Variant report

Variant	esv3412817
Chromosome Location	chr9:136856181-136858954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:886)
CpG islands
(count:489)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:136856855-136856872	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr9:136858165-136858241	K562	blood:	n/a	n/a
3	BACH1	chr9:136857281-136858367	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:136856324-136856351	H1-hESC	embryonic stem cell:	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	chr9:136857949-136858391	GM12878	blood:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
8	BCLAF1	chr9:136857182-136857925	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857722-136857735 chr9:136857667-136857680 chr9:136857587-136857600 chr9:136857703-136857716
9	BHLHE40	chr9:136857175-136857795	GM12878	blood:	n/a	chr9:136857723-136857739
10	BHLHE40	chr9:136858022-136858718	GM12878	blood:	n/a	chr9:136858292-136858308
11	BHLHE40	chr9:136858375-136858412	K562	blood:	n/a	n/a
12	BHLHE40	chr9:136857536-136857643	K562	blood:	n/a	n/a
13	BHLHE40	chr9:136856410-136856656	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:136857238-136857657	HepG2	liver:	n/a	n/a
15	BRCA1	chr9:136857229-136857386	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr9:136858624-136858795	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr9:136856472-136856482	Hela-S3	cervix:	n/a	n/a
18	CCNT2	chr9:136857387-136858522	K562	blood:	n/a	chr9:136858030-136858039 chr9:136858444-136858453
19	CEBPB	chr9:136858552-136858776	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:136857190-136857515	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr9:136856519-136856548	HepG2	liver:	n/a	n/a
22	CEBPB	chr9:136858000-136858845	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr9:136858693-136858716	K562	blood:	n/a	n/a
24	CEBPB	chr9:136858175-136858310	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr9:136856033-136856632	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr9:136858491-136858779	HepG2	liver:	n/a	n/a
27	CEBPD	chr9:136857224-136858245	HepG2	liver:	n/a	n/a
28	CHD1	chr9:136857138-136857719	GM12878	blood:	n/a	n/a
29	CHD1	chr9:136858037-136858270	GM12878	blood:	n/a	n/a
30	CHD1	chr9:136856264-136856393	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr9:136856298-136856917	GM12878	blood:	n/a	n/a
32	CHD2	chr9:136856898-136856914	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr9:136857297-136857649	GM12878	blood:	n/a	n/a
34	CHD2	chr9:136856069-136856535	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr9:136858072-136858265	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr9:136858121-136858164	K562	blood:	n/a	n/a
37	CHD2	chr9:136857187-136858328	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr9:136858134-136858208	HepG2	liver:	n/a	n/a
39	CHD2	chr9:136858047-136858683	GM12878	blood:	n/a	n/a
40	CHD2	chr9:136858529-136858895	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr9:136857061-136858967	HepG2	liver:	n/a	n/a
42	CREB1	chr9:136857269-136858852	A549	lung:	n/a	n/a
43	CTCF	chr9:136857300-136857550	GM12871	blood:	n/a	n/a
44	CTCF	chr9:136858160-136858310	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr9:136857960-136858571	MCF-7	breast:	n/a	n/a
46	CTCF	chr9:136858160-136858310	HMEC	breast:	n/a	n/a
47	CTCF	chr9:136858180-136858330	GM12865	blood:	n/a	n/a
48	CTCF	chr9:136858180-136858330	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr9:136858180-136858330	BE2_C	brain:	n/a	n/a
50	CTCF	chr9:136858160-136858310	HCPEpiC	choroid plexus:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136857190-136857240	MCF-7	breast:	n/a
2	chr9:136857190-136857240	MCF-7	breast:	n/a
3	chr9:136858673-136858723	GM19239	blood:	n/a
4	chr9:136858680-136858730	HEK293	kidney:	embryo
5	chr9:136857190-136857240	MCF10A-Er-Src	breast:	n/a
6	chr9:136858680-136858730	IMR90	lung:	fetal
7	chr9:136856352-136856402	HL-60	blood:	n/a
8	chr9:136857190-136857240	NHDF-neo	bronchial:	n/a
9	chr9:136857244-136857294	NHDF-neo	bronchial:	n/a
10	chr9:136857244-136857294	CMK	blood:	n/a
11	chr9:136858308-136858358	Caco-2	colon:	n/a
12	chr9:136858308-136858358	MCF10A-Er-Src	breast:	n/a
13	chr9:136857244-136857294	ECC-1	luminal epithelium:	n/a
14	chr9:136857244-136857294	HRPEpiC	eye:	n/a
15	chr9:136858680-136858730	SKMC	muscle:	n/a
16	chr9:136858163-136858213	GM12878	blood:	n/a
17	chr9:136857190-136857240	NH-A	brain:	n/a
18	chr9:136857190-136857240	HEEpiC	esophagus:	n/a
19	chr9:136858308-136858358	AG10803	skin:	n/a
