Variant report

Variant	nsv615744
Chromosome Location	chr9:136843974-136865879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1692)
CpG islands
(count:981)
Chromatin interactive
region (count:76)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1692 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:136856048-136856079	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:136859562-136859782	HepG2	liver:	n/a	n/a
3	BACH1	chr9:136856855-136856872	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:136857281-136858367	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:136858165-136858241	K562	blood:	n/a	n/a
6	BACH1	chr9:136856324-136856351	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr9:136857966-136858629	A549	lung:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
8	BCL3	chr9:136857104-136857688	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857667-136857680 chr9:136857587-136857600
9	BCLAF1	chr9:136857182-136857925	GM12878	blood:	n/a	chr9:136857527-136857540 chr9:136857722-136857735 chr9:136857667-136857680 chr9:136857587-136857600 chr9:136857703-136857716
10	BCLAF1	chr9:136857949-136858391	GM12878	blood:	n/a	chr9:136858041-136858050 chr9:136858023-136858032 chr9:136858029-136858038
11	BHLHE40	chr9:136857238-136857657	HepG2	liver:	n/a	n/a
12	BHLHE40	chr9:136856410-136856656	GM12878	blood:	n/a	n/a
13	BHLHE40	chr9:136859506-136859800	K562	blood:	n/a	n/a
14	BHLHE40	chr9:136857175-136857795	GM12878	blood:	n/a	chr9:136857723-136857739
15	BHLHE40	chr9:136843682-136844132	HepG2	liver:	n/a	chr9:136843822-136843838
16	BHLHE40	chr9:136857536-136857643	K562	blood:	n/a	n/a
17	BHLHE40	chr9:136858022-136858718	GM12878	blood:	n/a	chr9:136858292-136858308
18	BHLHE40	chr9:136859537-136859868	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:136858375-136858412	K562	blood:	n/a	n/a
20	BRCA1	chr9:136857229-136857386	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr9:136859571-136859661	HepG2	liver:	n/a	n/a
22	BRCA1	chr9:136859697-136859701	GM12878	blood:	n/a	n/a
23	BRCA1	chr9:136856472-136856482	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr9:136858624-136858795	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr9:136859495-136859859	Hela-S3	cervix:	n/a	n/a
26	CCNT2	chr9:136857387-136858522	K562	blood:	n/a	chr9:136858030-136858039 chr9:136858444-136858453
27	CEBPB	chr9:136843611-136844062	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
28	CEBPB	chr9:136859569-136859830	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr9:136843621-136844071	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
30	CEBPB	chr9:136858693-136858716	K562	blood:	n/a	n/a
31	CEBPB	chr9:136856052-136856100	HepG2	liver:	n/a	n/a
32	CEBPB	chr9:136856519-136856548	HepG2	liver:	n/a	n/a
33	CEBPB	chr9:136856033-136856632	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr9:136859558-136859784	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr9:136843653-136843978	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
36	CEBPB	chr9:136858552-136858776	HepG2	liver:	n/a	n/a
37	CEBPB	chr9:136862116-136862444	IMR90	lung:	n/a	chr9:136862275-136862286
38	CEBPB	chr9:136864401-136864645	IMR90	lung:	n/a	chr9:136864525-136864536
39	CEBPB	chr9:136852347-136852415	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:136857190-136857515	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr9:136862155-136862420	Hela-S3	cervix:	n/a	chr9:136862275-136862286
42	CEBPB	chr9:136843621-136844011	HepG2	liver:	n/a	chr9:136843812-136843823 chr9:136843810-136843823 chr9:136843812-136843823 chr9:136843810-136843821
43	CEBPB	chr9:136858000-136858845	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr9:136862197-136862411	HepG2	liver:	n/a	chr9:136862275-136862286
45	CEBPB	chr9:136858175-136858310	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPD	chr9:136843655-136844044	HepG2	liver:	n/a	n/a
47	CEBPD	chr9:136843670-136843997	HepG2	liver:	n/a	n/a
48	CEBPD	chr9:136858491-136858779	HepG2	liver:	n/a	n/a
49	CEBPD	chr9:136857224-136858245	HepG2	liver:	n/a	n/a
50	CHD1	chr9:136859440-136860013	IMR90	lung:	n/a	n/a

(count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136857190-136857240	LNCaP	prostate:	n/a
2	chr9:136856352-136856402	HEEpiC	esophagus:	n/a
3	chr9:136858673-136858723	HCT-116	colon:	n/a
4	chr9:136845816-136845866	GM19239	blood:	n/a
5	chr9:136845816-136845866	HCM	heart:	n/a
6	chr9:136857190-136857240	LNCaP	prostate:	n/a
7	chr9:136856352-136856402	HEEpiC	esophagus:	n/a
8	chr9:136858673-136858723	HCT-116	colon:	n/a
9	chr9:136845816-136845866	GM19239	blood:	n/a
10	chr9:136845816-136845866	HCM	heart:	n/a
