Variant report

Variant	rs57442059
Chromosome Location	chr2:58470288-58470289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17049333	1.00[AMR][1000 genomes]
rs17049337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049414	1.00[AMR][1000 genomes]
rs17049422	0.80[AFR][1000 genomes]
rs2030236	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60956789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62140034	0.80[AFR][1000 genomes]
rs62141871	0.80[AFR][1000 genomes]
rs6739344	1.00[AMR][1000 genomes]
rs7566805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7577402	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:58468600-58471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:58469000-58470400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:58469000-58470800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:58469800-58470400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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