20	chr9:136857190-136857240	HRCEpiC	kidney:	n/a
21	chr9:136856435-136856485	HEK293	kidney:	embryo
22	chr9:136857244-136857294	AG04450	lung:	fetal
23	chr9:136858673-136858723	ECC-1	luminal epithelium:	n/a
24	chr9:136858308-136858358	Hela-S3	cervix:	n/a
25	chr9:136858680-136858730	CMK	blood:	n/a
26	chr9:136857244-136857294	NT2-D1	testis:	n/a
27	chr9:136858308-136858358	SK-N-SH_RA	brain:	n/a
28	chr9:136858308-136858358	U87	brain:	n/a
29	chr9:136858163-136858213	AG10803	skin:	n/a
30	chr9:136858673-136858723	PrEC	prostate:	n/a
31	chr9:136857190-136857240	T-47D	breast:	n/a
32	chr9:136857244-136857294	Hepatocyte	liver:	n/a
33	chr9:136857190-136857240	HRPEpiC	eye:	n/a
34	chr9:136857190-136857240	IMR90	lung:	fetal
35	chr9:136856352-136856402	GM19239	blood:	n/a
36	chr9:136856352-136856402	CMK	blood:	n/a
37	chr9:136857244-136857294	SK-N-MC	brain:	n/a
38	chr9:136858308-136858358	HL-60	blood:	n/a
39	chr9:136858673-136858723	HCPEpiC	choroid plexus:	n/a
40	chr9:136857244-136857294	HNPCEpiC	eye:	n/a
41	chr9:136856352-136856402	AG09319	gingival:	n/a
42	chr9:136858163-136858213	HRCEpiC	kidney:	n/a
43	chr9:136858680-136858730	HRPEpiC	eye:	n/a
44	chr9:136857190-136857240	SKMC	muscle:	n/a
45	chr9:136857190-136857240	PFSK-1	brain:	n/a
46	chr9:136858673-136858723	HRCEpiC	kidney:	n/a
47	chr9:136857190-136857240	H1-hESC	embryonic stem cell:	embryo
48	chr9:136858163-136858213	HRPEpiC	eye:	n/a
49	chr9:136856352-136856402	Hela-S3	cervix:	n/a
50	chr9:136856435-136856485	GM12891	blood:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
2	chr9:136591900..136594207-chr9:136858637..136860236,2	MCF-7	breast:
3	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
4	chr17:41465782..41466571-chr9:136857818..136858531,2	Hela-S3	cervix:
5	chr9:136655962..136656512-chr9:136858875..136859685,2	K562	blood:
6	chr9:136657819..136658763-chr9:136858806..136859951,5	MCF-7	breast:
7	chr17:7387387..7388059-chr9:136856964..136857786,2	Hela-S3	cervix:
8	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
9	chr9:136646919..136648935-chr9:136858713..136860466,10	MCF-7	breast:
10	chr9:136217971..136219533-chr9:136857799..136859450,2	MCF-7	breast:
11	chr17:56084236..56085114-chr9:136858119..136858641,2	Hela-S3	cervix:
12	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
13	chr9:136657412..136658751-chr9:136858523..136860164,12	K562	blood:
14	chr9:136372726..136374611-chr9:136854336..136856756,2	MCF-7	breast:
15	chr9:136647007..136648956-chr9:136858795..136860235,12	MCF-7	breast:
16	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
17	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
18	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
19	chr9:136594711..136597550-chr9:136858767..136860355,2	MCF-7	breast:
20	chr9:136657888..136659088-chr9:136857891..136858693,4	MCF-7	breast:
21	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
22	chr1:16678857..16679483-chr9:136857773..136858655,2	Hela-S3	cervix:
23	chr9:136647156..136647722-chr9:136857760..136858312,2	MCF-7	breast:
24	chr22:43010797..43011769-chr9:136856743..136857657,2	Hela-S3	cervix:
25	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
26	chr20:48329316..48329843-chr9:136855861..136856467,2	Hela-S3	cervix:
27	chr17:58677435..58680394-chr9:136857896..136860386,2	MCF-7	breast:
28	chr9:136667141..136668984-chr9:136855421..136857150,2	MCF-7	breast:
29	chr9:136856335..136860882-chr9:136888369..136892368,8	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
ENSG00000055070	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000037637	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000123453	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000270022	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566369131	chr9:136856183-136856184	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114155405	chr9:136856219-136856220	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557324206	chr9:136856227-136856228	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575668599	chr9:136856228-136856229	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543083112	chr9:136856232-136856233	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555452838	chr9:136856238-136856239	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573711983	chr9:136856255-136856256	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142442753	chr9:136856265-136856266	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559329933	chr9:136856271-136856272	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533253551	chr9:136856302-136856303	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182901464	chr9:136856306-136856307	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373566187	chr9:136856332-136856333	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534309120	chr9:136856367-136856368	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531761336	chr9:136856385-136856386	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376754246	chr9:136856538-136856539	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
