Variant report

Variant	rs10060594
Chromosome Location	chr5:114977275-114977276
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10051170	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10055339	0.83[AMR][1000 genomes]
rs10055514	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11953315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11953359	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11956382	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13164371	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13164381	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2303746	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56104517	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6594895	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9326970	0.82[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114974200-114977600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114975400-114977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:114976200-114978800	Weak transcription	Liver	Liver
4	chr5:114976800-114977400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:114976800-114977400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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