Variant report

Variant	esv3373120
Chromosome Location	chr9:117372756-117375304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:636)
CpG islands
(count:428)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:117373583-117373654	HepG2	liver:	n/a	n/a
2	ATF2	chr9:117373898-117374510	GM12878	blood:	n/a	n/a
3	BCL3	chr9:117373830-117374180	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
4	BCLAF1	chr9:117373122-117373674	GM12878	blood:	n/a	chr9:117373594-117373607 chr9:117373598-117373611 chr9:117373594-117373603
5	BCLAF1	chr9:117373772-117374425	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
6	BCLAF1	chr9:117373923-117374715	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
7	BCLAF1	chr9:117373285-117373743	GM12878	blood:	n/a	chr9:117373717-117373730 chr9:117373594-117373607 chr9:117373598-117373611 chr9:117373712-117373725 chr9:117373594-117373603 chr9:117373713-117373726
8	BHLHE40	chr9:117373353-117373674	HepG2	liver:	n/a	n/a
9	BHLHE40	chr9:117373914-117374712	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:117375191-117375752	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:117373469-117373598	A549	lung:	n/a	n/a
12	BHLHE40	chr9:117373917-117374588	K562	blood:	n/a	n/a
13	BHLHE40	chr9:117372874-117373703	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:117372960-117373706	K562	blood:	n/a	n/a
15	BRCA1	chr9:117374064-117374371	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr9:117374239-117374264	GM12878	blood:	n/a	n/a
17	BRCA1	chr9:117373440-117373601	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr9:117373089-117373647	K562	blood:	n/a	n/a
19	CBX3	chr9:117373830-117374398	K562	blood:	n/a	n/a
20	CBX3	chr9:117372635-117373642	K562	blood:	n/a	n/a
21	CCNT2	chr9:117373308-117374252	K562	blood:	n/a	chr9:117374019-117374028
22	CEBPB	chr9:117373310-117373726	K562	blood:	n/a	n/a
23	CEBPB	chr9:117374297-117374687	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr9:117373345-117373756	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr9:117374317-117374731	A549	lung:	n/a	n/a
26	CEBPB	chr9:117373472-117373579	HepG2	liver:	n/a	n/a
27	CEBPB	chr9:117374320-117375088	HepG2	liver:	n/a	chr9:117374771-117374784
28	CEBPB	chr9:117374293-117374752	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr9:117374229-117374807	MCF-7	breast:	n/a	chr9:117374771-117374784
30	CEBPB	chr9:117374340-117374629	K562	blood:	n/a	n/a
31	CEBPB	chr9:117374279-117374751	K562	blood:	n/a	n/a
32	CEBPB	chr9:117374267-117374744	A549	lung:	n/a	n/a
33	CEBPB	chr9:117373969-117374855	Hela-S3	cervix:	n/a	chr9:117374771-117374784
34	CEBPB	chr9:117375002-117375906	GM12878	blood:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
35	CEBPB	chr9:117374330-117374709	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr9:117374105-117374734	IMR90	lung:	n/a	n/a
37	CEBPB	chr9:117374331-117374628	HepG2	liver:	n/a	n/a
38	CEBPB	chr9:117374356-117374611	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:117372951-117373578	GM12878	blood:	n/a	n/a
40	CEBPB	chr9:117374116-117374893	A549	lung:	n/a	chr9:117374771-117374784
41	CEBPB	chr9:117374119-117374760	K562	blood:	n/a	n/a
42	CEBPB	chr9:117373364-117373639	K562	blood:	n/a	n/a
43	CEBPB	chr9:117374322-117374691	HepG2	liver:	n/a	n/a
44	CEBPB	chr9:117373389-117373667	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPD	chr9:117374363-117374703	HepG2	liver:	n/a	n/a
46	CEBPD	chr9:117374421-117374657	HepG2	liver:	n/a	n/a
47	CHD1	chr9:117374921-117376023	GM12878	blood:	n/a	n/a
48	CHD1	chr9:117372666-117375307	IMR90	lung:	n/a	n/a
49	CHD1	chr9:117372571-117374659	GM12878	blood:	n/a	n/a
50	CHD2	chr9:117372765-117373668	GM12878	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117373485-117373535	HAEpiC	amniotic membrane:	n/a
2	chr9:117373485-117373535	HAEpiC	amniotic membrane:	n/a
3	chr9:117374308-117374358	AG09319	gingival:	n/a
4	chr9:117373485-117373535	U87	brain:	n/a
5	chr9:117374170-117374220	GM12891	blood:	n/a
6	chr9:117373517-117373567	PFSK-1	brain:	n/a
7	chr9:117374075-117374125	HL-60	blood:	n/a
8	chr9:117373485-117373535	HPAEpiC	pulmonary alveolar:	n/a
9	chr9:117373239-117373289	HCM	heart:	n/a
10	chr9:117374308-117374358	AG09309	skin:	n/a
11	chr9:117373239-117373289	HepG2	liver:	n/a
12	chr9:117374308-117374358	HUVEC	blood vessel:	n/a
13	chr9:117374308-117374358	GM12891	blood:	n/a
14	chr9:117373485-117373535	NHDF-neo	bronchial:	n/a
15	chr9:117373239-117373289	HCF	heart:	n/a
16	chr9:117374075-117374125	GM06990	blood:	n/a
17	chr9:117373517-117373567	NHDF-neo	bronchial:	n/a
18	chr9:117373239-117373289	Caco-2	colon:	n/a
19	chr9:117373485-117373535	AG09309	skin:	n/a
20	chr9:117374075-117374125	HCF	heart:	n/a
21	chr9:117373239-117373289	AG04449	skin:	fetal
22	chr9:117374075-117374125	HepG2	liver:	n/a
23	chr9:117374075-117374125	AG04449	skin:	fetal
24	chr9:117373239-117373289	IMR90	lung:	fetal
25	chr9:117374170-117374220	AG04450	lung:	fetal
26	chr9:117374308-117374358	NB4	blood:	n/a
27	chr9:117372723-117372773	HCF	heart:	n/a
28	chr9:117373517-117373567	Hela-S3	cervix:	n/a
29	chr9:117374308-117374358	ECC-1	luminal epithelium:	n/a
30	chr9:117374075-117374125	SKMC	muscle:	n/a
31	chr9:117374075-117374125	HCT-116	colon:	n/a
32	chr9:117374170-117374220	GM19239	blood:	n/a
33	chr9:117372723-117372773	PrEC	prostate:	n/a
34	chr9:117373485-117373535	HMEC	breast:	n/a
