Variant report

Variant	nsv973479
Chromosome Location	chr9:22006327-22010710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:592)
CpG islands
(count:183)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:592 , 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	chr9:22009455-22009660	HepG2	liver:	n/a	n/a
2	BACH1	chr9:22008573-22009356	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr9:22008524-22008976	GM12878	blood:	n/a	n/a
4	BCLAF1	chr9:22009119-22009789	GM12878	blood:	n/a	chr9:22009374-22009383
5	BHLHE40	chr9:22008580-22008925	GM12878	blood:	n/a	n/a
6	BRCA1	chr9:22008562-22009823	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr9:22008729-22009196	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr9:22008568-22009761	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr9:22006261-22006469	HepG2	liver:	n/a	chr9:22006407-22006418
10	CEBPB	chr9:22006250-22006572	Hela-S3	cervix:	n/a	chr9:22006407-22006418
11	CEBPB	chr9:22006272-22006564	H1-hESC	embryonic stem cell:	n/a	chr9:22006407-22006418
12	CEBPB	chr9:22006263-22006559	IMR90	lung:	n/a	chr9:22006407-22006418
13	CEBPD	chr9:22009402-22009659	HepG2	liver:	n/a	n/a
14	CHD1	chr9:22007880-22009989	IMR90	lung:	n/a	n/a
15	CHD1	chr9:22008491-22008543	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr9:22009071-22009266	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr9:22008560-22009794	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr9:22008667-22009259	HepG2	liver:	n/a	n/a
19	CHD2	chr9:22009344-22009683	GM12878	blood:	n/a	n/a
20	CHD2	chr9:22006041-22006430	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr9:22008628-22009693	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr9:22008536-22009696	HepG2	liver:	n/a	n/a
23	CREB1	chr9:22009098-22009675	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr9:22008561-22009708	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr9:22008576-22009656	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr9:22005142-22006348	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:22009329-22009536	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr9:22009500-22009650	AG10803	skin:	n/a	chr9:22009587-22009600
29	CTCF	chr9:22009520-22009670	BJ	skin:	n/a	chr9:22009587-22009600
30	CTCF	chr9:22008760-22008910	BJ	skin:	n/a	n/a
31	CTCF	chr9:22008660-22008810	HCT-116	colon:	n/a	n/a
32	CTCF	chr9:22009246-22009362	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr9:22008680-22008830	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:22008720-22008870	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr9:22008660-22008810	GM12873	blood:	n/a	n/a
36	CTCF	chr9:22009192-22009282	GM12878	blood:	n/a	n/a
37	CTCF	chr9:22009480-22009630	SK-N-SH_RA	brain:	n/a	chr9:22009587-22009600
38	CTCF	chr9:22009160-22009310	Hela-S3	cervix:	n/a	chr9:22009173-22009183
39	CTCF	chr9:22009140-22009290	SK-N-SH_RA	brain:	n/a	chr9:22009173-22009183
40	CTCF	chr9:22009520-22009670	HPF	lung:	n/a	chr9:22009587-22009600
41	CTCF	chr9:22006200-22006350	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr9:22008655-22008905	GM13976	blood:	n/a	n/a
43	CTCF	chr9:22008740-22008890	HepG2	liver:	n/a	n/a
44	CTCF	chr9:22009550-22009648	MCF-7	breast:	n/a	chr9:22009587-22009600
45	CTCF	chr9:22009540-22009690	WI-38	lung:	n/a	chr9:22009587-22009600
46	CTCF	chr9:22009500-22009650	HRE	kidney:	n/a	chr9:22009587-22009600
47	CTCF	chr9:22008971-22008974	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr9:22009500-22009650	HMF	breast:	n/a	chr9:22009587-22009600
49	CTCF	chr9:22008700-22008850	GM12864	blood:	n/a	n/a
50	CTCF	chr9:22009460-22009610	GM12871	blood:	n/a	chr9:22009587-22009600

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:22008970-22009020	GM12878	blood:	n/a
2	chr9:22008970-22009020	SAEC	small airway:	n/a
3	chr9:22008970-22009020	GM12892	blood:	n/a
4	chr9:22009355-22009405	RPTEC	kidney:	n/a
5	chr9:22009355-22009405	HUVEC	blood vessel:	n/a
6	chr9:22009595-22009645	HCPEpiC	choroid plexus:	n/a
7	chr9:22009595-22009645	NHDF-neo	bronchial:	n/a
8	chr9:22009355-22009405	Hela-S3	cervix:	n/a
9	chr9:22008970-22009020	NB4	blood:	n/a
10	chr9:22009355-22009405	NHBE	bronchial:	n/a
11	chr9:22009595-22009645	AG09309	skin:	n/a
12	chr9:22009355-22009405	AG04449	skin:	fetal
13	chr9:22008970-22009020	ProgFib	skin:	n/a
14	chr9:22009355-22009405	HRPEpiC	eye:	n/a
15	chr9:22009355-22009405	LNCaP	prostate:	n/a
16	chr9:22008970-22009020	HepG2	liver:	n/a
17	chr9:22009595-22009645	RPTEC	kidney:	n/a
18	chr9:22009355-22009405	HRE	kidney:	n/a
19	chr9:22008970-22009020	SK-N-SH_RA	brain:	n/a
20	chr9:22008970-22009020	HRPEpiC	eye:	n/a
21	chr9:22008970-22009020	AG10803	skin:	n/a
22	chr9:22009355-22009405	GM19239	blood:	n/a
23	chr9:22008970-22009020	AG04449	skin:	fetal
24	chr9:22009595-22009645	NHBE	bronchial:	n/a
25	chr9:22009355-22009405	NHDF-neo	bronchial:	n/a
26	chr9:22008970-22009020	K562	blood:	n/a
27	chr9:22009595-22009645	HEK293	kidney:	embryo
28	chr9:22008970-22009020	AoSMC	blood vessel:	n/a
