Variant report

Variant	esv3403093
Chromosome Location	chr12:106639622-106643920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:489)
Chromatin interactive
region (count:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:106642335-106642483	HepG2	liver:	n/a	n/a
2	BACH1	chr12:106642177-106642831	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:106642047-106642646	A549	lung:	n/a	chr12:106642156-106642169 chr12:106642135-106642144
4	BHLHE40	chr12:106641682-106641768	K562	blood:	n/a	chr12:106641740-106641756
5	BHLHE40	chr12:106641572-106641918	GM12878	blood:	n/a	chr12:106641740-106641756
6	BHLHE40	chr12:106641123-106641230	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:106641655-106641899	HepG2	liver:	n/a	chr12:106641740-106641756
8	BRCA1	chr12:106642458-106642460	HepG2	liver:	n/a	n/a
9	CCNT2	chr12:106641692-106641893	K562	blood:	n/a	n/a
10	CEBPB	chr12:106639683-106640014	IMR90	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
11	CEBPB	chr12:106639649-106640022	A549	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
12	CEBPB	chr12:106639646-106640005	Hela-S3	cervix:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
13	CEBPB	chr12:106642837-106643208	IMR90	lung:	n/a	n/a
14	CEBPB	chr12:106639596-106640084	A549	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
15	CEBPB	chr12:106639695-106639963	HepG2	liver:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
16	CEBPB	chr12:106639807-106639998	H1-hESC	embryonic stem cell:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
17	CEBPB	chr12:106642899-106643094	HepG2	liver:	n/a	n/a
18	CEBPD	chr12:106641712-106642110	HepG2	liver:	n/a	n/a
19	CEBPD	chr12:106641748-106642031	HepG2	liver:	n/a	n/a
20	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
21	CHD2	chr12:106642428-106642474	HepG2	liver:	n/a	n/a
22	CHD2	chr12:106641823-106641890	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr12:106642258-106642369	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr12:106641803-106641805	HepG2	liver:	n/a	n/a
25	CHD2	chr12:106640657-106641082	Hela-S3	cervix:	n/a	chr12:106641025-106641035
26	CHD2	chr12:106639604-106640069	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr12:106641149-106641203	GM12878	blood:	n/a	n/a
28	CREB1	chr12:106641338-106642036	A549	lung:	n/a	n/a
29	CTCF	chr12:106642200-106642350	AG04449	skin:	n/a	n/a
30	CTCF	chr12:106641240-106641390	HFF	foreskin:	n/a	n/a
31	CTCF	chr12:106641180-106641330	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr12:106641200-106641350	GM12869	blood:	n/a	n/a
33	CTCF	chr12:106641120-106641270	AG10803	skin:	n/a	n/a
34	CTCF	chr12:106641120-106641270	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr12:106642220-106642370	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr12:106641266-106641292	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:106641080-106641230	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr12:106642380-106642530	GM12874	blood:	n/a	n/a
39	CTCF	chr12:106641140-106641290	HMEC	breast:	n/a	n/a
40	CTCF	chr12:106641000-106641150	WI-38	lung:	n/a	chr12:106641027-106641040
41	CTCF	chr12:106641160-106641310	GM12873	blood:	n/a	n/a
42	CTCF	chr12:106641220-106641370	GM12865	blood:	n/a	n/a
43	CTCF	chr12:106641188-106641345	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr12:106641120-106641270	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr12:106641140-106641290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr12:106641100-106641250	HVMF	connective:	n/a	n/a
47	CTCF	chr12:106641200-106641350	BJ	skin:	n/a	n/a
48	CTCF	chr12:106641160-106641310	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr12:106641180-106641330	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr12:106641151-106641318	GM12878	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106641486-106641536	HEK293	kidney:	embryo
2	chr12:106641486-106641536	HEK293	kidney:	embryo
3	chr12:106639919-106639969	SK-N-MC	brain:	n/a
4	chr12:106641994-106642044	HL-60	blood:	n/a
5	chr12:106642360-106642410	ovcar-3	ovarian:	n/a
6	chr12:106642360-106642410	AoSMC	blood vessel:	n/a
7	chr12:106641994-106642044	HUVEC	blood vessel:	n/a
8	chr12:106642937-106642987	BE2_C	brain:	n/a
9	chr12:106641134-106641184	AG09319	gingival:	n/a
10	chr12:106642360-106642410	HRCEpiC	kidney:	n/a
11	chr12:106641486-106641536	GM12892	blood:	n/a
12	chr12:106642001-106642051	AG09319	gingival:	n/a
13	chr12:106641486-106641536	PANC-1	pancreas:	n/a
14	chr12:106642001-106642051	HCM	heart:	n/a
15	chr12:106642937-106642987	NT2-D1	testis:	n/a
16	chr12:106642001-106642051	H1-hESC	embryonic stem cell:	embryo
17	chr12:106641994-106642044	MCF10A-Er-Src	breast:	n/a
18	chr12:106639919-106639969	A549	lung:	n/a
19	chr12:106641134-106641184	HepG2	liver:	n/a
20	chr12:106641134-106641184	HUVEC	blood vessel:	n/a
21	chr12:106641994-106642044	IMR90	lung:	fetal
22	chr12:106639919-106639969	GM12878	blood:	n/a
23	chr12:106641994-106642044	ovcar-3	ovarian:	n/a
24	chr12:106642360-106642410	MCF-7	breast:	n/a
25	chr12:106642360-106642410	IMR90	lung:	fetal
26	chr12:106639919-106639969	HCPEpiC	choroid plexus:	n/a
27	chr12:106641994-106642044	AG09319	gingival:	n/a
28	chr12:106641994-106642044	SK-N-MC	brain:	n/a