11	chr9:136858680-136858730	SK-N-SH_RA	brain:	n/a
12	chr9:136858163-136858213	H1-hESC	embryonic stem cell:	embryo
13	chr9:136857190-136857240	HRE	kidney:	n/a
14	chr9:136861819-136861869	HEK293	kidney:	embryo
15	chr9:136844397-136844447	HRPEpiC	eye:	n/a
16	chr9:136858308-136858358	NHDF-neo	bronchial:	n/a
17	chr9:136860187-136860237	CMK	blood:	n/a
18	chr9:136844644-136844694	NHBE	bronchial:	n/a
19	chr9:136856435-136856485	HAEpiC	amniotic membrane:	n/a
20	chr9:136855902-136855952	SK-N-SH_RA	brain:	n/a
21	chr9:136858673-136858723	NT2-D1	testis:	n/a
22	chr9:136857244-136857294	HEEpiC	esophagus:	n/a
23	chr9:136856352-136856402	LNCaP	prostate:	n/a
24	chr9:136861819-136861869	LNCaP	prostate:	n/a
25	chr9:136844768-136844818	SK-N-SH	brain:	n/a
26	chr9:136844644-136844694	BE2_C	brain:	n/a
27	chr9:136860187-136860237	H1-hESC	embryonic stem cell:	embryo
28	chr9:136856435-136856485	Hela-S3	cervix:	n/a
29	chr9:136844644-136844694	HEK293	kidney:	embryo
30	chr9:136858163-136858213	HCT-116	colon:	n/a
31	chr9:136856352-136856402	AoSMC	blood vessel:	n/a
32	chr9:136856435-136856485	PANC-1	pancreas:	n/a
33	chr9:136858680-136858730	AG04450	lung:	fetal
34	chr9:136847709-136847759	AG04450	lung:	fetal
35	chr9:136857244-136857294	HMEC	breast:	n/a
36	chr9:136844768-136844818	A549	lung:	n/a
37	chr9:136844644-136844694	GM12892	blood:	n/a
38	chr9:136855902-136855952	GM06990	blood:	n/a
39	chr9:136858673-136858723	HRPEpiC	eye:	n/a
40	chr9:136858680-136858730	NH-A	brain:	n/a
41	chr9:136856352-136856402	H1-hESC	embryonic stem cell:	embryo
42	chr9:136856435-136856485	A549	lung:	n/a
43	chr9:136858680-136858730	HEEpiC	esophagus:	n/a
44	chr9:136858308-136858358	HRCEpiC	kidney:	n/a
45	chr9:136861819-136861869	GM19239	blood:	n/a
46	chr9:136857244-136857294	ECC-1	luminal epithelium:	n/a
47	chr9:136844644-136844694	HCM	heart:	n/a
48	chr9:136844397-136844447	HAEpiC	amniotic membrane:	n/a
49	chr9:136860187-136860237	SK-N-SH_RA	brain:	n/a
50	chr9:136845816-136845866	Hela-S3	cervix:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:136657412..136658751-chr9:136858523..136860164,12	K562	blood:
2	chr9:136607693..136608878-chr9:136859235..136860612,8	MCF-7	breast:
3	chr9:136859325..136860777-chr9:136964002..136965283,7	MCF-7	breast:
4	chr9:136856689..136859629-chr9:136860948..136863697,2	K562	blood:
5	chr9:136656846..136660173-chr9:136849456..136851758,3	MCF-7	breast:
6	chr9:136856335..136860882-chr9:136888369..136892368,8	MCF-7	breast:
7	chr9:136856397..136858189-chr9:136860981..136863697,2	K562	blood:
8	chr9:136739328..136742123-chr9:136841796..136845434,3	MCF-7	breast:
9	chr9:136655962..136656512-chr9:136858875..136859685,2	K562	blood:
10	chr9:136646919..136648935-chr9:136858713..136860466,10	MCF-7	breast:
11	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
12	chr9:136844757..136847399-chr9:136850001..136852495,3	MCF-7	breast:
13	chr9:136607827..136608773-chr9:136859602..136860351,4	MCF-7	breast:
14	chr9:136657265..136659232-chr9:136854243..136855846,2	K562	blood:
15	chr9:136839997..136844319-chr9:136851053..136854251,5	MCF-7	breast:
16	chr9:136815020..136816601-chr9:136860068..136862429,2	MCF-7	breast:
17	chr9:136592463..136593107-chr9:136859236..136860141,3	MCF-7	breast:
18	chr9:136839997..136844319-chr9:136851053..136854251,5	MCF-7	breast:
19	chr9:136738035..136740400-chr9:136850110..136852807,2	MCF-7	breast:
20	chr9:136821904..136824368-chr9:136852633..136855112,2	MCF-7	breast:
21	chr9:136657511..136659120-chr9:136859180..136860603,16	MCF-7	breast:
22	chr9:136790195..136791923-chr9:136853934..136856006,2	MCF-7	breast:
23	chr9:136849949..136852879-chr9:136857069..136859221,2	K562	blood:
24	chr9:136862110..136863707-chr9:136863725..136867446,4	MCF-7	breast:
25	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
26	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
27	chr9:136594711..136597550-chr9:136858767..136860355,2	MCF-7	breast:
28	chr7:26239812..26240720-chr9:136846541..136847167,2	Hela-S3	cervix:
29	chr9:136657344..136658870-chr9:136843564..136845093,2	K562	blood:
30	chr9:136372726..136374611-chr9:136854336..136856756,2	MCF-7	breast:
31	chr9:136647156..136647722-chr9:136857760..136858312,2	MCF-7	breast:
32	chr9:136662303..136663068-chr9:136859673..136860648,2	MCF-7	breast:
33	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
34	chr1:16678857..16679483-chr9:136857773..136858655,2	Hela-S3	cervix:
35	chr17:41465782..41466571-chr9:136857818..136858531,2	Hela-S3	cervix:
36	chr9:136683788..136685445-chr9:136846019..136848764,2	MCF-7	breast:
37	chr9:136827453..136828973-chr9:136850064..136852455,2	MCF-7	breast:
