Variant report

Variant	nsv1035633
Chromosome Location	chr9:71995963-72176984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1593)
CpG islands
(count:1099)
Chromatin interactive
region (count:73)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1593 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:72164400-72164655	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:72027632-72027832	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:72134784-72135195	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:72037187-72037443	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:72142392-72142698	HepG2	liver:	n/a	n/a
6	ATF1	chr9:72154112-72154304	K562	blood:	n/a	n/a
7	ATF1	chr9:72109731-72109931	K562	blood:	n/a	n/a
8	ATF2	chr9:72000592-72001076	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr9:72000551-72001059	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:72158698-72158847	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr9:72044969-72045003	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr9:72134443-72134687	GM12878	blood:	n/a	n/a
13	BATF	chr9:72134491-72134684	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:72144410-72144472	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:72089795-72090335	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:72134455-72135132	GM12878	blood:	n/a	n/a
17	BHLHE40	chr9:71998366-71998558	K562	blood:	n/a	n/a
18	BHLHE40	chr9:72134866-72135094	HepG2	liver:	n/a	n/a
19	BHLHE40	chr9:72164450-72164650	GM12878	blood:	n/a	n/a
20	BRCA1	chr9:72027757-72027957	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr9:72046604-72047163	K562	blood:	n/a	n/a
22	CBX3	chr9:72046628-72046987	K562	blood:	n/a	n/a
23	CEBPB	chr9:72134819-72135243	HepG2	liver:	n/a	chr9:72135022-72135033
24	CEBPB	chr9:72062134-72062154	IMR90	lung:	n/a	n/a
25	CEBPB	chr9:72169798-72170279	IMR90	lung:	n/a	chr9:72170094-72170107 chr9:72169999-72170010
26	CEBPB	chr9:72066922-72067693	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr9:72086809-72086957	HepG2	liver:	n/a	chr9:72086839-72086850 chr9:72086837-72086848 chr9:72086837-72086850
28	CEBPB	chr9:72078852-72078856	K562	blood:	n/a	n/a
29	CEBPB	chr9:72118805-72118847	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr9:72119332-72119551	HepG2	liver:	n/a	chr9:72119440-72119451
31	CEBPB	chr9:72169729-72170266	MCF-7	breast:	n/a	chr9:72170094-72170107 chr9:72169999-72170010
32	CEBPB	chr9:72062154-72062778	HepG2	liver:	n/a	n/a
33	CEBPB	chr9:72009741-72009916	HepG2	liver:	n/a	n/a
34	CEBPB	chr9:72067054-72067658	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr9:72078749-72078894	H1-hESC	embryonic stem cell:	n/a	chr9:72078782-72078793 chr9:72078780-72078793 chr9:72078782-72078793 chr9:72078768-72078781 chr9:72078777-72078794
36	CEBPB	chr9:72146919-72147139	HepG2	liver:	n/a	chr9:72146949-72146960
37	CEBPB	chr9:72146929-72147007	H1-hESC	embryonic stem cell:	n/a	chr9:72146949-72146960
38	CEBPB	chr9:71998060-71998268	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:72027580-72027806	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr9:72083337-72083612	HepG2	liver:	n/a	chr9:72083464-72083475 chr9:72083463-72083476
41	CEBPB	chr9:72134823-72135212	HepG2	liver:	n/a	chr9:72135022-72135033
42	CEBPB	chr9:72175733-72175907	IMR90	lung:	n/a	chr9:72175808-72175821 chr9:72175810-72175819 chr9:72175810-72175821 chr9:72175808-72175821
43	CEBPB	chr9:72134878-72135149	IMR90	lung:	n/a	chr9:72135022-72135033
44	CEBPB	chr9:72134922-72135151	A549	lung:	n/a	chr9:72135022-72135033
45	CEBPB	chr9:72169839-72170154	Hela-S3	cervix:	n/a	chr9:72170094-72170107 chr9:72169999-72170010
46	CEBPB	chr9:72129835-72129843	HepG2	liver:	n/a	n/a
47	CEBPB	chr9:72134903-72135189	HepG2	liver:	n/a	chr9:72135022-72135033
48	CEBPB	chr9:72062496-72062722	IMR90	lung:	n/a	n/a
49	CEBPB	chr9:72037167-72037438	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr9:72169838-72170186	K562	blood:	n/a	chr9:72170094-72170107 chr9:72169999-72170010

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:72128717-72128767	HL-60	blood:	n/a
2	chr9:72128717-72128767	HL-60	blood:	n/a
3	chr9:72132173-72132223	HRPEpiC	eye:	n/a
4	chr9:72131278-72131328	HRPEpiC	eye:	n/a
5	chr9:72131278-72131328	AoSMC	blood vessel:	n/a
6	chr9:72132173-72132223	NH-A	brain:	n/a
7	chr9:72129977-72130027	RPTEC	kidney:	n/a
8	chr9:72132173-72132223	ovcar-3	ovarian:	n/a
9	chr9:72027019-72027069	MCF10A-Er-Src	breast:	n/a
10	chr9:72158091-72158141	IMR90	lung:	fetal
11	chr9:72078829-72078879	HRPEpiC	eye:	n/a
