Variant report

Variant	nsv893429
Chromosome Location	chr9:71961923-72047337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:72027632-72027832	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:72037187-72037443	HepG2	liver:	n/a	n/a
3	ATF2	chr9:72000551-72001059	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr9:72000592-72001076	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:72044969-72045003	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr9:71998366-71998558	K562	blood:	n/a	n/a
7	BRCA1	chr9:72027757-72027957	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr9:72046604-72047163	K562	blood:	n/a	n/a
9	CBX3	chr9:72046628-72046987	K562	blood:	n/a	n/a
10	CEBPB	chr9:71969151-71969182	A549	lung:	n/a	n/a
11	CEBPB	chr9:71991437-71991763	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr9:71998060-71998268	HepG2	liver:	n/a	n/a
13	CEBPB	chr9:72037167-72037438	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr9:72027580-72027806	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr9:71991458-71991789	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:72009741-72009916	HepG2	liver:	n/a	n/a
17	CEBPB	chr9:71994217-71994860	Hela-S3	cervix:	n/a	chr9:71994517-71994528
18	CEBPB	chr9:71977846-71978131	IMR90	lung:	n/a	chr9:71977999-71978010 chr9:71977999-71978010 chr9:71977999-71978012 chr9:71977998-71978015 chr9:71977999-71978012
19	CEBPB	chr9:71998015-71998303	IMR90	lung:	n/a	n/a
20	CEBPD	chr9:72046517-72047194	K562	blood:	n/a	n/a
21	CEBPD	chr9:72046554-72047083	K562	blood:	n/a	n/a
22	CHD2	chr9:72027645-72027655	HepG2	liver:	n/a	n/a
23	CHD2	chr9:72036898-72036903	GM12878	blood:	n/a	n/a
24	CHD2	chr9:72000655-72000779	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr9:72027662-72027923	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr9:72027660-72027810	HPAF	blood vessel:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
27	CTCF	chr9:72037191-72037417	Fibrobl	skin:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
28	CTCF	chr9:72037140-72037290	K562	blood:	n/a	chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037277-72037286 chr9:72037277-72037290
29	CTCF	chr9:72027680-72027830	HRE	kidney:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
30	CTCF	chr9:72036840-72036990	GM12872	blood:	n/a	n/a
31	CTCF	chr9:72027700-72027850	AG04450	lung:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
32	CTCF	chr9:71980294-71980326	Lung_OC	lung:	n/a	n/a
33	CTCF	chr9:72027680-72027830	Hela-S3	cervix:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
34	CTCF	chr9:72037220-72037370	GM12869	blood:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
35	CTCF	chr9:72027680-72027830	HCT-116	colon:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
36	CTCF	chr9:72027618-72027891	Gliobla	brain:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
37	CTCF	chr9:72037200-72037350	NHDF-neo	bronchial:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
38	CTCF	chr9:72027640-72027790	GM12866	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
39	CTCF	chr9:72027680-72027830	HPAF	blood vessel:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
40	CTCF	chr9:72027680-72027830	HRPEpiC	eye:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
41	CTCF	chr9:72027680-72027830	K562	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
42	CTCF	chr9:72027713-72027759	GM12892	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
43	CTCF	chr9:72027680-72027830	HA-sp	spinal cord:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
44	CTCF	chr9:72037086-72037384	A549	lung:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
45	CTCF	chr9:72027320-72027470	AG09319	gingival:	n/a	chr9:72027433-72027446
46	CTCF	chr9:72027634-72027861	A549	lung:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
47	CTCF	chr9:72043400-72043534	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:72027660-72027810	GM12875	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
49	CTCF	chr9:72037220-72037370	AG04449	skin:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
50	CTCF	chr9:72037564-72037608	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71990127-71990177	CMK	blood:	n/a
2	chr9:72027019-72027069	AG04450	lung:	fetal
3	chr9:71990127-71990177	CMK	blood:	n/a
4	chr9:72027019-72027069	AG04450	lung:	fetal
5	chr9:72027019-72027069	SKMC	muscle:	n/a
6	chr9:72046240-72046290	HAEpiC	amniotic membrane:	n/a
7	chr9:71999962-72000012	BJ	skin:	n/a
8	chr9:71990127-71990177	PFSK-1	brain:	n/a
9	chr9:72027019-72027069	RPTEC	kidney:	n/a
10	chr9:72046240-72046290	AG04450	lung:	fetal
11	chr9:72046240-72046290	SAEC	small airway:	n/a
12	chr9:72027019-72027069	Caco-2	colon:	n/a
13	chr9:72046240-72046290	HEEpiC	esophagus:	n/a
14	chr9:72027409-72027459	AG04449	skin:	fetal
15	chr9:71990127-71990177	IMR90	lung:	fetal
16	chr9:72027019-72027069	HIPEpiC	eye:	n/a
17	chr9:71990127-71990177	H1-hESC	embryonic stem cell:	embryo
18	chr9:72027409-72027459	HRE	kidney:	n/a
19	chr9:71990127-71990177	HRE	kidney:	n/a
20	chr9:71990127-71990177	NT2-D1	testis:	n/a
21	chr9:72027019-72027069	HAEpiC	amniotic membrane:	n/a
22	chr9:72027409-72027459	SAEC	small airway:	n/a
23	chr9:72046240-72046290	BJ	skin:	n/a
24	chr9:71999962-72000012	MCF-7	breast:	n/a
25	chr9:72027409-72027459	NT2-D1	testis:	n/a
26	chr9:72046240-72046290	U87	brain:	n/a
27	chr9:71990127-71990177	HCF	heart:	n/a
28	chr9:72027019-72027069	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:71999962-72000012	MCF10A-Er-Src	breast:	n/a
30	chr9:71990127-71990177	HCM	heart:	n/a
31	chr9:71999962-72000012	A549	lung:	n/a
32	chr9:72027409-72027459	PANC-1	pancreas:	n/a
33	chr9:72027409-72027459	MCF10A-Er-Src	breast:	n/a
34	chr9:72027409-72027459	GM19239	blood:	n/a
35	chr9:72027409-72027459	ECC-1	luminal epithelium:	n/a
36	chr9:72027409-72027459	HCM	heart:	n/a
37	chr9:72046240-72046290	SKMC	muscle:	n/a
38	chr9:72046240-72046290	HPAEpiC	pulmonary alveolar:	n/a