38	chr9:136840615..136846826-chr9:136854892..136859021,10	MCF-7	breast:
39	chr9:136647007..136648956-chr9:136858795..136860235,12	MCF-7	breast:
40	chr9:136746415..136748463-chr9:136851208..136853267,2	MCF-7	breast:
41	chr9:136591900..136594207-chr9:136858637..136860236,2	MCF-7	breast:
42	chr9:136657888..136659088-chr9:136857891..136858693,4	MCF-7	breast:
43	chr9:136679694..136681677-chr9:136851207..136853977,2	MCF-7	breast:
44	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
45	chr9:136655644..136657543-chr9:136859054..136861724,2	K562	blood:
46	chr9:136859431..136860674-chr9:136964030..136964900,5	MCF-7	breast:
47	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
48	chr17:56084236..56085114-chr9:136858119..136858641,2	Hela-S3	cervix:
49	chr9:136704214..136705885-chr9:136852760..136855283,2	MCF-7	breast:
50	chr9:136855194..136860597-chr9:136929703..136933650,7	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
ENSG00000160293	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000123453	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000055070	chromatin interactions
ENSG00000037637	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 949 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs425850	chr9:136843974-136843975	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542757156	chr9:136844005-136844006	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78686769	chr9:136844029-136844030	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71503367	chr9:136844041-136844042	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376593545	chr9:136844042-136844043	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565603812	chr9:136844055-136844056	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57185978	chr9:136844086-136844087	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531108012	chr9:136844099-136844100	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191630443	chr9:136844188-136844189	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544425086	chr9:136844189-136844190	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34442529	chr9:136844203-136844204	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563087609	chr9:136844216-136844217	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116193094	chr9:136844224-136844225	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548874864	chr9:136844230-136844231	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567250134	chr9:136844257-136844258	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184491990	chr9:136844264-136844265	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527244603	chr9:136844304-136844305	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138843617	chr9:136844309-136844310	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537946003	chr9:136844322-136844323	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549651592	chr9:136844323-136844324	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568230109	chr9:136844354-136844355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546389383	chr9:136844398-136844399	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141737749	chr9:136844411-136844412	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572017130	chr9:136844429-136844430	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533886370	chr9:136844432-136844433	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558906970	chr9:136844464-136844465	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548802127	chr9:136844484-136844485	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577208165	chr9:136844493-136844494	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544674922	chr9:136844501-136844502	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571473665	chr9:136844515-136844516	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566430697	chr9:136844520-136844521	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575056916	chr9:136844546-136844547	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146561994	chr9:136844554-136844555	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188863406	chr9:136844559-136844560	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs379485	chr9:136844563-136844564	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533671681	chr9:136844575-136844576	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182000217	chr9:136844596-136844597	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138672076	chr9:136844605-136844606	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554171775	