12	chr9:72134749-72134799	H1-hESC	embryonic stem cell:	embryo
13	chr9:72131278-72131328	PANC-1	pancreas:	n/a
14	chr9:72130914-72130964	BJ	skin:	n/a
15	chr9:72046240-72046290	BJ	skin:	n/a
16	chr9:72128717-72128767	GM12892	blood:	n/a
17	chr9:72081155-72081205	SK-N-SH	brain:	n/a
18	chr9:72081155-72081205	HMEC	breast:	n/a
19	chr9:72129977-72130027	NHDF-neo	bronchial:	n/a
20	chr9:72131655-72131705	HCM	heart:	n/a
21	chr9:72131655-72131705	NH-A	brain:	n/a
22	chr9:72131655-72131705	LNCaP	prostate:	n/a
23	chr9:72128717-72128767	MCF10A-Er-Src	breast:	n/a
24	chr9:72131655-72131705	HIPEpiC	eye:	n/a
25	chr9:72132995-72133045	AG09319	gingival:	n/a
26	chr9:72132995-72133045	AoSMC	blood vessel:	n/a
27	chr9:72128717-72128767	AG10803	skin:	n/a
28	chr9:72164709-72164759	SK-N-MC	brain:	n/a
29	chr9:72130914-72130964	SK-N-SH_RA	brain:	n/a
30	chr9:72128717-72128767	PFSK-1	brain:	n/a
31	chr9:72129977-72130027	ECC-1	luminal epithelium:	n/a
32	chr9:72164709-72164759	A549	lung:	n/a
33	chr9:72158091-72158141	MCF10A-Er-Src	breast:	n/a
34	chr9:72130471-72130521	MCF10A-Er-Src	breast:	n/a
35	chr9:72081155-72081205	HCPEpiC	choroid plexus:	n/a
36	chr9:72131026-72131076	NH-A	brain:	n/a
37	chr9:72131278-72131328	BE2_C	brain:	n/a
38	chr9:72158091-72158141	HEEpiC	esophagus:	n/a
39	chr9:72027409-72027459	AoSMC	blood vessel:	n/a
40	chr9:72081155-72081205	HIPEpiC	eye:	n/a
41	chr9:72027409-72027459	AG10803	skin:	n/a
42	chr9:72158091-72158141	Hepatocyte	liver:	n/a
43	chr9:72130914-72130964	HCPEpiC	choroid plexus:	n/a
44	chr9:72128717-72128767	NHDF-neo	bronchial:	n/a
45	chr9:72130471-72130521	PrEC	prostate:	n/a
46	chr9:71999962-72000012	NHBE	bronchial:	n/a
47	chr9:72131026-72131076	LNCaP	prostate:	n/a
48	chr9:72131655-72131705	A549	lung:	n/a
49	chr9:72131278-72131328	RPTEC	kidney:	n/a
50	chr9:72027409-72027459	HRPEpiC	eye:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
2	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
3	chr9:72068242..72070671-chr9:72077608..72079150,2	MCF-7	breast:
4	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
5	chr9:71907137..71907714-chr9:72027328..72028069,2	MCF-7	breast:
6	chr9:71838226..71839166-chr9:72164211..72164843,2	MCF-7	breast:
7	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
8	chr9:71905657..71909249-chr9:72003453..72006230,4	MCF-7	breast:
9	chr9:72059861..72061593-chr9:72066565..72068301,2	MCF-7	breast:
10	chr9:71650223..71652373-chr9:72005112..72007667,2	MCF-7	breast:
11	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
12	chr9:71734709..71737586-chr9:72003144..72005018,2	MCF-7	breast:
13	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
14	chr9:71939060..71941489-chr9:72004680..72008165,4	MCF-7	breast:
15	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
16	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
17	chr9:72085073..72087680-chr9:72148293..72150316,2	MCF-7	breast:
18	chr9:72036807..72037778-chr9:72056686..72057333,2	MCF-7	breast:
19	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
20	chr9:72086703..72089641-chr9:72090516..72093121,4	MCF-7	breast:
21	chr16:84747898..84748501-chr9:72135912..72136596,2	MCF-7	breast:
22	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
23	chr9:71907771..71908503-chr9:72004389..72005167,3	MCF-7	breast:
24	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
25	chr9:71650287..71651089-chr9:72027660..72028217,2	K562	blood:
26	chr9:71649254..71651788-chr9:71993811..71996699,2	MCF-7	breast:
27	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
28	chr9:71995411..71998081-chr9:71998743..72001190,2	MCF-7	breast:
29	chr9:71907874..71908421-chr9:71999104..71999650,2	MCF-7	breast:
30	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
31	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:
32	chr9:71939667..71941572-chr9:71995013..71999921,5	MCF-7	breast:
33	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:
34	chr8:128880231..128883034-chr9:72000789..72002321,2	MCF-7	breast:
35	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
36	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
37	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:
38	chr9:72059861..72061593-chr9:72066565..72068301,2	MCF-7	breast:
39	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
40	chr9:72000714..72007830-chr9:72009954..72019278,14	MCF-7	breast:
41	chr9:72000502..72003339-chr9:72007156..72008716,2	K562	blood:
42	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
43	chr9:71999516..72001197-chr9:72009030..72011371,2	MCF-7	breast:
44	chr9:72036807..72037778-chr9:72056686..72057333,2	MCF-7	breast:
45	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
46	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
47	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
48	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
49	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
50	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-2	chr9:72009222-72010989	XLOC_007725
2	lnc-FAM189A2-1	chr9:72087382-72087506	ENSG00000229312.2
3	lnc-FAM189A2-1	chr9:72089179-72089269	ENSG00000229312.1
4	lnc-APBA1-1	chr9:72043544-72043637	ENSG00000243888
5	lnc-FAM189A2-1	chr9:72087382-72087506	ENSG00000229312.1
6	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.1
7	lnc-APBA1-2	chr9:72013650-72013753	XLOC_007725
8	lnc-APBA1-1	chr9:72043164-72043467	ENSG00000243888
9	lnc-FAM189A2-1	chr9:72089179-72089268	ENSG00000229312.2
10	lnc-FAM189A2-3	chr9:72124873-72127579	ucscGeneNc_uc004ahs_1
11	lnc-APBA1-1	chr9:72042449-72044751	NONHSAT131778
12	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.2

No data

Variant related genes	Relation type
ENSG00000229312	TF binding region
FAM189A2	TF binding region
ENSG00000243888	TF binding region
APBA1	TF binding region
ENSG00000229312	CpG island
FAM189A2	CpG island
ENSG00000243888	CpG island
APBA1	CpG island
ENSG00000119139	chromatin interactions
ENSG00000229312	chromatin interactions
ENSG00000135063	chromatin interactions
ENSG00000165060	chromatin interactions
PTEN	miRNA target sites
ARNTL	miRNA target sites

Extended variants
information (count: 6850 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6850 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574559302	chr9:71995972-71995973	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542783578	chr9:71995979-71995980	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147205733	chr9:71996022-71996023	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113555884	chr9:71996070-71996071	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138822279	chr9:71996154-71996155	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370993772	chr9:71996333-71996334	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs182592011	chr9:71996363-71996364	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs73459105	chr9:71996370-71996371	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141897122	chr9:71996436-71996437	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188390434	chr9:71996437-71996438	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530290339	chr9:71996440-71996441	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs375464199	chr9:71996482-71996483	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569101872	chr9:71996518-71996519	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs117557289	chr9:71996521-71996522	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368051794	chr9:71996535-71996536	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150629338	chr9:71996541-71996542	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553107957	chr9:71996561-71996562	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377665154	chr9:71996579-71996580	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113897704	chr9:71996580-71996581	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112457113	chr9:71996586-71996587	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570085903	chr9:71996676-71996677	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534627763	chr9:71996685-71996686	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112409384	chr9:71996695-71996696	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568211597	chr9:71996708-71996709	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535631018	chr9:71996742-71996743	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557154836	chr9:71996773-71996774	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113206198	chr9:71996782-71996783	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192270204	chr9:71996799-71996800	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139704762	chr9:71996823-71996824	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117298592	chr9:71996845-71996846	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572712167	chr9:71996866-71996867	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1334312	chr9:71996915-71996916	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1334311	chr9:71996967-71996968	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530272917	chr9:71996984-71996985	