Variant report

Variant	esv3492901
Chromosome Location	chr9:21971095-22006263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1265)
CpG islands
(count:612)
Chromatin interactive
region (count:26)
LncRNA
region (count:97)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:21995391-21995755	GM12878	blood:	n/a	n/a
2	ATF2	chr9:21994634-21995598	GM12878	blood:	n/a	n/a
3	BACH1	chr9:21998318-21998349	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:22005927-22006069	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:21974672-21974703	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr9:21989615-21990202	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:21988512-21988665	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr9:21986778-21987119	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr9:21994172-21995157	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:22005124-22005695	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCLAF1	chr9:21993758-21994467	GM12878	blood:	n/a	n/a
12	BCLAF1	chr9:21994787-21995429	GM12878	blood:	n/a	n/a
13	BHLHE40	chr9:21994100-21994469	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:21994672-21995499	GM12878	blood:	n/a	n/a
15	BRCA1	chr9:21993110-21993768	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr9:21994126-21994406	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr9:21990482-21990676	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr9:21994069-21994076	GM12878	blood:	n/a	n/a
19	BRCA1	chr9:21986408-21987508	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr9:21974679-21975657	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr9:21994692-21995684	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr9:22006261-22006469	HepG2	liver:	n/a	chr9:22006407-22006418
23	CEBPB	chr9:21974374-21974549	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr9:21982926-21983514	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr9:22006263-22006559	IMR90	lung:	n/a	chr9:22006407-22006418
26	CEBPB	chr9:22006250-22006572	Hela-S3	cervix:	n/a	chr9:22006407-22006418
27	CEBPB	chr9:21974371-21975306	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr9:21988503-21988895	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr9:21986791-21987562	Hela-S3	cervix:	n/a	chr9:21987527-21987539
30	CEBPB	chr9:21996953-21997136	IMR90	lung:	n/a	n/a
31	CEBPB	chr9:21993452-21995279	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr9:21996346-21996397	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr9:21994939-21995297	GM12878	blood:	n/a	n/a
34	CHD1	chr9:21974416-21974558	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr9:21994128-21994362	GM12878	blood:	n/a	n/a
36	CHD1	chr9:21974833-21975199	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr9:21994134-21994496	GM12878	blood:	n/a	n/a
38	CHD2	chr9:21993425-21996574	Hela-S3	cervix:	n/a	chr9:21994777-21994787
39	CHD2	chr9:22005291-22005482	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr9:21995171-21995759	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr9:21994764-21994964	GM12878	blood:	n/a	chr9:21994777-21994787
42	CHD2	chr9:21995166-21995689	GM12878	blood:	n/a	n/a
43	CHD2	chr9:21970848-21971129	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr9:21974495-21975731	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr9:21974451-21975311	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr9:22006041-22006430	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr9:21994970-21995708	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr9:21974657-21975134	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr9:21994916-21995679	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr9:21994129-21995955	GM12878	blood:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:21995733-21995783	GM12878	blood:	n/a
2	chr9:21995312-21995362	K562	blood:	n/a
3	chr9:21995733-21995783	GM12878	blood:	n/a
4	chr9:21995312-21995362	K562	blood:	n/a
5	chr9:21995735-21995785	BJ	skin:	n/a
6	chr9:21994435-21994485	K562	blood:	n/a
7	chr9:22005288-22005338	HAEpiC	amniotic membrane:	n/a
8	chr9:21974704-21974754	HepG2	liver:	n/a
9	chr9:21996207-21996257	GM19239	blood:	n/a
10	chr9:21995312-21995362	HEK293	kidney:	embryo
11	chr9:21994223-21994273	NHBE	bronchial:	n/a
12	chr9:21994435-21994485	AG09309	skin:	n/a
13	chr9:21974704-21974754	Caco-2	colon:	n/a
14	chr9:21974514-21974564	MCF10A-Er-Src	breast:	n/a
15	chr9:21974514-21974564	GM12892	blood:	n/a
16	chr9:21974704-21974754	NHDF-neo	bronchial:	n/a
17	chr9:21974514-21974564	PFSK-1	brain:	n/a
18	chr9:21994435-21994485	SKMC	muscle:	n/a
19	chr9:21995733-21995783	ProgFib	skin:	n/a
20	chr9:21974514-21974564	AG04449	skin:	fetal
21	chr9:21994435-21994485	GM12891	blood:	n/a
22	chr9:21994435-21994485	HUVEC	blood vessel:	n/a
23	chr9:21995312-21995362	H1-hESC	embryonic stem cell:	embryo
24	chr9:21995735-21995785	HL-60	blood:	n/a
25	chr9:21995735-21995785	CMK	blood:	n/a
26	chr9:21995735-21995785	HAEpiC	amniotic membrane:	n/a
27	chr9:21996207-21996257	NHBE	bronchial:	n/a
28	chr9:21974514-21974564	AG04450	lung:	fetal
29	chr9:21995312-21995362	PFSK-1	brain:	n/a
30	chr9:21994223-21994273	BJ	skin:	n/a
31	chr9:21995733-21995783	NHBE	bronchial:	n/a
32	chr9:21994435-21994485	CMK	blood:	n/a
