Variant report

Variant	nsv1051597
Chromosome Location	chr12:12513364-12541869
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	chr12:12529544-12529933	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:12537535-12538151	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:12534087-12534699	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:12529578-12529897	K562	blood:	n/a	n/a
5	BCLAF1	chr12:12529473-12530001	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:12537880-12538299	HepG2	liver:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
7	BHLHE40	chr12:12537973-12538300	GM12878	blood:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
8	BHLHE40	chr12:12540555-12540803	K562	blood:	n/a	n/a
9	BHLHE40	chr12:12537916-12538205	HepG2	liver:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
10	BHLHE40	chr12:12537940-12538255	K562	blood:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
11	BHLHE40	chr12:12532622-12533229	GM12878	blood:	n/a	n/a
12	BRCA1	chr12:12529604-12529918	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr12:12540708-12540758	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr12:12533035-12533038	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr12:12540482-12540872	HCT-116	colon:	n/a	n/a
16	CEBPB	chr12:12526280-12526626	HepG2	liver:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
17	CEBPB	chr12:12527785-12527930	Hela-S3	cervix:	n/a	chr12:12527840-12527851
18	CEBPB	chr12:12519053-12519362	A549	lung:	n/a	chr12:12519199-12519210
19	CEBPB	chr12:12527754-12527951	H1-hESC	embryonic stem cell:	n/a	chr12:12527840-12527851
20	CEBPB	chr12:12529673-12530024	HepG2	liver:	n/a	chr12:12529899-12529910
21	CEBPB	chr12:12527727-12527992	K562	blood:	n/a	chr12:12527840-12527851
22	CEBPB	chr12:12534230-12534409	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:12527730-12527985	IMR90	lung:	n/a	chr12:12527840-12527851
24	CEBPB	chr12:12527678-12528055	MCF-7	breast:	n/a	chr12:12527840-12527851
25	CEBPB	chr12:12534164-12534454	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:12519056-12519374	Hela-S3	cervix:	n/a	chr12:12519199-12519210
27	CEBPB	chr12:12526291-12526638	K562	blood:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
28	CEBPB	chr12:12519064-12519378	IMR90	lung:	n/a	chr12:12519199-12519210
29	CEBPB	chr12:12526386-12526600	H1-hESC	embryonic stem cell:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
30	CEBPB	chr12:12526302-12526607	A549	lung:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
31	CEBPB	chr12:12527667-12527988	HepG2	liver:	n/a	chr12:12527840-12527851
32	CEBPB	chr12:12527717-12527896	HepG2	liver:	n/a	chr12:12527840-12527851
33	CEBPB	chr12:12519119-12519337	HepG2	liver:	n/a	chr12:12519199-12519210
34	CEBPB	chr12:12532965-12533237	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr12:12526293-12526610	IMR90	lung:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
36	CEBPB	chr12:12529624-12530025	Hela-S3	cervix:	n/a	chr12:12529899-12529910
37	CEBPB	chr12:12527724-12527972	A549	lung:	n/a	chr12:12527840-12527851
38	CHD1	chr12:12537879-12537922	GM12878	blood:	n/a	n/a
39	CHD2	chr12:12532981-12533202	GM12878	blood:	n/a	n/a
40	CHD2	chr12:12537649-12537747	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr12:12529679-12529807	GM13976	blood:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
42	CTCF	chr12:12529668-12529855	SK-N-SH_RA	brain:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
43	CTCF	chr12:12529700-12529850	GM12865	blood:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
44	CTCF	chr12:12529660-12529810	GM12871	blood:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
45	CTCF	chr12:12529720-12529870	GM12875	blood:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
46	CTCF	chr12:12538524-12538586	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr12:12529640-12529790	HCPEpiC	choroid plexus:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
48	CTCF	chr12:12529700-12529850	WERI-Rb-1	eye:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765
49	CTCF	chr12:12527920-12528070	GM12878	blood:	n/a	n/a
50	CTCF	chr12:12529660-12529810	HCPEpiC	choroid plexus:	n/a	chr12:12529743-12529759 chr12:12529742-12529760 chr12:12529744-12529765

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12514228-12514278	CMK	blood:	n/a
2	chr12:12518875-12518925	HAEpiC	amniotic membrane:	n/a
3	chr12:12518875-12518925	H1-hESC	embryonic stem cell:	embryo
4	chr12:12514228-12514278	RPTEC	kidney:	n/a
5	chr12:12518875-12518925	GM06990	blood:	n/a
6	chr12:12518875-12518925	HEEpiC	esophagus:	n/a
7	chr12:12518875-12518925	Hela-S3	cervix:	n/a
8	chr12:12514228-12514278	AG09309	skin:	n/a
9	chr12:12514228-12514278	ProgFib	skin:	n/a
10	chr12:12514228-12514278	GM12891	blood:	n/a
11	chr12:12514228-12514278	T-47D	breast:	n/a
12	chr12:12518875-12518925	HL-60	blood:	n/a
13	chr12:12514228-12514278	HEK293	kidney:	embryo
14	chr12:12514228-12514278	H1-hESC	embryonic stem cell:	embryo
15	chr12:12518875-12518925	SKMC	muscle:	n/a
16	chr12:12518875-12518925	HRE	kidney:	n/a
17	chr12:12514228-12514278	Caco-2	colon:	n/a
18	chr12:12514228-12514278	GM19239	blood:	n/a
19	chr12:12518875-12518925	AG10803	skin:	n/a
20	chr12:12518875-12518925	HCM	heart:	n/a
21	chr12:12518875-12518925	PrEC	prostate:	n/a
22	chr12:12514228-12514278	HIPEpiC	eye:	n/a
23	chr12:12514228-12514278	HepG2	liver:	n/a
24	chr12:12514228-12514278	NHBE	bronchial:	n/a
25	chr12:12518875-12518925	HRPEpiC	eye:	n/a
26	chr12:12518875-12518925	GM12892	blood:	n/a
27	chr12:12514228-12514278	GM06990	blood:	n/a
28	chr12:12518875-12518925	BE2_C	brain:	n/a
