Variant report

Variant	rs4327511
Chromosome Location	chr4:80148633-80148634
allele	A/T
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]
rs4246715	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]
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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80147200-80148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:80147400-80151600	Weak transcription	K562	blood
3	chr4:80148400-80148800	Enhancers	HSMM	muscle
4	chr4:80148400-80150000	Enhancers	Fetal Lung	lung
5	chr4:80148600-80149200	Enhancers	Liver	Liver
6	chr4:80148600-80150000	Enhancers	Muscle Satellite Cultured Cells	--

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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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