Variant report

Variant	esv3398432
Chromosome Location	chr9:117265956-117268504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:584)
CpG islands
(count:673)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:117267862-117268310	K562	blood:	n/a	n/a
2	ARID3A	chr9:117266562-117266844	K562	blood:	n/a	n/a
3	ARID3A	chr9:117267482-117267494	HepG2	liver:	n/a	n/a
4	ATF2	chr9:117267782-117268216	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr9:117267720-117267997	K562	blood:	n/a	chr9:117267821-117267830
6	BACH1	chr9:117266459-117266917	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:117268021-117268367	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr9:117266858-117266862	HepG2	liver:	n/a	n/a
9	BHLHE40	chr9:117267709-117268043	K562	blood:	n/a	chr9:117267976-117267992
10	BHLHE40	chr9:117267562-117268007	GM12878	blood:	n/a	chr9:117267976-117267992
11	BHLHE40	chr9:117266390-117267004	K562	blood:	n/a	n/a
12	BHLHE40	chr9:117267218-117267242	K562	blood:	n/a	n/a
13	BRCA1	chr9:117267704-117267954	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr9:117266320-117267262	K562	blood:	n/a	n/a
15	CBX3	chr9:117268083-117268563	K562	blood:	n/a	n/a
16	CBX3	chr9:117266581-117266867	K562	blood:	n/a	n/a
17	CCNT2	chr9:117266501-117268153	K562	blood:	n/a	chr9:117267531-117267540 chr9:117267963-117267972
18	CEBPB	chr9:117267586-117267958	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:117267710-117268145	K562	blood:	n/a	n/a
20	CEBPB	chr9:117267813-117267938	HepG2	liver:	n/a	n/a
21	CEBPB	chr9:117267567-117267913	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr9:117267560-117267665	GM12878	blood:	n/a	n/a
23	CHD1	chr9:117266901-117266912	GM12878	blood:	n/a	n/a
24	CHD2	chr9:117267119-117267296	GM12878	blood:	n/a	n/a
25	CHD2	chr9:117267477-117268084	Hela-S3	cervix:	n/a	chr9:117267819-117267829
26	CHD2	chr9:117266568-117266894	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr9:117267819-117268318	H1-hESC	embryonic stem cell:	n/a	chr9:117267819-117267829
28	CHD2	chr9:117266589-117266720	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr9:117266564-117268088	K562	blood:	n/a	chr9:117267819-117267829
30	CHD2	chr9:117266999-117267236	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr9:117266663-117266829	GM12878	blood:	n/a	n/a
32	CHD2	chr9:117267555-117268076	GM12878	blood:	n/a	chr9:117267819-117267829
33	CHD2	chr9:117267851-117267945	HepG2	liver:	n/a	n/a
34	CREB1	chr9:117267586-117268219	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr9:117267470-117268095	GM12878	blood:	n/a	n/a
36	CREB1	chr9:117267437-117268153	HepG2	liver:	n/a	n/a
37	CREB1	chr9:117267602-117268101	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr9:117267709-117268034	A549	lung:	n/a	n/a
39	CREB1	chr9:117267550-117268174	GM12878	blood:	n/a	n/a
40	CREB1	chr9:117267642-117268185	K562	blood:	n/a	n/a
41	CREB1	chr9:117267296-117268069	A549	lung:	n/a	n/a
42	CREB1	chr9:117267579-117268248	K562	blood:	n/a	n/a
43	CREB1	chr9:117267606-117268122	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr9:117267688-117268123	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr9:117267579-117268115	HepG2	liver:	n/a	n/a
46	CTCF	chr9:117266660-117266810	GM12868	blood:	n/a	n/a
47	CTCF	chr9:117266480-117266630	BE2_C	brain:	n/a	n/a
48	CTCF	chr9:117266655-117266800	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr9:117266640-117266790	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr9:117266401-117266966	MCF-7	breast:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117267571-117267621	AG04449	skin:	fetal
2	chr9:117265998-117266048	HRPEpiC	eye:	n/a
3	chr9:117267571-117267621	AG04449	skin:	fetal
4	chr9:117265998-117266048	HRPEpiC	eye:	n/a
5	chr9:117268172-117268222	NHDF-neo	bronchial:	n/a
6	chr9:117267672-117267722	AG09309	skin:	n/a
7	chr9:117266029-117266079	AG04449	skin:	fetal
8	chr9:117267571-117267621	HUVEC	blood vessel:	n/a
9	chr9:117267571-117267621	U87	brain:	n/a
10	chr9:117267571-117267621	HEK293	kidney:	embryo
11	chr9:117267672-117267722	ProgFib	skin:	n/a
12	chr9:117268172-117268222	A549	lung:	n/a
13	chr9:117267672-117267722	HEK293	kidney:	embryo
14	chr9:117267672-117267722	GM06990	blood:	n/a
15	chr9:117267392-117267442	GM12892	blood:	n/a
16	chr9:117267242-117267292	NB4	blood:	n/a
17	chr9:117267672-117267722	NB4	blood:	n/a
18	chr9:117266580-117266630	RPTEC	kidney:	n/a
19	chr9:117266918-117266968	MCF-7	breast:	n/a
20	chr9:117267242-117267292	AG04450	lung:	fetal
21	chr9:117267460-117267510	GM12892	blood:	n/a
22	chr9:117267672-117267722	AG04449	skin:	fetal
23	chr9:117267242-117267292	A549	lung:	n/a
24	chr9:117267460-117267510	HAEpiC	amniotic membrane:	n/a
25	chr9:117267571-117267621	PANC-1	pancreas:	n/a
26	chr9:117267460-117267510	LNCaP	prostate:	n/a
27	chr9:117267571-117267621	GM12892	blood:	n/a
28	chr9:117266918-117266968	PrEC	prostate:	n/a
29	chr9:117266918-117266968	MCF10A-Er-Src	breast:	n/a
30	chr9:117267460-117267510	GM12891	blood:	n/a
31	chr9:117268044-117268094	SK-N-SH_RA	brain:	n/a
32	chr9:117267392-117267442	LNCaP	prostate:	n/a
33	chr9:117266580-117266630	ECC-1	luminal epithelium:	n/a
34	chr9:117266918-117266968	AG04450	lung:	fetal
35	chr9:117266029-117266079	PANC-1	pancreas:	n/a
36	chr9:117267460-117267510	HNPCEpiC	eye:	n/a
37	chr9:117267392-117267442	SK-N-SH	brain:	n/a
