Variant report

Variant	rs7427630
Chromosome Location	chr3:54345006-54345007
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11130416	0.94[EUR][1000 genomes]
rs11130417	0.94[EUR][1000 genomes]
rs4928040	0.94[EUR][1000 genomes]
rs6445645	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6445648	0.95[EUR][1000 genomes]
rs6784315	0.94[EUR][1000 genomes]
rs6810202	0.89[EUR][1000 genomes]
rs7429094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7431577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7434239	0.92[EUR][1000 genomes]
rs7618315	0.89[EUR][1000 genomes]
rs7627905	0.85[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7632823	0.85[CHB][hapmap]
rs7634811	0.89[EUR][1000 genomes]
rs7652209	0.95[EUR][1000 genomes]
rs9683195	0.92[EUR][1000 genomes]
rs9849660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863855	0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9879885	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	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
3	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:54338400-54345400	Weak transcription	Fetal Lung	lung
2	chr3:54344000-54347600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:54344000-54360800	Weak transcription	Psoas Muscle	Psoas
4	chr3:54345000-54345600	Enhancers	Right Atrium	heart

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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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