39	chr9:71990127-71990177	NH-A	brain:	n/a
40	chr9:72046240-72046290	HNPCEpiC	eye:	n/a
41	chr9:72027019-72027069	NT2-D1	testis:	n/a
42	chr9:71999962-72000012	CMK	blood:	n/a
43	chr9:72046240-72046290	NH-A	brain:	n/a
44	chr9:72027019-72027069	U87	brain:	n/a
45	chr9:72027409-72027459	HEEpiC	esophagus:	n/a
46	chr9:71999962-72000012	NH-A	brain:	n/a
47	chr9:72027409-72027459	Hela-S3	cervix:	n/a
48	chr9:72027019-72027069	HEEpiC	esophagus:	n/a
49	chr9:72027019-72027069	Jurkat	blood:	n/a
50	chr9:71990127-71990177	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
2	chr9:71975450..71977804-chr9:71980766..71982423,2	MCF-7	breast:
3	chr9:71938263..71940999-chr9:72013792..72015561,2	MCF-7	breast:
4	chr9:72036807..72037778-chr9:72056686..72057333,2	MCF-7	breast:
5	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:
6	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
7	chr9:71939667..71941572-chr9:71995013..71999921,5	MCF-7	breast:
8	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:
9	chr9:71650223..71652373-chr9:72005112..72007667,2	MCF-7	breast:
10	chr9:71995411..71998081-chr9:71998743..72001190,2	MCF-7	breast:
11	chr9:71938497..71941433-chr9:71956762..71962911,7	MCF-7	breast:
12	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
13	chr9:71650287..71651089-chr9:72027660..72028217,2	K562	blood:
14	chr9:71907137..71907714-chr9:72027328..72028069,2	MCF-7	breast:
15	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
16	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:
17	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
18	chr9:72036812..72037787-chr9:72160880..72161856,6	MCF-7	breast:
19	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
20	chr9:71907771..71908503-chr9:72004389..72005167,3	MCF-7	breast:
21	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:
22	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
23	chr9:71907874..71908421-chr9:71999104..71999650,2	MCF-7	breast:
24	chr9:72038579..72040872-chr9:72161729..72164338,3	MCF-7	breast:
25	chr9:71649254..71651788-chr9:71993811..71996699,2	MCF-7	breast:
26	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
27	chr9:71968952..71970818-chr9:71974121..71976015,2	K562	blood:
28	chr9:71968952..71970818-chr9:71974121..71976015,2	K562	blood:
29	chr9:71975450..71977804-chr9:71980766..71982423,2	MCF-7	breast:
30	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
31	chr9:71992876..71994758-chr9:72000665..72002258,2	MCF-7	breast:
32	chr9:72000714..72007830-chr9:72009954..72019278,14	MCF-7	breast:
33	chr9:71905657..71909249-chr9:72003453..72006230,4	MCF-7	breast:
34	chr9:71991329..71993145-chr9:71996881..71999330,2	MCF-7	breast:
35	chr9:71991329..71993145-chr9:71996881..71999330,2	MCF-7	breast:
36	chr8:128880231..128883034-chr9:72000789..72002321,2	MCF-7	breast:
37	chr9:71939359..71941808-chr9:72025736..72028094,2	MCF-7	breast:
38	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
39	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
40	chr9:72000502..72003339-chr9:72007156..72008716,2	K562	blood:
41	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:
42	chr9:71994976..71996926-chr9:72001185..72002908,2	MCF-7	breast:
43	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
44	chr9:71939060..71941489-chr9:72004680..72008165,4	MCF-7	breast:
45	chr9:71734709..71737586-chr9:72003144..72005018,2	MCF-7	breast:
46	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
47	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
48	chr9:71999516..72001197-chr9:72009030..72011371,2	MCF-7	breast:
49	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-5	chr9:71975774-71975860	ucscGeneNc_uc004aho_1
2	lnc-APBA1-5	chr9:71962248-71962478	ucscGeneNc_uc004aho_1
3	lnc-APBA1-1	chr9:72043544-72043637	ENSG00000243888
4	lnc-APBA1-2	chr9:72013650-72013753	XLOC_007725
5	lnc-APBA1-1	chr9:72043164-72043467	ENSG00000243888
6	lnc-APBA1-5	chr9:71980491-71980624	ucscGeneNc_uc004aho_1
7	lnc-APBA1-1	chr9:72042449-72044751	NONHSAT131778
8	lnc-APBA1-2	chr9:72009222-72010989	XLOC_007725

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

Extended variants
information (count: 3478 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3478 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4744881	chr9:71961923-71961924	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4744882	chr9:71961930-71961931	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574939689	chr9:71961957-71961958	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541579354	chr9:71961958-71961959	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114946678	chr9:71961969-71961970	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551139859	chr9:71961992-71961993	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17063873	chr9:71962023-71962024	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545773511	chr9:71962155-71962156	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564088033	chr9:71962193-71962194	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138035790	chr9:71962203-71962204	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546424780	chr9:71962272-71962273	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs185974041	chr9:71962288-71962289	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs28445381	chr9:71962308-71962309	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529059647	chr9:71962330-71962331	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs7858170	chr9:71962335-71962336	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs191487459	chr9:71962336-71962337	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs368564939	chr9:71962346-71962347	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs149502389	chr9:71962377-71962378	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs537093083	chr9:71962381-71962382	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs558968503	