Variant report

Variant	rs13325247
Chromosome Location	chr3:54808561-54808562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13314992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1366034	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2217229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9311540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9821193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836083	0.85[AFR][1000 genomes]
rs9836378	0.87[AFR][1000 genomes]
rs9879439	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54806400-54808600	Enhancers	Rectal Smooth Muscle	rectum
2	chr3:54807400-54808600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:54807600-54814400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:54807600-54836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:54808400-54808600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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

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