Variant report

Variant	esv6288
Chromosome Location	chr9:140772532-140777344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:367)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:140773050-140773062	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr9:140772955-140773232	K562	blood:	n/a	chr9:140773100-140773109
3	CCNT2	chr9:140773119-140773339	K562	blood:	n/a	chr9:140773196-140773205
4	CHD2	chr9:140773087-140773408	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr9:140773019-140773492	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:140773107-140773204	GM19238	blood:	n/a	n/a
7	CTCF	chr9:140773180-140773330	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr9:140773134-140773243	GM12891	blood:	n/a	n/a
9	CTCF	chr9:140777220-140777370	GM12871	blood:	n/a	n/a
10	CTCF	chr9:140773025-140773427	K562	blood:	n/a	n/a
11	CTCF	chr9:140773160-140773310	HEK293	kidney:	n/a	n/a
12	CTCF	chr9:140773100-140773212	GM19239	blood:	n/a	n/a
13	CTCF	chr9:140773160-140773310	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr9:140773114-140773244	K562	blood:	n/a	n/a
15	CTCF	chr9:140773060-140773403	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:140773080-140773278	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:140773040-140773190	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr9:140773079-140773266	HepG2	liver:	n/a	n/a
19	CTCF	chr9:140773080-140773230	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr9:140773026-140773329	K562	blood:	n/a	n/a
21	CTCF	chr9:140773113-140773442	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:140773080-140773230	HepG2	liver:	n/a	n/a
23	CTCF	chr9:140773100-140773250	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr9:140773160-140773310	WERI-Rb-1	eye:	n/a	n/a
25	E2F6	chr9:140772766-140773373	H1-hESC	embryonic stem cell:	n/a	chr9:140773150-140773159 chr9:140772853-140772862
26	E2F6	chr9:140772712-140773428	H1-hESC	embryonic stem cell:	n/a	chr9:140773150-140773159 chr9:140772853-140772862
27	E2F6	chr9:140773060-140773288	K562	blood:	n/a	chr9:140773150-140773159
28	ETS1	chr9:140773130-140773269	K562	blood:	n/a	chr9:140773190-140773201
29	GABPA	chr9:140772974-140773227	K562	blood:	n/a	chr9:140773146-140773160 chr9:140773149-140773163 chr9:140773151-140773160 chr9:140773061-140773072 chr9:140773058-140773072 chr9:140773149-140773160
30	GABPA	chr9:140773092-140773475	H1-hESC	embryonic stem cell:	n/a	chr9:140773146-140773160 chr9:140773149-140773163 chr9:140773151-140773160 chr9:140773149-140773160
31	HCFC1	chr9:140776729-140779375	Hela-S3	cervix:	n/a	n/a
32	HDAC2	chr9:140773117-140773354	K562	blood:	n/a	chr9:140773239-140773258
33	MAX	chr9:140772495-140773371	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr9:140772868-140773465	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr9:140772930-140773235	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr9:140773125-140773132	K562	blood:	n/a	n/a
37	MAX	chr9:140772797-140773503	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr9:140772925-140773324	K562	blood:	n/a	n/a
39	MAX	chr9:140772955-140773370	ECC-1	luminal epithelium:	n/a	n/a
40	MAZ	chr9:140773172-140773261	GM12878	blood:	n/a	n/a
41	MAZ	chr9:140773039-140773391	K562	blood:	n/a	n/a
42	MAZ	chr9:140773147-140773279	HepG2	liver:	n/a	n/a
43	MAZ	chr9:140772912-140773498	IMR90	lung:	n/a	n/a
44	MXI1	chr9:140772970-140773326	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr9:140772047-140773606	SK-N-SH	brain:	n/a	chr9:140772188-140772197
46	MYC	chr9:140773029-140773322	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr9:140772572-140772578	MCF-7	breast:	n/a	n/a
48	MYC	chr9:140773069-140773260	K562	blood:	n/a	n/a
49	MYC	chr9:140772604-140772611	MCF-7	breast:	n/a	n/a
50	NRF1	chr9:140772950-140773350	H1-hESC	embryonic stem cell:	n/a	chr9:140773146-140773160 chr9:140773149-140773163 chr9:140773151-140773160 chr9:140773061-140773072 chr9:140773058-140773072 chr9:140773149-140773160