29	chr9:22009595-22009645	GM19239	blood:	n/a
30	chr9:22009595-22009645	HMEC	breast:	n/a
31	chr9:22008970-22009020	H1-hESC	embryonic stem cell:	embryo
32	chr9:22009355-22009405	HEEpiC	esophagus:	n/a
33	chr9:22008970-22009020	NH-A	brain:	n/a
34	chr9:22009595-22009645	ProgFib	skin:	n/a
35	chr9:22009355-22009405	HepG2	liver:	n/a
36	chr9:22009595-22009645	ECC-1	luminal epithelium:	n/a
37	chr9:22008970-22009020	HUVEC	blood vessel:	n/a
38	chr9:22009355-22009405	NH-A	brain:	n/a
39	chr9:22008970-22009020	T-47D	breast:	n/a
40	chr9:22009355-22009405	CMK	blood:	n/a
41	chr9:22009595-22009645	PANC-1	pancreas:	n/a
42	chr9:22009595-22009645	SKMC	muscle:	n/a
43	chr9:22009595-22009645	HRE	kidney:	n/a
44	chr9:22008970-22009020	IMR90	lung:	fetal
45	chr9:22009595-22009645	HEEpiC	esophagus:	n/a
46	chr9:22008970-22009020	RPTEC	kidney:	n/a
47	chr9:22009595-22009645	NH-A	brain:	n/a
48	chr9:22009355-22009405	ovcar-3	ovarian:	n/a
49	chr9:22009355-22009405	HEK293	kidney:	embryo
50	chr9:22009595-22009645	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
2	chr9:22007147..22011040-chr9:22011810..22014340,4	MCF-7	breast:
3	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:
4	chr7:73588443..73589078-chr9:22008320..22009302,2	Hela-S3	cervix:
5	chr11:62622316..62623099-chr9:22008957..22009804,2	Hela-S3	cervix:
6	chr9:22007424..22010079-chr9:22214224..22216298,2	MCF-7	breast:
7	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDKN2B	hsa-miR-375	chr9:22007102-22007096

Variant related genes	Relation type
CDKN2B	TF binding region
UBA52P6	TF binding region
CDKN2B	CpG island
UBA52P6	CpG island
ENSG00000255717	chromatin interactions
ENSG00000240498	chromatin interactions
ENSG00000236921	chromatin interactions
ENSG00000106682	chromatin interactions
ENSG00000147889	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000215221	chromatin interactions
ENSG00000266446	chromatin interactions
ENSG00000099810	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs974336	chr9:22006348-22006349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145498745	chr9:22006368-22006369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367815834	chr9:22006486-22006487	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78411540	chr9:22006500-22006501	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575150054	chr9:22006501-22006502	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372703931	chr9:22006511-22006512	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs117271659	chr9:22006524-22006525	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188843538	chr9:22006536-22006537	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368869741	chr9:22006593-22006594	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3217980	chr9:22006607-22006608	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559326756	chr9:22006701-22006702	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368867598	chr9:22006738-22006739	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560005165	chr9:22006754-22006755	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs202025879	chr9:22006755-22006756	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192756265	chr9:22006764-22006765	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75082754	chr9:22006775-22006776	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374034887	chr9:22006783-22006784	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2069425	chr9:22006793-22006794	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372873045	chr9:22006802-22006803	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565297219	chr9:22006884-22006885	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200003797	chr9:22006941-22006942	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546316312	chr9:22006945-22006946	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571158080	chr9:22006963-22006964	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2285328	chr9:22006966-22006967	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186657258	chr9:22007015-22007016	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562227591	chr9:22007021-22007022	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2285327	chr9:22007048-22007049	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535290110	chr9:22007076-22007077	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576187990	chr9:22007092-22007093	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551555961	chr9:22007143-22007144	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs565276384	chr9:22007150-22007151	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs3217979	chr9:22007187-22007188	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561532605	chr9:22007249-22007250	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs149099202	chr9:22007273-22007274	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs3217978	chr9:22007330-22007331	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148289919	