33	chr9:21994435-21994485	AG10803	skin:	n/a
34	chr9:21974514-21974564	T-47D	breast:	n/a
35	chr9:21994223-21994273	HIPEpiC	eye:	n/a
36	chr9:22005563-22005613	AG09319	gingival:	n/a
37	chr9:21974514-21974564	ECC-1	luminal epithelium:	n/a
38	chr9:21974514-21974564	SKMC	muscle:	n/a
39	chr9:22005288-22005338	SAEC	small airway:	n/a
40	chr9:21995735-21995785	HEEpiC	esophagus:	n/a
41	chr9:21995312-21995362	NHDF-neo	bronchial:	n/a
42	chr9:21995735-21995785	MCF-7	breast:	n/a
43	chr9:21995735-21995785	HMEC	breast:	n/a
44	chr9:21995733-21995783	HNPCEpiC	eye:	n/a
45	chr9:22005288-22005338	NT2-D1	testis:	n/a
46	chr9:21995733-21995783	NHDF-neo	bronchial:	n/a
47	chr9:21995735-21995785	PrEC	prostate:	n/a
48	chr9:22005288-22005338	BE2_C	brain:	n/a
49	chr9:22005288-22005338	HRE	kidney:	n/a
50	chr9:22005288-22005338	MCF-7	breast:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21990535..21992098-chr9:21992103..21994653,2	MCF-7	breast:
2	chr9:21811532..21820564-chr9:21988281..21997291,17	MCF-7	breast:
3	chr9:21801607..21803714-chr9:21992951..21995865,2	MCF-7	breast:
4	chr9:21994658..21996988-chr9:22001794..22004209,3	MCF-7	breast:
5	chr12:109124919..109125758-chr9:21974432..21974963,2	Hela-S3	cervix:
6	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:
7	chr9:21999310..22001355-chr9:22237722..22240427,2	MCF-7	breast:
8	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
9	chr21:41757151..41759568-chr9:22002838..22004558,2	MCF-7	breast:
10	chr9:21811237..21820561-chr9:21988636..21997115,18	MCF-7	breast:
11	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:
12	chr9:21989242..21991114-chr9:22008985..22011051,2	MCF-7	breast:
13	chr9:22003045..22005596-chr9:22081928..22084835,3	MCF-7	breast:
14	chr9:21999324..22001192-chr9:22037944..22040243,2	MCF-7	breast:
15	chr9:22003176..22005515-chr9:22097864..22100097,2	MCF-7	breast:
16	chr9:21995575..21999159-chr9:22007136..22010675,4	MCF-7	breast:
17	chr9:22003592..22005818-chr9:22239083..22240944,2	MCF-7	breast:
18	chr9:21989926..21991515-chr9:22100273..22102679,2	MCF-7	breast:
19	chr9:21993265..21995493-chr9:21997004..21999736,2	MCF-7	breast:
20	chr9:22002808..22004535-chr9:22101357..22102863,2	MCF-7	breast:
21	chr9:21813108..21815129-chr9:22001503..22004148,2	MCF-7	breast:
22	chr9:22001061..22004369-chr9:22238079..22242030,5	MCF-7	breast:
23	chr9:21991860..21994281-chr9:22027750..22030080,2	MCF-7	breast:
24	chr9:22001905..22005443-chr9:22006837..22010550,5	MCF-7	breast:
25	chr6:109703151..109703771-chr9:21974424..21975243,2	Hela-S3	cervix:
26	chr9:21802179..21803949-chr9:21994356..21995893,2	MCF-7	breast:

(count:97 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTAP-1	chr9:21994790-21995160	NONHSAT130422
2	lnc-MTAP-1	chr9:21994777-21994848	ENSG00000240498.2
3	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
4	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
5	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
6	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
7	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
8	lnc-MTAP-1	chr9:21995047-21995160	ENSG00000240498.2
9	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
10	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
11	lnc-MTAP-1	chr9:21994777-21994848	ENSG00000240498.2
12	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
13	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
14	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
15	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
16	lnc-MTAP-1	chr9:21994777-21994848	ENSG00000240498.2
17	lnc-MTAP-1	chr9:21995094-21995160	ENSG00000240498.2
18	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
19	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
20	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
21	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
22	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
23	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
24	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
25	lnc-MTAP-1	chr9:21995047-21995160	ENSG00000240498.2
26	lnc-C9orf53-1	chr9:21995602-21996012	ENSG00000266446.1
27	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
28	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
29	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
30	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
31	lnc-CDKN2B-2	chr9:21994027-21994319	NONHSAT130412
32	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
33	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
34	lnc-C9orf53-1	chr9:21995481-21995504	ENSG00000266446.1
35	lnc-MTAP-1	chr9:21994790-21995160	NONHSAT130425
36	lnc-MTAP-1	chr9:21995047-21995160	ENSG00000240498.2
37	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
38	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
39	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
40	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
41	lnc-MTAP-1	chr9:21995094-21995160	ENSG00000240498.2
42	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
43	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
44	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
45	lnc-CDKN2B-2	chr9:21994820-21994872	NONHSAT130411
46	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2
