPEpiC	choroid plexus:	n/a
15	chr9:136857190-136857240	SAEC	small airway:	n/a
16	chr9:136858308-136858358	Hepatocyte	liver:	n/a
17	chr9:136858680-136858730	GM12891	blood:	n/a
18	chr9:136858308-136858358	AoSMC	blood vessel:	n/a
19	chr9:136858673-136858723	NHDF-neo	bronchial:	n/a
20	chr9:136858163-136858213	HRE	kidney:	n/a
21	chr9:136858163-136858213	HEEpiC	esophagus:	n/a
22	chr9:136857190-136857240	SKMC	muscle:	n/a
23	chr9:136858163-136858213	U87	brain:	n/a
24	chr9:136857244-136857294	HCPEpiC	choroid plexus:	n/a
25	chr9:136857190-136857240	AG04449	skin:	fetal
26	chr9:136858308-136858358	SKMC	muscle:	n/a
27	chr9:136857244-136857294	Hela-S3	cervix:	n/a
28	chr9:136858308-136858358	HEK293	kidney:	embryo
29	chr9:136858680-136858730	HEK293	kidney:	embryo
30	chr9:136858163-136858213	PANC-1	pancreas:	n/a
31	chr9:136857244-136857294	SKMC	muscle:	n/a
32	chr9:136858673-136858723	BE2_C	brain:	n/a
33	chr9:136858163-136858213	MCF10A-Er-Src	breast:	n/a
34	chr9:136857190-136857240	GM19239	blood:	n/a
35	chr9:136858308-136858358	HAEpiC	amniotic membrane:	n/a
36	chr9:136857190-136857240	NHDF-neo	bronchial:	n/a
37	chr9:136858308-136858358	HPAEpiC	pulmonary alveolar:	n/a
38	chr9:136858308-136858358	GM12892	blood:	n/a
39	chr9:136858308-136858358	PANC-1	pancreas:	n/a
40	chr9:136857190-136857240	HRE	kidney:	n/a
41	chr9:136858673-136858723	HCF	heart:	n/a
42	chr9:136858673-136858723	HEEpiC	esophagus:	n/a
43	chr9:136858163-136858213	SK-N-MC	brain:	n/a
44	chr9:136858680-136858730	HEEpiC	esophagus:	n/a
45	chr9:136857244-136857294	NB4	blood:	n/a
46	chr9:136857244-136857294	T-47D	breast:	n/a
47	chr9:136858673-136858723	HCPEpiC	choroid plexus:	n/a
48	chr9:136858680-136858730	PANC-1	pancreas:	n/a
49	chr9:136857244-136857294	HIPEpiC	eye:	n/a
50	chr9:136858308-136858358	SK-N-SH_RA	brain:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136607827..136608773-chr9:136859602..136860351,4	MCF-7	breast:
2	chr9:136655962..136656512-chr9:136858875..136859685,2	K562	blood:
3	chr9:136657888..136659088-chr9:136857891..136858693,4	MCF-7	breast:
4	chr9:136647156..136647722-chr9:136857760..136858312,2	MCF-7	breast:
5	chr1:16678857..16679483-chr9:136857773..136858655,2	Hela-S3	cervix:
6	chr17:41465782..41466571-chr9:136857818..136858531,2	Hela-S3	cervix:
7	chr9:136600335..136600989-chr9:136859268..136860138,2	MCF-7	breast:
8	chr17:58677435..58680394-chr9:136857896..136860386,2	MCF-7	breast:
9	chr9:136856335..136860882-chr9:136888369..136892368,8	MCF-7	breast:
10	chr9:136662303..136663068-chr9:136859673..136860648,2	MCF-7	breast:
11	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
12	chr22:43010797..43011769-chr9:136856743..136857657,2	Hela-S3	cervix:
13	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
14	chr9:136657511..136659120-chr9:136859180..136860603,16	MCF-7	breast:
15	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
16	chr9:136591900..136594207-chr9:136858637..136860236,2	MCF-7	breast:
17	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
18	chr9:136594711..136597550-chr9:136858767..136860355,2	MCF-7	breast:
19	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
20	chr9:136372726..136374611-chr9:136854336..136856756,2	MCF-7	breast:
21	chr9:136647409..136647939-chr9:136859642..136860182,3	K562	blood:
22	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
23	chr9:136657412..136658751-chr9:136858523..136860164,12	K562	blood:
24	chr9:136667141..136668984-chr9:136855421..136857150,2	MCF-7	breast:
25	chr17:7387387..7388059-chr9:136856964..136857786,2	Hela-S3	cervix:
26	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
27	chr9:136647007..136648956-chr9:136858795..136860235,12	MCF-7	breast:
28	chr9:136646919..136648935-chr9:136858713..136860466,10	MCF-7	breast:
29	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
30	chr9:136859325..136860777-chr9:136964002..136965283,7	MCF-7	breast:
31	chr9:136859431..136860674-chr9:136964030..136964900,5	MCF-7	breast:
32	chr9:136592463..136593107-chr9:136859236..136860141,3	MCF-7	breast:
33	chr9:136217971..136219533-chr9:136857799..136859450,2	MCF-7	breast:
34	chr9:136819042..136820561-chr9:136859120..136860817,2	MCF-7	breast:
35	chr17:56084236..56085114-chr9:136858119..136858641,2	Hela-S3	cervix:
36	chr9:136592345..136593069-chr9:136859637..136860159,2	MCF-7	breast:
37	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
38	chr9:136657819..136658763-chr9:136858806..136859951,5	MCF-7	breast:
39	chr9:136655644..136657543-chr9:136859054..136861724,2	K562	blood:
40	chr9:136747429..136748291-chr9:136859497..136860075,2	MCF-7	breast:
41	chr9:136607693..136608878-chr9:136859235..136860612,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-7	chr9:136857728-136861324	NONHSAT135347

No data

Variant related genes	Relation type
VAV2	TF binding region
VAV2	CpG island
ENSG00000136450	chromatin interactions
ENSG00000037637	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000055070	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000123453	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539732337	chr9:136856591-136856592	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558060567	chr9:136856666-136856667	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2789866	chr9:136856683-136856684	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537057645	chr9:136856715-136856716	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555121219	chr9:136856785-136856786	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs146132356	chr9:136856797-136856798	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540808957	chr9:136856916-136856917	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs553116387	chr9:136856969-136856970	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs577939518	chr9:136856987-136856988	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs545296207	chr9:136856992-136856993	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs562168706	chr9:136857109-136857110	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs572311550	chr9:136857114-136857115	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs563591366	chr9:136857136-136857137	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs200921358	chr9:136857153-136857154	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs543804374	chr9:136857173-136857174	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs149600358	chr9:136857200-136857201	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs146348137	chr9:136857206-136857207	