16	rs370612302	chr9:136856548-136856549	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
17	rs549972937	chr9:136856553-136856554	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
18	rs568551754	chr9:136856557-136856558	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
19	rs529421468	chr9:136856558-136856559	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
20	rs547968892	chr9:136856564-136856565	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
21	rs565975384	chr9:136856577-136856578	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136854800-136856200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr9:136854800-136856200	Enhancers	Stomach Mucosa	stomach
3	chr9:136854800-136856400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr9:136855000-136856200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:136855000-136856200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:136855000-136856200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr9:136855000-136856200	Flanking Active TSS	Hela-S3	cervix
8	chr9:136855000-136856400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr9:136855000-136856400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:136855000-136856400	Flanking Active TSS	Pancreas	Pancrea
11	chr9:136855000-136856800	Flanking Active TSS	Colonic Mucosa	Colon
12	chr9:136855000-136858800	Active TSS	Rectal Smooth Muscle	rectum
13	chr9:136855200-136856200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:136855200-136856200	Flanking Active TSS	A549	lung
15	chr9:136855200-136856400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:136855200-136856400	Flanking Active TSS	Liver	Liver
17	chr9:136855200-136856400	Flanking Active TSS	HMEC	breast
18	chr9:136855200-136856400	Flanking Active TSS	NHEK	skin
19	chr9:136855200-136858800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr9:136855200-136858800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:136855200-136859000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr9:136855400-136856200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:136855400-136856400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:136855400-136856400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:136855400-136856600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr9:136855400-136858200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:136855400-136858400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:136855400-136858400	Active TSS	GM12878-XiMat	blood
29	chr9:136855600-136856200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:136855600-136856200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:136855600-136856200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr9:136855600-136856200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr9:136855600-136856200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr9:136855600-136856200	Enhancers	Left Ventricle	heart
35	chr9:136855600-136856200	Flanking Active TSS	NHDF-Ad	bronchial
36	chr9:136855600-136856400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:136855600-136856400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:136855600-136856400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr9:136855600-136856400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr9:136855600-136856400	Flanking Active TSS	HUVEC	blood vessel
41	chr9:136855600-136856600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr9:136855600-136856600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr9:136855600-136856600	Enhancers	Fetal Heart	heart
45	chr9:136855600-136856600	Flanking Active TSS	Lung	lung
46	chr9:136855600-136856600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr9:136855600-136856600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr9:136855600-136858400	Active TSS	HSMMtube	muscle
50	chr9:136855600-136859000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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