29	chr12:106642937-106642987	NH-A	brain:	n/a
30	chr12:106642001-106642051	SKMC	muscle:	n/a
31	chr12:106641486-106641536	BJ	skin:	n/a
32	chr12:106639919-106639969	PFSK-1	brain:	n/a
33	chr12:106641994-106642044	HEK293	kidney:	embryo
34	chr12:106642001-106642051	HRPEpiC	eye:	n/a
35	chr12:106641994-106642044	HMEC	breast:	n/a
36	chr12:106641486-106641536	HIPEpiC	eye:	n/a
37	chr12:106642937-106642987	BJ	skin:	n/a
38	chr12:106641008-106641058	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:106639919-106639969	AG04449	skin:	fetal
40	chr12:106641008-106641058	HCF	heart:	n/a
41	chr12:106639919-106639969	HRE	kidney:	n/a
42	chr12:106641486-106641536	AG09319	gingival:	n/a
43	chr12:106641008-106641058	U87	brain:	n/a
44	chr12:106642937-106642987	RPTEC	kidney:	n/a
45	chr12:106641486-106641536	HMEC	breast:	n/a
46	chr12:106641486-106641536	NB4	blood:	n/a
47	chr12:106642937-106642987	SK-N-SH_RA	brain:	n/a
48	chr12:106641134-106641184	AoSMC	blood vessel:	n/a
49	chr12:106641134-106641184	U87	brain:	n/a
50	chr12:106642937-106642987	ProgFib	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106637683..106639757-chr12:106691523..106693781,3	MCF-7	breast:
2	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
3	chr12:106641882..106643930-chr12:106685440..106687264,2	MCF-7	breast:
4	chr12:106640861..106643735-chr12:106674267..106678317,3	MCF-7	breast:
5	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
6	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:
7	chr12:106641570..106642137-chr12:106697112..106697741,2	MCF-7	breast:
8	chr12:106642113..106643655-chr12:106665361..106667243,2	MCF-7	breast:
9	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
10	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
11	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:
12	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
13	chr12:106640559..106643459-chr12:107485293..107487296,2	K562	blood:
14	chr12:106636406..106639904-chr12:106695865..106698141,3	MCF-7	breast:
15	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
16	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-1	chr12:106643468-106643556	NONHSAT030477
2	lnc-NUAK1-2	chr12:106640493-106640734	ENSG00000258355.1
3	lnc-TCP11L2-1	chr12:106642520-106642537	XLOC_009869
4	lnc-TCP11L2-1	chr12:106643487-106643556	XLOC_009869

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000258355	TF binding region
CKAP4	CpG island
ENSG00000258355	CpG island
ENSG00000013503	chromatin interactions
ENSG00000074590	chromatin interactions
ENSG00000008405	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000166046	chromatin interactions
ENSG00000136026	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000257548	chromatin interactions
ENSG00000238609	chromatin interactions
PTP4A1	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559132187	chr12:106639624-106639625	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs528225242	chr12:106639652-106639653	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs145024788	chr12:106639673-106639674	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs565076116	chr12:106639781-106639782	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs149853104	chr12:106639794-106639795	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs377554519	chr12:106639834-106639835	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs544129023	chr12:106639846-106639847	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs550334850	chr12:106639854-106639855	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs568872298	chr12:106639866-106639867	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs76420117	chr12:106639869-106639870	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs185562196	chr12:106639870-106639871	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs546675000	chr12:106639873-106639874	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs536249857	chr12:106639920-106639921	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs138812462	chr12:106640041-106640042	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs142226060	chr12:106640065-106640066	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs535281750	chr12:106640086-106640087	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs142069089	chr12:106640116-106640117	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs190435954	chr12:106640159-106640160	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs2020034	chr12:106640221-106640222	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs571880890	chr12:106640243-106640244	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs556136843	chr12:106640263-106640264	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs557094241	chr12:106640286-106640287	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs11112916	chr12:106640346-106640347	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs573939620	chr12:106640367-106640368	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs370589840	chr12:106640421-106640422	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs150847080	chr12:106640457-106640458	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs563788133	chr12:106640462-106640463	