35	chr9:117374075-117374125	Hepatocyte	liver:	n/a
36	chr9:117372723-117372773	NHBE	bronchial:	n/a
37	chr9:117374308-117374358	HPAEpiC	pulmonary alveolar:	n/a
38	chr9:117373517-117373567	Jurkat	blood:	n/a
39	chr9:117373485-117373535	PANC-1	pancreas:	n/a
40	chr9:117374170-117374220	HL-60	blood:	n/a
41	chr9:117373517-117373567	HEEpiC	esophagus:	n/a
42	chr9:117374075-117374125	NB4	blood:	n/a
43	chr9:117373485-117373535	HNPCEpiC	eye:	n/a
44	chr9:117373239-117373289	AoSMC	blood vessel:	n/a
45	chr9:117374170-117374220	SKMC	muscle:	n/a
46	chr9:117374075-117374125	GM12891	blood:	n/a
47	chr9:117373239-117373289	GM12878	blood:	n/a
48	chr9:117373517-117373567	GM12891	blood:	n/a
49	chr9:117373517-117373567	HCM	heart:	n/a
50	chr9:117372723-117372773	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:31795413..31795934-chr9:117373017..117374000,2	Hela-S3	cervix:
2	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
3	chr9:117250118..117252252-chr9:117374718..117376331,2	MCF-7	breast:
4	chr9:117291759..117293963-chr9:117373811..117375856,2	K562	blood:
5	chr9:117373836..117375707-chr9:117400853..117402924,2	MCF-7	breast:
6	chr9:117301959..117303545-chr9:117375054..117376572,2	MCF-7	breast:
7	chr9:117248554..117250072-chr9:117374914..117376570,2	MCF-7	breast:
8	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:
9	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
10	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
11	chr9:117374384..117377233-chr9:117400977..117403274,2	K562	blood:
12	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
13	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
14	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
15	chr9:117349813..117350410-chr9:117373358..117373966,2	MCF-7	breast:
16	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
17	chr9:117349294..117352043-chr9:117375229..117380114,4	MCF-7	breast:
18	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
19	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
20	chr9:117189063..117191201-chr9:117373805..117375386,2	K562	blood:
21	chr9:117373263..117374203-chr9:130186181..130186719,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G1-2	chr9:117374792-117377101	NONHSAT134388

No data

Variant related genes	Relation type
ENSG00000272241	TF binding region
C9orf91	TF binding region
ENSG00000272241	CpG island
C9orf91	CpG island
ENSG00000196152	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000095397	chromatin interactions
ENSG00000201749	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000157693	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34329091	chr9:117372880-117372881	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs540500982	chr9:117372904-117372905	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs35584447	chr9:117372975-117372976	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs34991784	chr9:117372977-117372978	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs62578856	chr9:117373027-117373028	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561264288	chr9:117373102-117373103	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs537746310	chr9:117373113-117373114	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs369891548	chr9:117373115-117373116	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs142641906	chr9:117373136-117373137	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs553198761	chr9:117373149-117373150	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs559990310	chr9:117373183-117373184	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs532274449	chr9:117373189-117373190	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs180934322	chr9:117373239-117373240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs569026368	chr9:117373259-117373260	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs145952462	chr9:117373322-117373323	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs186171069	chr9:117373349-117373350	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs139807004	chr9:117373414-117373415	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs568397162	chr9:117373455-117373456	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs536227676	chr9:117373468-117373469	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs111320077	chr9:117373584-117373585	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs572595534	chr9:117373604-117373605	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs79385312	chr9:117373607-117373608	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs566839615	chr9:117373624-117373625	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs539079266	chr9:117373649-117373650	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs558808966	chr9:117373675-117373676	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs373041290	chr9:117373724-117373725	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs544439024	chr9:117373789-117373790	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs36113264	chr9:117373813-117373814	Bivalent/Poised TSS Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs191026098	chr9:117373830-117373831	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs3035396	chr9:117373838-117373839	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs554821765	