38	chr9:117266918-117266968	SK-N-MC	brain:	n/a
39	chr9:117266029-117266079	AG09309	skin:	n/a
40	chr9:117265998-117266048	ECC-1	luminal epithelium:	n/a
41	chr9:117268044-117268094	HEEpiC	esophagus:	n/a
42	chr9:117267460-117267510	Jurkat	blood:	n/a
43	chr9:117268044-117268094	HEK293	kidney:	embryo
44	chr9:117267460-117267510	AG09319	gingival:	n/a
45	chr9:117267672-117267722	PANC-1	pancreas:	n/a
46	chr9:117268044-117268094	NH-A	brain:	n/a
47	chr9:117267460-117267510	K562	blood:	n/a
48	chr9:117267460-117267510	GM06990	blood:	n/a
49	chr9:117266918-117266968	HepG2	liver:	n/a
50	chr9:117268172-117268222	MCF10A-Er-Src	breast:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117265762..117270088-chr9:117348229..117352933,7	K562	blood:
2	chr9:117264854..117270088-chr9:117348300..117353117,7	K562	blood:
3	chr9:117267834..117270703-chr9:117341838..117344791,2	MCF-7	breast:
4	chr16:2033977..2034695-chr9:117267865..117268439,2	Hela-S3	cervix:
5	chr9:117264226..117271307-chr9:117346303..117355535,28	MCF-7	breast:
6	chr9:117263014..117265983-chr9:117266031..117267744,5	MCF-7	breast:
7	chr9:117268041..117272317-chr9:117272688..117278380,7	K562	blood:
8	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
9	chr12:10548044..10548696-chr9:117267865..117268396,2	Hela-S3	cervix:
10	chr9:117159319..117161244-chr9:117264260..117266190,2	MCF-7	breast:
11	chr9:117264990..117269271-chr9:117348762..117354798,9	MCF-7	breast:
12	chr9:117268190..117270565-chr9:117371736..117374593,3	MCF-7	breast:
13	chr9:117263014..117265983-chr9:117266031..117267744,5	MCF-7	breast:
14	chr9:117263501..117265677-chr9:117266069..117268440,2	K562	blood:
15	chr9:117267809..117269324-chr9:117271154..117272684,2	K562	blood:
16	chr9:117157540..117162429-chr9:117265948..117270229,5	K562	blood:
17	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
18	chr9:117160090..117161808-chr9:117267255..117268992,2	MCF-7	breast:
19	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
20	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
21	chr9:117251818..117256354-chr9:117261161..117269778,10	MCF-7	breast:

No data

Variant related genes	Relation type
DFNB31	TF binding region
DFNB31	CpG island
ENSG00000271214	chromatin interactions
ENSG00000157693	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000201749	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000235119	chromatin interactions
ENSG00000095397	chromatin interactions
ENSG00000136888	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536012301	chr9:117265980-117265981	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs556045218	chr9:117266009-117266010	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs375047637	chr9:117266094-117266095	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs572768607	chr9:117266100-117266101	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs150845016	chr9:117266123-117266124	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs557713735	chr9:117266159-117266160	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs577537708	chr9:117266180-117266181	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs138058078	chr9:117266186-117266187	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs563194524	chr9:117266256-117266257	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs180850196	chr9:117266266-117266267	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs576989121	chr9:117266283-117266284	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs542408065	chr9:117266301-117266302	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs559160816	chr9:117266316-117266317	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs74410998	chr9:117266336-117266337	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs35122928	chr9:117266338-117266339	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs565204431	chr9:117266339-117266340	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs75469999	chr9:117266340-117266341	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs5900094	chr9:117266352-117266353	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs370779546	chr9:117266354-117266355	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs528351069	chr9:117266427-117266428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs199879730	chr9:117266447-117266448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs551412674	chr9:117266476-117266477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs377053825	chr9:117266490-117266491	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs565202482	chr9:117266497-117266498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs147477922	chr9:117266533-117266534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs370018667	chr9:117266584-117266585	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs533137024	chr9:117266589-117266590	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs149612569	chr9:117266595-117266596	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs550154172	chr9:117266607-117266608	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs372965420	chr9:117266668-117266669	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs41297175	chr9:117266673-117266674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs186148643	