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs368115750	chr9:136857226-136857227	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs529382438	chr9:136857242-136857243	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs139069968	chr9:136857290-136857291	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs547612545	chr9:136857308-136857309	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs371581138	chr9:136857314-136857315	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs375205296	chr9:136857346-136857347	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs199848123	chr9:136857404-136857405	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs533361404	chr9:136857410-136857411	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs201778394	chr9:136857416-136857417	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs570014563	chr9:136857423-136857424	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs537388617	chr9:136857435-136857436	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs548952971	chr9:136857436-136857437	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs368292098	chr9:136857440-136857441	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs534692454	chr9:136857475-136857476	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs553126103	chr9:136857495-136857496	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs112762971	chr9:136857510-136857511	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs111661179	chr9:136857513-136857514	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs577878135	chr9:136857518-136857519	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs538845999	chr9:136857530-136857531	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs557246994	chr9:136857618-136857619	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs575492766	chr9:136857788-136857789	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs188799263	chr9:136857828-136857829	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs562100841	chr9:136857901-136857902	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs573980949	chr9:136857907-136857908	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs541489024	chr9:136857948-136857949	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs559426981	chr9:136858063-136858064	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs533301021	chr9:136858073-136858074	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs534665574	chr9:136858075-136858076	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs551554088	chr9:136858082-136858083	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs35454497	chr9:136858103-136858104	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs563578803	chr9:136858105-136858106	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs557903981	chr9:136858142-136858143	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs377605754	chr9:136858145-136858146	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	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
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136855000-136856800	Flanking Active TSS	Colonic Mucosa	Colon
2	chr9:136855000-136858800	Active TSS	Rectal Smooth Muscle	rectum
3	chr9:136855200-136858800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:136855200-136858800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr9:136855200-136859000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:136855400-136856600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr9:136855400-136858200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:136855400-136858400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:136855400-136858400	Active TSS	GM12878-XiMat	blood
10	chr9:136855600-136856600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr9:136855600-136856600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr9:136855600-136856600	Enhancers	Fetal Heart	heart
14	chr9:136855600-136856600	Flanking Active TSS	Lung	lung
15	chr9:136855600-136856600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr9:136855600-136858400	Active TSS	HSMMtube	muscle
19	chr9:136855600-136859000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:136855800-136856600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr9:136855800-136856600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:136855800-136856600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
23	chr9:136855800-136856600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr9:136855800-136856600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr9:136855800-136856600	Flanking Active TSS	Esophagus	oesophagus
26	chr9:136855800-136856600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr9:136855800-136856600	Flanking Active TSS	Gastric	stomach
28	chr9:136855800-136856800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr9:136855800-136857000	Flanking Active TSS	Right Ventricle	heart
30	chr9:136855800-136858200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:136855800-136858400	Active TSS	HSMM	muscle
32	chr9:136855800-136858600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:136855800-136858800	Active TSS	HepG2	liver
34	chr9:136856000-136856600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
35	chr9:136856000-136856600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:136856000-136856600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:136856000-136856600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:136856000-136856800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr9:136856000-136856800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:136856000-136858200	Active TSS	Fetal Brain Female	brain
41	chr9:136856000-136858400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:136856000-136858400	Active TSS	Brain Anterior Caudate	brain
43	chr9:136856000-136858400	Active TSS	Fetal Intestine Small	intestine
44	chr9:136856000-136858400	Active TSS	Osteobl	bone
45	chr9:136856000-136858600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:136856000-136858600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:136856000-136858600	Active TSS	Small Intestine	intestine
48	chr9:136856000-136858800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:136856000-136858800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr9:136856000-136858800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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