Variant report

Variant	rs4239370
Chromosome Location	chr18:29366443-29366444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1482515	0.81[AMR][1000 genomes]
rs1842785	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1905159	0.86[AMR][1000 genomes]
rs3912315	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4799318	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes]
rs4799601	0.81[AMR][1000 genomes]
rs594334	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506940	0.83[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs7227127	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233853	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9783847	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9956624	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4239370	PFN2	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29363200-29375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29366200-29366600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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