chr9:117266692-117266693	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs549584611	chr9:117266720-117266721	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs375863898	chr9:117266739-117266740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs368710698	chr9:117266740-117266741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs200383991	chr9:117266742-117266743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs572312301	chr9:117266754-117266755	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs137852840	chr9:117266775-117266776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs367939235	chr9:117266784-117266785	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs41297173	chr9:117266788-117266789	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs372046806	chr9:117266827-117266828	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs112103392	chr9:117266843-117266844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs148785227	chr9:117266848-117266849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs56204273	chr9:117266853-117266854	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371666134	chr9:117266859-117266860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs374078599	chr9:117266866-117266867	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs146655362	chr9:117266891-117266892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs578204125	chr9:117266911-117266912	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs376376335	chr9:117266914-117266915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs201025266	chr9:117266926-117266927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	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	chr9:117240000-117266600	Weak transcription	Gastric	stomach
2	chr9:117245000-117266600	Weak transcription	Right Atrium	heart
3	chr9:117247600-117266400	Weak transcription	Esophagus	oesophagus
4	chr9:117254200-117266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:117259800-117267200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:117263000-117266000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:117263200-117266400	Weak transcription	Spleen	Spleen
8	chr9:117263600-117267000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:117263600-117268400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr9:117263800-117266800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr9:117263800-117267000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:117264000-117266400	Enhancers	Fetal Intestine Large	intestine
13	chr9:117264000-117266400	Flanking Active TSS	Hela-S3	cervix
14	chr9:117264000-117266800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:117264200-117266200	Enhancers	Fetal Lung	lung
16	chr9:117264200-117266600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:117264200-117266600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr9:117264200-117268200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:117264200-117268400	Active TSS	Brain Angular Gyrus	brain
20	chr9:117264400-117266000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr9:117264400-117266400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:117264400-117266400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:117264400-117266400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:117264400-117266600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:117264400-117266800	Flanking Active TSS	K562	blood
26	chr9:117264600-117266000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:117264600-117266000	Enhancers	Adipose Nuclei	Adipose
28	chr9:117264600-117266000	Enhancers	Fetal Intestine Small	intestine
29	chr9:117264600-117266000	Enhancers	NHEK	skin
30	chr9:117264600-117266200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:117264600-117266200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:117264600-117266400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:117264600-117266600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:117264600-117268200	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:117264600-117268400	Active TSS	Brain Substantia Nigra	brain
36	chr9:117264600-117268600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr9:117264800-117266200	Enhancers	NH-A	brain
38	chr9:117264800-117266400	Weak transcription	Colonic Mucosa	Colon
39	chr9:117265000-117266000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr9:117265000-117266000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr9:117265000-117266400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:117265000-117266400	Weak transcription	HSMMtube	muscle
43	chr9:117265000-117266600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:117265000-117266800	Flanking Active TSS	Thymus	Thymus
45	chr9:117265000-117267000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr9:117265200-117266000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr9:117265200-117266200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:117265200-117266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:117265200-117267000	Weak transcription	Small Intestine	intestine
50	chr9:117265200-117267000	Flanking Active TSS	HepG2	liver

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