Variant report

Variant	rs4246715
Chromosome Location	chr4:80139333-80139334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13123406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13137699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4267760	1.00[AMR][1000 genomes]
rs4305543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4333206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4443311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6534220	1.00[AFR][1000 genomes]
rs6812679	0.81[AFR][1000 genomes]
rs6847031	1.00[AMR][1000 genomes]
rs7691709	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:80131400-80147600	Weak transcription	Placenta	Placenta
2	chr4:80137000-80140400	Weak transcription	K562	blood
3	chr4:80138000-80139400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:80138600-80141400	Weak transcription	H1 BMP4 Derived Mesendoderm 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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