chr9:136844628-136844629	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs419240	chr9:136844633-136844634	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549826224	chr9:136844634-136844635	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567838042	chr9:136844635-136844636	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73662359	chr9:136844637-136844638	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547191898	chr9:136844638-136844639	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371689811	chr9:136844639-136844640	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75472430	chr9:136844643-136844644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553808881	chr9:136844645-136844646	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554296473	chr9:136844668-136844669	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573589583	chr9:136844715-136844716	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149320475	chr9:136844721-136844722	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 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:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136832800-136844200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:136835200-136848600	Enhancers	Fetal Intestine Large	intestine
3	chr9:136835400-136848800	Genic enhancers	Fetal Intestine Small	intestine
4	chr9:136835800-136854800	Weak transcription	A549	lung
5	chr9:136836800-136844000	Weak transcription	NHDF-Ad	bronchial
6	chr9:136837400-136851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:136837400-136854800	Weak transcription	HMEC	breast
8	chr9:136837600-136845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:136837600-136845000	Weak transcription	Fetal Kidney	kidney
10	chr9:136837800-136844000	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:136837800-136850600	Weak transcription	NHEK	skin
12	chr9:136838000-136854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:136839000-136844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:136839000-136844000	Weak transcription	Esophagus	oesophagus
15	chr9:136839000-136844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:136839000-136844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:136839600-136844000	Weak transcription	Left Ventricle	heart
18	chr9:136839600-136844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:136839600-136844200	Weak transcription	Brain Anterior Caudate	brain
20	chr9:136839600-136844800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:136839800-136844000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:136839800-136844000	Weak transcription	Gastric	stomach
23	chr9:136839800-136844200	Weak transcription	Fetal Brain Female	brain
24	chr9:136839800-136844200	Weak transcription	HUVEC	blood vessel
25	chr9:136840000-136854800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:136840200-136844000	Weak transcription	Right Atrium	heart
27	chr9:136840200-136844600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:136840200-136845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:136840400-136854800	Weak transcription	Hela-S3	cervix
30	chr9:136840800-136844200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:136840800-136852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:136841400-136844000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:136841600-136846000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:136841800-136844600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:136842000-136844400	Enhancers	Duodenum Mucosa	Duodenum
36	chr9:136842000-136844400	Weak transcription	GM12878-XiMat	blood
37	chr9:136842000-136847800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:136842000-136848800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:136842200-136844000	Enhancers	Liver	Liver
40	chr9:136842400-136844000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:136842400-136844000	Weak transcription	Ovary	ovary
42	chr9:136842400-136847400	Enhancers	Lung	lung
43	chr9:136842600-136848600	Enhancers	Fetal Muscle Leg	muscle
44	chr9:136842800-136844000	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:136843000-136844000	Weak transcription	Primary B cells from cord blood	blood
46	chr9:136843000-136844200	Enhancers	Pancreas	Pancrea
47	chr9:136843000-136845800	Enhancers	Fetal Lung	lung
48	chr9:136843000-136846000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:136843000-136846200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr9:136843000-136846800	Enhancers	Spleen	Spleen

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