chr9:71962407-71962408	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs547675843	chr9:71962425-71962426	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs571193963	chr9:71962525-71962526	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367665081	chr9:71962526-71962527	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7033857	chr9:71962528-71962529	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113414610	chr9:71962535-71962536	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574937178	chr9:71962553-71962554	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148122127	chr9:71962615-71962616	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7045431	chr9:71962620-71962621	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11138262	chr9:71962651-71962652	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575294408	chr9:71962652-71962653	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545423934	chr9:71962670-71962671	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538770713	chr9:71962710-71962711	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11138263	chr9:71962715-71962716	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7044720	chr9:71962756-71962757	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561973169	chr9:71962775-71962776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529089679	chr9:71962787-71962788	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570845702	chr9:71962848-71962849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183796763	chr9:71962891-71962892	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570100491	chr9:71962914-71962915	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531015506	chr9:71962916-71962917	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142834066	chr9:71963001-71963002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72713194	chr9:71963014-71963015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187938869	chr9:71963019-71963020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146074858	chr9:71963027-71963028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575022394	chr9:71963031-71963032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568726767	chr9:71963083-71963084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535721978	chr9:71963088-71963089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557509625	chr9:71963091-71963092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191607885	chr9:71963092-71963093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545510859	chr9:71963162-71963163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71947200-71962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:71948800-71962000	Weak transcription	Pancreas	Pancrea
3	chr9:71955000-71962000	Weak transcription	Gastric	stomach
4	chr9:71955400-71981800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:71955600-71962000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:71958400-71962200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:71958600-71962000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:71959600-71962200	Weak transcription	Ovary	ovary
9	chr9:71959800-71962000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:71959800-71962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:71959800-71962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:71959800-71962000	Weak transcription	Lung	lung
13	chr9:71959800-71962000	Weak transcription	Psoas Muscle	Psoas
14	chr9:71959800-71962000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:71961200-71963000	Enhancers	Fetal Heart	heart
16	chr9:71961400-71962200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:71961600-71962200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:71961600-71962200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:71961600-71962200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:71961600-71962400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:71961600-71962400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:71961600-71962400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:71961600-71962400	Enhancers	Right Atrium	heart
24	chr9:71961600-71962400	Enhancers	Right Ventricle	heart
25	chr9:71961600-71962600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:71961600-71962600	Enhancers	NHEK	skin
27	chr9:71961600-71963200	Enhancers	HUVEC	blood vessel
28	chr9:71961800-71962400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:71961800-71962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:71961800-71962400	Enhancers	Left Ventricle	heart
31	chr9:71961800-71962400	Enhancers	HMEC	breast
32	chr9:71961800-71963000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:71962000-71962200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:71962000-71962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:71962000-71962200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr9:71962000-71962200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:71962000-71962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:71962000-71962400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:71962000-71962400	Enhancers	Esophagus	oesophagus
40	chr9:71962000-71962400	Enhancers	Placenta	Placenta
41	chr9:71962000-71962400	Enhancers	Gastric	stomach
42	chr9:71962000-71962400	Enhancers	Lung	lung
43	chr9:71962000-71962600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:71962000-71962600	Enhancers	Pancreas	Pancrea
45	chr9:71962000-71962600	Enhancers	Psoas Muscle	Psoas
46	chr9:71962000-71963000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:71962000-71963200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:71962000-71963200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:71962200-71962400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:71962200-71962600	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links