chr9:117373860-117373861	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs574841881	chr9:117373869-117373870	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs539838225	chr9:117373887-117373888	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs560054074	chr9:117373918-117373919	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs562592433	chr9:117373949-117373950	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs545855330	chr9:117373970-117373971	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs562585369	chr9:117373971-117373972	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs531517288	chr9:117373977-117373978	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs36123077	chr9:117373990-117373991	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs35294871	chr9:117374002-117374003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs34060687	chr9:117374009-117374010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs34461311	chr9:117374013-117374014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs181537256	chr9:117374022-117374023	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs561958543	chr9:117374075-117374076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs527622532	chr9:117374080-117374081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs529713907	chr9:117374116-117374117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs74691083	chr9:117374138-117374139	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs566832874	chr9:117374158-117374159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs541560418	chr9:117374217-117374218	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs10982329	chr9:117374246-117374247	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117356200-117373000	Weak transcription	Stomach Mucosa	stomach
2	chr9:117360000-117373000	Weak transcription	Right Ventricle	heart
3	chr9:117360000-117373200	Weak transcription	Aorta	Aorta
4	chr9:117360800-117373400	Weak transcription	Small Intestine	intestine
5	chr9:117361200-117373000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:117361600-117372800	Weak transcription	Brain Angular Gyrus	brain
7	chr9:117361600-117372800	Weak transcription	Brain Anterior Caudate	brain
8	chr9:117361800-117372800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:117361800-117373000	Weak transcription	Colonic Mucosa	Colon
10	chr9:117361800-117373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:117362000-117372800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:117362200-117372800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:117362200-117372800	Weak transcription	Fetal Brain Female	brain
14	chr9:117362400-117372800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:117362600-117372800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:117362800-117373000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:117362800-117373000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:117363000-117372800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:117363000-117372800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:117363400-117372800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:117363400-117373200	Weak transcription	Gastric	stomach
22	chr9:117363400-117373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:117363600-117372800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:117363600-117372800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:117363600-117372800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:117363600-117373200	Weak transcription	Lung	lung
27	chr9:117363800-117372800	Weak transcription	Thymus	Thymus
28	chr9:117363800-117372800	Weak transcription	A549	lung
29	chr9:117363800-117373000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr9:117364200-117373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:117364400-117373000	Weak transcription	Fetal Intestine Small	intestine
32	chr9:117364400-117373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:117364600-117372800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:117364600-117372800	Weak transcription	Spleen	Spleen
35	chr9:117364600-117373200	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:117365200-117372800	Weak transcription	Primary T cells from cord blood	blood
37	chr9:117365800-117372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:117365800-117373000	Weak transcription	NHEK	skin
39	chr9:117366000-117373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:117368600-117372800	Weak transcription	Fetal Thymus	thymus
41	chr9:117368800-117372800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:117368800-117372800	Weak transcription	Fetal Kidney	kidney
43	chr9:117369000-117373000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:117369200-117373000	Weak transcription	HUVEC	blood vessel
45	chr9:117369200-117373000	Weak transcription	NH-A	brain
46	chr9:117369200-117373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:117369200-117373200	Weak transcription	NHLF	lung
48	chr9:117369400-117372800	Enhancers	Primary B cells from cord blood	blood
49	chr9:117369400-117373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:117369400-117373200	Weak transcription	Left Ventricle	heart

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