29	chr12:12518875-12518925	HNPCEpiC	eye:	n/a
30	chr12:12514228-12514278	Hela-S3	cervix:	n/a
31	chr12:12514228-12514278	AoSMC	blood vessel:	n/a
32	chr12:12514228-12514278	SK-N-SH_RA	brain:	n/a
33	chr12:12514228-12514278	PANC-1	pancreas:	n/a
34	chr12:12514228-12514278	HCF	heart:	n/a
35	chr12:12518875-12518925	GM12878	blood:	n/a
36	chr12:12518875-12518925	SK-N-SH_RA	brain:	n/a
37	chr12:12518875-12518925	IMR90	lung:	fetal
38	chr12:12514228-12514278	HRCEpiC	kidney:	n/a
39	chr12:12514228-12514278	AG04450	lung:	fetal
40	chr12:12514228-12514278	Jurkat	blood:	n/a
41	chr12:12514228-12514278	BJ	skin:	n/a
42	chr12:12514228-12514278	IMR90	lung:	fetal
43	chr12:12518875-12518925	NHDF-neo	bronchial:	n/a
44	chr12:12514228-12514278	HCPEpiC	choroid plexus:	n/a
45	chr12:12514228-12514278	LNCaP	prostate:	n/a
46	chr12:12518875-12518925	ECC-1	luminal epithelium:	n/a
47	chr12:12514228-12514278	SK-N-MC	brain:	n/a
48	chr12:12514228-12514278	MCF10A-Er-Src	breast:	n/a
49	chr12:12514228-12514278	GM12892	blood:	n/a
50	chr12:12518875-12518925	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12529317..12530147-chr12:12808561..12809309,3	K562	blood:
2	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
3	chr12:12510200..12513346-chr12:12523638..12526361,3	K562	blood:
4	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
5	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
6	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
7	chr12:12526769..12529809-chr12:12714703..12717328,3	K562	blood:
8	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
9	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
10	chr12:12509841..12511521-chr12:12518131..12519993,2	MCF-7	breast:
11	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
12	chr12:12508560..12511489-chr12:12514245..12515884,2	MCF-7	breast:
13	chr12:12509044..12511145-chr12:12512603..12514183,2	MCF-7	breast:
14	chr12:12529157..12530332-chr12:12857224..12858201,8	MCF-7	breast:
15	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
16	chr12:12510093..12511651-chr12:12512844..12515772,2	K562	blood:
17	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
18	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
19	chr12:12525607..12527513-chrX:39488072..39490988,2	MCF-7	breast:
20	chr12:12529613..12530179-chr12:12808665..12809480,2	MCF-7	breast:
21	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
22	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
23	chr12:12519017..12521870-chr12:12849231..12851723,2	K562	blood:
24	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
25	chr12:12508497..12510863-chr12:12526548..12530591,3	MCF-7	breast:
26	chr12:12518944..12521734-chr12:12847277..12849075,2	MCF-7	breast:
27	chr12:12509503..12512182-chr12:12513037..12516438,6	MCF-7	breast:
28	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
29	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
30	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
31	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
32	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
33	chr12:12509843..12512441-chr12:12520561..12523436,3	MCF-7	breast:
34	chr12:12509354..12513359-chr12:12517458..12522131,6	K562	blood:
35	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
36	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
37	chr12:12524724..12527440-chr12:12848940..12850671,2	MCF-7	breast:
38	chr12:12529065..12530274-chr12:12856801..12858158,7	K562	blood:
39	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
40	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
41	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
42	chr12:12508565..12513346-chr12:12518905..12526361,9	K562	blood:
43	chr12:12523614..12525450-chr12:12713286..12715120,2	MCF-7	breast:

Variant related genes	Relation type
LOH12CR2	TF binding region
LOH12CR2	CpG island
ENSG00000111276	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000111266	chromatin interactions

Extended variants
information (count: 1177 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538305618	chr12:12513368-12513369	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556701565	chr12:12513396-12513397	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs574846994	chr12:12513399-12513400	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs182317100	chr12:12513413-12513414	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs185609038	chr12:12513450-12513451	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs572727435	chr12:12513465-12513466	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs35965943	chr12:12513502-12513503	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs141397313	chr12:12513548-12513549	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs564669044	chr12:12513570-12513571	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs189279826	chr12:12513579-12513580	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs544680609	chr12:12513610-12513611	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs137879538	chr12:12513615-12513616	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs550437545	chr12:12513656-12513657	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538716411	chr12:12513683-12513684	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562251390	chr12:12513695-12513696	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs563252436	chr12:12513717-12513718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529631069	chr12:12513718-12513719	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs60117219	chr12:12513731-12513732	