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140773147-140773197	NB4	blood:	n/a
2	chr9:140773147-140773197	NB4	blood:	n/a
3	chr9:140775041-140775091	AG04450	lung:	fetal
4	chr9:140773147-140773197	AG04450	lung:	fetal
5	chr9:140773129-140773179	HCF	heart:	n/a
6	chr9:140773129-140773179	LNCaP	prostate:	n/a
7	chr9:140773483-140773533	AG04449	skin:	fetal
8	chr9:140773483-140773533	RPTEC	kidney:	n/a
9	chr9:140775041-140775091	AG09319	gingival:	n/a
10	chr9:140773483-140773533	MCF10A-Er-Src	breast:	n/a
11	chr9:140773129-140773179	HL-60	blood:	n/a
12	chr9:140775041-140775091	HRE	kidney:	n/a
13	chr9:140773147-140773197	AG09309	skin:	n/a
14	chr9:140773147-140773197	HRPEpiC	eye:	n/a
15	chr9:140775967-140776017	HUVEC	blood vessel:	n/a
16	chr9:140773129-140773179	HCT-116	colon:	n/a
17	chr9:140773483-140773533	AoSMC	blood vessel:	n/a
18	chr9:140772545-140772595	RPTEC	kidney:	n/a
19	chr9:140773147-140773197	AoSMC	blood vessel:	n/a
20	chr9:140773129-140773179	HEEpiC	esophagus:	n/a
21	chr9:140773129-140773179	GM12878	blood:	n/a
22	chr9:140772545-140772595	HRPEpiC	eye:	n/a
23	chr9:140772545-140772595	NH-A	brain:	n/a
24	chr9:140772545-140772595	NHBE	bronchial:	n/a
25	chr9:140775967-140776017	H1-hESC	embryonic stem cell:	embryo
26	chr9:140773483-140773533	HMEC	breast:	n/a
27	chr9:140773129-140773179	ovcar-3	ovarian:	n/a
28	chr9:140775041-140775091	SKMC	muscle:	n/a
29	chr9:140775967-140776017	K562	blood:	n/a
30	chr9:140773129-140773179	GM06990	blood:	n/a
31	chr9:140775041-140775091	NHDF-neo	bronchial:	n/a
32	chr9:140775041-140775091	NT2-D1	testis:	n/a
33	chr9:140773147-140773197	HMEC	breast:	n/a
34	chr9:140772545-140772595	AG09319	gingival:	n/a
35	chr9:140773129-140773179	Hepatocyte	liver:	n/a
36	chr9:140775967-140776017	HepG2	liver:	n/a
37	chr9:140773147-140773197	GM06990	blood:	n/a
38	chr9:140773483-140773533	CMK	blood:	n/a
39	chr9:140773129-140773179	AG10803	skin:	n/a
40	chr9:140772545-140772595	HRE	kidney:	n/a
41	chr9:140775967-140776017	HCF	heart:	n/a
42	chr9:140773129-140773179	BJ	skin:	n/a
43	chr9:140772545-140772595	MCF-7	breast:	n/a
44	chr9:140775041-140775091	AoSMC	blood vessel:	n/a
45	chr9:140773147-140773197	HIPEpiC	eye:	n/a
46	chr9:140773129-140773179	HAEpiC	amniotic membrane:	n/a
47	chr9:140775041-140775091	HCT-116	colon:	n/a
48	chr9:140775041-140775091	SK-N-MC	brain:	n/a
49	chr9:140773483-140773533	LNCaP	prostate:	n/a
50	chr9:140772545-140772595	GM06990	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140770577..140775397-chr9:140776407..140782162,11	K562	blood:
2	chr9:140775069..140778564-chr9:140787877..140791721,3	MCF-7	breast:
3	chr9:140772539..140775418-chr9:140775684..140778164,5	MCF-7	breast:
4	chr9:140770577..140775862-chr9:140777147..140782162,8	K562	blood:
5	chr9:140771023..140775053-chr9:140775846..140778577,6	MCF-7	breast:
6	chr14:100197709..100198229-chr9:140777193..140778054,2	MCF-7	breast:
7	chr9:140772539..140775418-chr9:140775684..140778164,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL772363.1-1	chr9:140777289-140777454	ENSG00000203987.2

