Variant report

Variant	rs12475693
Chromosome Location	chr2:169753595-169753596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr2:169753500-169754360	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169652703..169655087-chr2:169751212..169754085,2	K562	blood:
2	chr2:169751710..169753993-chr2:169757604..169759701,2	MCF-7	breast:
3	chr2:169747099..169750807-chr2:169751423..169754919,4	K562	blood:
4	chr2:169753175..169756004-chr2:169757338..169760824,3	K562	blood:
5	chr2:169642167..169644932-chr2:169752959..169754897,2	K562	blood:
6	chr2:169753175..169756004-chr2:169757338..169760824,4	K562	blood:

No data

No data

No data

Variant related genes	Relation type
G6PC2	TF binding region
ENSG00000152254	Chromatin interaction
ENSG00000227617	Chromatin interaction
ENSG00000163072	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12475700	0.85[AFR][1000 genomes]
rs1879696	0.83[AFR][1000 genomes]
rs1969376	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2232316	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517413	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6730651	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606215	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169747000-169757600	Weak transcription	Pancreas	Pancrea
2	chr2:169751600-169753600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:169753200-169753600	Enhancers	K562	blood
4	chr2:169753200-169753600	Enhancers	Monocytes-CD14+_RO01746	blood

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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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