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186259153	chr12:12513741-12513742	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190102972	chr12:12513838-12513839	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565704654	chr12:12513855-12513856	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113551213	chr12:12513870-12513871	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530533170	chr12:12513879-12513880	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538051065	chr12:12513944-12513945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs12422449	chr12:12514024-12514025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150110774	chr12:12514034-12514035	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs11054846	chr12:12514050-12514051	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138544106	chr12:12514064-12514065	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs554172494	chr12:12514082-12514083	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375972975	chr12:12514105-12514106	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572364654	chr12:12514118-12514119	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140151931	chr12:12514145-12514146	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368305277	chr12:12514156-12514157	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558171138	chr12:12514172-12514173	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs34063679	chr12:12514198-12514199	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs3741795	chr12:12514203-12514204	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144877374	chr12:12514215-12514216	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs577623740	chr12:12514219-12514220	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs372230725	chr12:12514220-12514221	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200415074	chr12:12514228-12514229	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368141493	chr12:12514234-12514235	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201288073	chr12:12514255-12514256	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs562239513	chr12:12514259-12514260	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs371653734	chr12:12514263-12514264	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs181291805	chr12:12514295-12514296	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149400513	chr12:12514296-12514297	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368910873	chr12:12514325-12514326	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560058000	chr12:12514378-12514379	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144763041	chr12:12514455-12514456	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185806839	chr12:12514462-12514463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12515800	Weak transcription	Lung	lung
2	chr12:12510800-12518000	Weak transcription	Gastric	stomach
3	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:12511000-12515600	Weak transcription	Ovary	ovary
7	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
8	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:12511400-12513400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:12511400-12513600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:12511400-12515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:12511400-12515800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:12511400-12518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:12511400-12518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:12511400-12518800	Weak transcription	Placenta	Placenta
17	chr12:12511400-12519000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:12511400-12519000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:12511400-12519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:12511400-12519000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
22	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
24	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
25	chr12:12511400-12540600	Weak transcription	HSMM	muscle
26	chr12:12511600-12514200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:12511600-12514400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:12511600-12515600	Weak transcription	Fetal Stomach	stomach
29	chr12:12511600-12516400	Weak transcription	Right Ventricle	heart
30	chr12:12511600-12517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:12511600-12518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:12511600-12518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:12511600-12518000	Weak transcription	Aorta	Aorta
34	chr12:12511600-12518600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:12511600-12518800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:12511600-12518800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:12511600-12518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:12511600-12519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:12511600-12532800	Weak transcription	Osteobl	bone
42	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:12511800-12513400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:12511800-12514200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:12511800-12514200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:12511800-12514600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:12511800-12515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:12511800-12516800	Weak transcription	A549	lung
50	chr12:12511800-12518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links