No data

Variant related genes	Relation type
ENSG00000203987	TF binding region
ENSG00000203987	CpG island
ENSG00000148408	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201813576	chr9:140772546-140772547	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs200276036	chr9:140772547-140772548	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs201338669	chr9:140772552-140772553	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs199833027	chr9:140772563-140772564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs377621007	chr9:140772564-140772565	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs200803427	chr9:140772567-140772568	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs201591503	chr9:140772568-140772569	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs199588193	chr9:140772574-140772575	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs200515483	chr9:140772577-140772578	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs201870839	chr9:140772580-140772581	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs199731221	chr9:140772584-140772585	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs200843832	chr9:140772595-140772596	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs376286287	chr9:140772596-140772597	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201645191	chr9:140772601-140772602	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs199860587	chr9:140772607-140772608	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370377726	chr9:140772608-140772609	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139719558	chr9:140772613-140772614	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201529170	chr9:140772626-140772627	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199980579	chr9:140772650-140772651	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200781715	chr9:140772661-140772662	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201893767	chr9:140772662-140772663	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs151134606	chr9:140772669-140772670	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200491212	chr9:140772670-140772671	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201204841	chr9:140772671-140772672	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531869178	chr9:140772677-140772678	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527387589	chr9:140772704-140772705	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547139596	chr9:140772735-140772736	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11137290	chr9:140772793-140772794	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374858894	chr9:140772823-140772824	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567278511	chr9:140772829-140772830	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369254589	chr9:140772830-140772831	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532745038	chr9:140772908-140772909	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549697842	chr9:140772956-140772957	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529636150	chr9:140772961-140772962	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372765728	chr9:140773001-140773002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs535337823	chr9:140773159-140773160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs549165936	chr9:140773178-140773179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs113079953	chr9:140773209-140773210	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565696482	chr9:140773268-140773269	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112664609	chr9:140773291-140773292	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs113688899	chr9:140773309-140773310	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558258139	chr9:140773353-140773354	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375690402	chr9:140773354-140773355	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141740696	chr9:140773359-140773360	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11137291	chr9:140773362-140773363	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs117085575	chr9:140773366-140773367	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574276127	chr9:140773368-140773369	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377680096	chr9:140773372-140773373	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs183827808	chr9:140773377-140773378	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559910216	chr9:140773413-140773414	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:19)

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

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140771400-140773000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:140771600-140772800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr9:140771600-140772800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:140771600-140773000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr9:140771600-140773000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr9:140771600-140773000	Bivalent Enhancer	Lung	lung
7	chr9:140771600-140773800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr9:140771600-140773800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr9:140771600-140773800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:140771800-140772600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:140771800-140772800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:140771800-140772800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr9:140771800-140772800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:140771800-140773200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr9:140771800-140773400	Active TSS	Brain Angular Gyrus	brain
16	chr9:140771800-140773400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:140771800-140773800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:140771800-140773800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:140772000-140772600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:140772000-140772600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:140772000-140772800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
22	chr9:140772000-140772800	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr9:140772000-140772800	Active TSS	Right Atrium	heart
24	chr9:140772000-140773200	Active TSS	HSMM	muscle
25	chr9:140772200-140772600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:140772200-140772800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:140772200-140772800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
28	chr9:140772200-140772800	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr9:140772200-140772800	Enhancers	Pancreas	Pancrea
30	chr9:140772200-140773000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:140772200-140773000	Bivalent Enhancer	Small Intestine	intestine
32	chr9:140772200-140773000	Bivalent Enhancer	Spleen	Spleen
33	chr9:140772200-140773000	Bivalent/Poised TSS	HUVEC	blood vessel
34	chr9:140772200-140773200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:140772200-140773200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:140772200-140773200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:140772200-140773400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
38	chr9:140772200-140773600	Bivalent Enhancer	Esophagus	oesophagus
39	chr9:140772200-140773600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr9:140772200-140773800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:140772200-140773800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:140772400-140772600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:140772400-140772600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr9:140772400-140772800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr9:140772400-140772800	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:140772400-140772800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:140772400-140772800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr9:140772400-140772800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr9:140772400-140773000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:140772400-140773000	Enhancers	Liver	Liver

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