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141897691	chr9:71997004-71997005	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149780856	chr9:71997028-71997029	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563495017	chr9:71997035-71997036	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184679733	chr9:71997036-71997037	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551821250	chr9:71997103-71997104	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34676484	chr9:71997125-71997126	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113690562	chr9:71997174-71997175	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146295131	chr9:71997219-71997220	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528086190	chr9:71997243-71997244	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112534201	chr9:71997244-71997245	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199765560	chr9:71997263-71997264	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12378954	chr9:71997276-71997277	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568351628	chr9:71997310-71997311	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139784237	chr9:71997313-71997314	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73459109	chr9:71997339-71997340	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367651022	chr9:71997366-71997367	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1995 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
3	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:71986600-72002600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:71988800-71998600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:71989000-72002800	Weak transcription	Brain Substantia Nigra	brain
7	chr9:71989600-71997000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:71990600-72000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr9:71992000-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:71992200-71997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:71992200-72001800	Weak transcription	Adipose Nuclei	Adipose
14	chr9:71992400-71999400	Weak transcription	Brain Angular Gyrus	brain
15	chr9:71992400-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:71992600-71996000	Weak transcription	Right Atrium	heart
17	chr9:71992600-72000800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:71992600-72006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:71992600-72006600	Weak transcription	Esophagus	oesophagus
20	chr9:71992800-71997200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:71992800-71997400	Enhancers	Fetal Muscle Leg	muscle
22	chr9:71992800-71998200	Weak transcription	Ovary	ovary
23	chr9:71992800-71998400	Weak transcription	Fetal Stomach	stomach
24	chr9:71992800-72000200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:71992800-72001400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:71993000-71997000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:71993000-72006600	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:71993600-71996000	Enhancers	HUVEC	blood vessel
29	chr9:71993600-71997200	Enhancers	Stomach Smooth Muscle	stomach
30	chr9:71993800-71996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:71994000-71996000	Enhancers	Fetal Heart	heart
32	chr9:71994000-71997400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:71994000-71997400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:71994200-71996200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:71994200-71996200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:71994200-71996200	Enhancers	Fetal Muscle Trunk	muscle
37	chr9:71994200-71996200	Enhancers	Left Ventricle	heart
38	chr9:71994400-72006800	Weak transcription	Spleen	Spleen
39	chr9:71994800-71996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:71994800-71996200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:71994800-71996200	Enhancers	HMEC	breast
42	chr9:71994800-71996600	Enhancers	Colon Smooth Muscle	Colon
43	chr9:71994800-71998400	Weak transcription	Gastric	stomach
44	chr9:71994800-72000200	Weak transcription	Pancreas	Pancrea
45	chr9:71995000-71996000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:71995000-71996000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:71995000-71996200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:71995000-71996200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr9:71995000-71996200	Enhancers	HSMM	muscle
50	chr9:71995000-71996200	Enhancers	NH-A	brain

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