Variant report

Variant	rs56270958
Chromosome Location	chr5:167039458-167039459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17068860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57147240	1.00[EUR][1000 genomes]
rs58457583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58728571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59381916	1.00[EUR][1000 genomes]
rs59710284	1.00[AMR][1000 genomes]
rs6869063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73801284	1.00[AMR][1000 genomes]
rs73801291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73801294	1.00[EUR][1000 genomes]
rs73801296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73803903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73803913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7731493	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:167023400-167048400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167036400-167039600	Weak transcription	NHEK	skin
3	chr5:167037400-167041200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167037400-167041400	Weak transcription	HSMM	muscle
5	chr5:167037400-167041600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:167039200-167041600	Enhancers	Fetal Lung	lung

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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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