47	lnc-MTAP-1	chr9:21994777-21994848	ENSG00000240498.2
48	lnc-MTAP-1	chr9:21994901-21995160	ENSG00000240498.2
49	lnc-CDKN2B-2	chr9:21993881-21994067	NONHSAT130411
50	lnc-MTAP-1	chr9:21994790-21995160	ENSG00000240498.2

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDKN2B	hsa-miR-375	chr9:22004675-22004669

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
CDKN2A	TF binding region
ENSG00000266446	TF binding region
CDKN2B-AS1	CpG island
CDKN2A	CpG island
ENSG00000266446	CpG island
ENSG00000147883	chromatin interactions
ENSG00000147889	chromatin interactions
ENSG00000135535	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000236921	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000229298	chromatin interactions
ENSG00000266446	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000240498	chromatin interactions
CDKN2B	lncRNA
CARD8	lncRNA
TMEM258	lncRNA
VAMP3	lncRNA
ADIPOR1	lncRNA

Extended variants
information (count: 1398 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs121913384	chr9:21971096-21971097	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546300971	chr9:21971097-21971098	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11552822	chr9:21971108-21971109	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34968276	chr9:21971109-21971110	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs121913385	chr9:21971111-21971112	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11552823	chr9:21971116-21971117	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs121913388	chr9:21971120-21971121	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200429615	chr9:21971137-21971138	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559848002	chr9:21971146-21971147	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372670098	chr9:21971152-21971153	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs121913383	chr9:21971153-21971154	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374984975	chr9:21971160-21971161	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs121913382	chr9:21971177-21971178	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs36204594	chr9:21971179-21971180	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527503775	chr9:21971181-21971182	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs104894099	chr9:21971182-21971183	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201208890	chr9:21971184-21971185	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs36204273	chr9:21971185-21971186	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs121913387	chr9:21971186-21971187	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs372266620	chr9:21971188-21971189	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140844717	chr9:21971189-21971190	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs104894109	chr9:21971191-21971192	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561034503	chr9:21971194-21971195	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201314211	chr9:21971198-21971199	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs104894095	chr9:21971199-21971200	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs529380972	chr9:21971211-21971212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs563273397	chr9:21971227-21971228	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532110067	chr9:21971281-21971282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs551871163	chr9:21971284-21971285	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs565411704	chr9:21971289-21971290	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532718847	chr9:21971291-21971292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527380593	chr9:21971321-21971322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs3731248	chr9:21971324-21971325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs3731247	chr9:21971352-21971353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551522281	chr9:21971379-21971380	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs12377672	chr9:21971418-21971419	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548725319	chr9:21971422-21971423	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138233963	chr9:21971430-21971431	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527316853	chr9:21971438-21971439	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537725336	chr9:21971488-21971489	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374415318	chr9:21971499-21971500	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548997090	chr9:21971503-21971504	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376220277	chr9:21971504-21971505	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539812176	chr9:21971509-21971510	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs553506109	chr9:21971511-21971512	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573333004	chr9:21971520-21971521	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189146471	chr9:21971573-21971574	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs192266838	chr9:21971574-21971575	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs59981968	chr9:21971575-21971576	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540907327	chr9:21971581-21971582	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:211)

