Variant report

Variant	rs57474116
Chromosome Location	chr1:222202481-222202482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10779458	1.00[AMR][1000 genomes]
rs3003898	1.00[AMR][1000 genomes]
rs4846730	1.00[AMR][1000 genomes]
rs55663020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61470357	1.00[AFR][1000 genomes]
rs74147368	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222200200-222203000	Enhancers	Liver	Liver
3	chr1:222200200-222204800	Weak transcription	Psoas Muscle	Psoas
4	chr1:222200400-222204600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:222202200-222205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:222202400-222204600	Weak transcription	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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