chr9:22007336-22007337	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs550327973	chr9:22007348-22007349	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs3217977	chr9:22007358-22007359	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs397713608	chr9:22007365-22007366	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs571781431	chr9:22007431-22007432	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs181878105	chr9:22007437-22007438	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs570161838	chr9:22007448-22007449	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs538080076	chr9:22007457-22007458	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs62556545	chr9:22007461-22007462	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs577721896	chr9:22007479-22007480	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs184456611	chr9:22007612-22007613	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs553996609	chr9:22007622-22007623	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs573587814	chr9:22007625-22007626	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs542191987	chr9:22007689-22007690	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs555886990	chr9:22007692-22007693	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:162)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	21272361	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glioblastoma multiforme	21713760	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:22003800-22006800	Transcr. at gene 5' and 3'	NH-A	brain
4	chr9:22004200-22006400	Bivalent Enhancer	Primary B cells from cord blood	blood
5	chr9:22004800-22006400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr9:22004800-22006600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:22005000-22006400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:22005000-22006400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr9:22005000-22006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:22005000-22006400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr9:22005000-22006400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:22005000-22006400	Transcr. at gene 5' and 3'	HSMMtube	muscle
13	chr9:22005000-22006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr9:22005000-22006600	Transcr. at gene 5' and 3'	Hela-S3	cervix
15	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr9:22005200-22006400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:22005200-22006400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:22005200-22006400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:22005200-22006400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:22005200-22006400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
21	chr9:22005200-22006400	Enhancers	Pancreas	Pancrea
22	chr9:22005200-22006400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
23	chr9:22005200-22006400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr9:22005200-22006400	Bivalent Enhancer	Spleen	Spleen
25	chr9:22005200-22006400	Transcr. at gene 5' and 3'	NHLF	lung
26	chr9:22005200-22006600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr9:22005200-22006800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:22005400-22006400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:22005400-22006400	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr9:22005400-22006600	Flanking Active TSS	NHEK	skin
31	chr9:22005400-22006800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:22005400-22006800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:22005400-22007200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr9:22005600-22006400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr9:22005600-22006400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr9:22005600-22009400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:22005800-22006400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr9:22005800-22006400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:22005800-22006400	Bivalent Enhancer	Primary T cells from cord blood	blood
40	chr9:22005800-22006400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr9:22005800-22006400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr9:22005800-22006400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr9:22005800-22006400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr9:22005800-22006600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr9:22005800-22006600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr9:22005800-22006600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:22005800-22007400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:22005800-22009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:22006000-22006400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:22006000-22006400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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