Variant report

Variant	rs7303708
Chromosome Location	chr12:56756875-56756876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:56756138-56756938	HepG2	liver:	n/a	n/a
2	NFIC	chr12:56756247-56756930	HepG2	liver:	n/a	n/a
3	TEAD4	chr12:56756356-56756894	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:56756341-56756930	HepG2	liver:	n/a	n/a
5	SP1	chr12:56756364-56756892	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:56756353-56756882	HepG2	liver:	n/a	n/a
7	MYBL2	chr12:56756301-56756947	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:56756286-56756925	HepG2	liver:	n/a	n/a
9	FOXA1	chr12:56756343-56756889	HepG2	liver:	n/a	n/a
10	ELF1	chr12:56756352-56756915	HepG2	liver:	n/a	chr12:56756410-56756421

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56692272..56694110-chr12:56755146..56757372,2	K562	blood:
2	chr12:56726570..56729841-chr12:56754004..56757409,3	MCF-7	breast:
3	chr12:56726408..56728632-chr12:56756602..56759290,3	K562	blood:
4	chr12:56752238..56754707-chr12:56756251..56758252,3	MCF-7	breast:
5	chr12:56726408..56728632-chr12:56756602..56759290,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
APOF	TF binding region
STAT2	TF binding region
ENSG00000135473	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000062485	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11575216	1.00[EUR][1000 genomes]
rs60484388	1.00[EUR][1000 genomes]
rs7304678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326276	1.00[EUR][1000 genomes]
rs9737784	1.00[EUR][1000 genomes]
rs9739600	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56755600-56760400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:56756800-56757000	Weak transcription	Liver	Liver
3	chr12:56756800-56761200	Enhancers	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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