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
Glioblastoma multiforme	21525872	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
Ewing''s sarcoma	17952124	CNVD
Lung adenocarcinoma	17982442	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	21272361	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	19651600	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Gastric cancer	22315472	CNVD
Pancreatic cancer	21811562	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Cancer	17440616	CNVD
Leukemia	21670474	CNVD
Lung cancer	21512611	CNVD
Prostate cancer	19363497	CNVD
Renal cell carcinoma	21228928	CNVD
T-cell acute lymphoblastic leukemia	16270038	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Cancer	21278246	CNVD
Melanoma	19011513	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Lung cancer	17440070	CNVD
Melanoma	17440070	CNVD
Pancreas cancer	17440070	CNVD
Neuroblastoma	19638189	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	18852474	CNVD
Malignant melanoma	17260012	CNVD
Acute myeloid leukemia	21518781	CNVD
Esophageal cancer	21518781	CNVD
Follicular lymphoma	21518781	CNVD
Glioblastoma multiforme	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Neuroblastoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
pediatric acute lymphoblastic leukemia	21518781	CNVD
Colorectal cancer	21518781	CNVD
CNS lymphoma	21518781	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Lung adenocarcinoma	22272264	CNVD
Neuroblastoma	22034077	CNVD
Glioblastoma multiforme	21713760	CNVD
Bladder cancer	21909424	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1585 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21965400-21972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:21966200-21972000	Strong transcription	Dnd41	blood
3	chr9:21967200-21971200	ZNF genes & repeats	HMEC	breast
4	chr9:21968200-21971400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr9:21968400-21971200	ZNF genes & repeats	HSMM	muscle
6	chr9:21968800-21971200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:21969000-21971600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr9:21970000-21971200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:21970200-21971400	ZNF genes & repeats	Lung	lung
10	chr9:21970200-21971400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr9:21970400-21971400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:21970400-21971400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr9:21970600-21971200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:21970600-21971200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:21970600-21971200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:21970600-21971200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr9:21970600-21971400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:21970600-21971400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:21970600-21971400	Bivalent Enhancer	HUVEC	blood vessel
20	chr9:21970600-21971600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr9:21970800-21971200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr9:21970800-21971200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:21970800-21971200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:21970800-21971200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr9:21970800-21971200	Bivalent Enhancer	Gastric	stomach
26	chr9:21970800-21971200	Bivalent Enhancer	Right Ventricle	heart
27	chr9:21970800-21971400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:21970800-21971400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:21970800-21971600	Bivalent Enhancer	Fetal Heart	heart
30	chr9:21970800-21971800	Strong transcription	Hela-S3	cervix
31	chr9:21970800-21972200	Weak transcription	HSMMtube	muscle
32	chr9:21971000-21971200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:21971000-21971200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:21971000-21971200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:21971000-21971200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:21971000-21971200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr9:21971000-21971200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:21971000-21971200	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr9:21971000-21971200	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr9:21971000-21971200	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr9:21971000-21971200	Bivalent Enhancer	Esophagus	oesophagus
42	chr9:21971000-21971200	Bivalent Enhancer	Left Ventricle	heart
43	chr9:21971000-21971200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr9:21971000-21971200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr9:21971000-21971200	Bivalent Enhancer	Spleen	Spleen
46	chr9:21971000-21971400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr9:21971000-21971400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr9:21971000-21971400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr9:21971000-21971400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:21971000-21971400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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