Variant report

Variant	rs11540986
Chromosome Location	chr12:43030928-43030929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:43030888-43031010	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:43030858-43031012	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:43030846-43031007	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:43030738-43031028	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:43030733-43031072	Gliobla	brain:	n/a	n/a
6	POLR2A	chr12:43030811-43031049	GM12878	blood:	n/a	n/a
7	HEY1	chr12:43030708-43031038	HepG2	liver:	n/a	n/a
8	REST	chr12:43030896-43030989	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:43030692-43031067	MCF-7	breast:	n/a	n/a
10	MYC	chr12:43030905-43030970	MCF-7	breast:	n/a	n/a
11	TAF1	chr12:43030844-43031005	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:43030781-43030981	A549	lung:	n/a	n/a
13	MYC	chr12:43030791-43030974	MCF-7	breast:	n/a	n/a
14	MYC	chr12:43030871-43030980	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:43030869-43031005	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:43030741-43030987	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:43030881-43031017	A549	lung:	n/a	n/a
18	POLR2A	chr12:43030770-43030992	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:43030878-43030991	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:43030890-43030975	A549	lung:	n/a	n/a
21	HEY1	chr12:43030843-43031068	K562	blood:	n/a	n/a
22	TAF1	chr12:43030835-43031038	H1-hESC	embryonic stem cell:	n/a	n/a
23	HEY1	chr12:43030866-43031003	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:43030771-43031060	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:43030847-43031069	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:43030847-43031011	A549	lung:	n/a	n/a
27	CTCF	chr12:43030904-43030941	Fibrobl	skin:	n/a	n/a
28	POLR2A	chr12:43030840-43030993	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:43030722-43030980	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:43030849-43030991	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:43030830-43031015	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:43030694-43030964	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:43030887-43030981	A549	lung:	n/a	n/a
34	POLR2A	chr12:43030794-43030962	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:43030738-43030985	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257405	TF binding region
ENSG00000257687	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv558719	chr12:43020633-43031988	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv558720	chr12:43020633-43037679	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv983315	chr12:43030595-43031580	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43030600-43035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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