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs553098626	chr12:106640499-106640500	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs12830330	chr12:106640518-106640519	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111606181	chr12:106640575-106640576	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs544841292	chr12:106640579-106640580	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs541292231	chr12:106640605-106640606	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs79281181	chr12:106640615-106640616	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs193022251	chr12:106640634-106640635	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs529504305	chr12:106640654-106640655	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs73384383	chr12:106640668-106640669	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144313161	chr12:106640687-106640688	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs529664376	chr12:106640719-106640720	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs372650098	chr12:106640727-106640728	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs546615555	chr12:106640773-106640774	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs566611301	chr12:106640898-106640899	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs532228112	chr12:106640979-106640980	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs1148422	chr12:106640981-106640982	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184719248	chr12:106641030-106641031	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs537355660	chr12:106641039-106641040	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs374496390	chr12:106641075-106641076	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs368446858	chr12:106641101-106641102	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs201998196	chr12:106641117-106641118	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs200990380	chr12:106641198-106641199	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs188646596	chr12:106641204-106641205	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:106634200-106639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:106634200-106639800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:106635600-106639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:106635800-106639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:106637200-106639800	Genic enhancers	Fetal Muscle Leg	muscle
10	chr12:106637600-106639800	Genic enhancers	Fetal Stomach	stomach
11	chr12:106637600-106640000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:106638000-106639800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:106638000-106640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:106638000-106640000	Enhancers	Stomach Mucosa	stomach
16	chr12:106638000-106640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:106638200-106639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:106638200-106639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:106638200-106639800	Enhancers	Fetal Heart	heart
20	chr12:106638200-106639800	Weak transcription	Fetal Intestine Large	intestine
21	chr12:106638200-106640000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:106638400-106639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:106638400-106639800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:106638400-106639800	Enhancers	Pancreas	Pancrea
25	chr12:106638400-106640000	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr12:106638400-106640000	Enhancers	Ovary	ovary
27	chr12:106638400-106640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:106638400-106640200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:106638600-106639800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:106638600-106639800	Enhancers	Aorta	Aorta
31	chr12:106638600-106639800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:106638600-106639800	Enhancers	Fetal Brain Male	brain
33	chr12:106638600-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:106638600-106640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr12:106638600-106640600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:106638600-106640600	Enhancers	Small Intestine	intestine
37	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
38	chr12:106638800-106639800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:106638800-106639800	Enhancers	Brain Angular Gyrus	brain
40	chr12:106638800-106639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:106638800-106639800	Enhancers	Fetal Kidney	kidney
42	chr12:106638800-106639800	Genic enhancers	Fetal Lung	lung
43	chr12:106638800-106640000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:106638800-106640000	Enhancers	Brain Anterior Caudate	brain
45	chr12:106638800-106640000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:106638800-106640200	Enhancers	Gastric	stomach
47	chr12:106638800-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:106638800-106640400	Enhancers	Brain Substantia Nigra	brain
49	chr12:106638800-106640400	Enhancers	Placenta	Placenta
50	chr12:106638800-106640400	Enhancers	Psoas Muscle	Psoas

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