Variant report

Variant	rs2416395
Chromosome Location	chr5:114201286-114201287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10054099	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10068274	0.90[EUR][1000 genomes]
rs10077812	0.93[EUR][1000 genomes]
rs10085128	0.81[EUR][1000 genomes]
rs11241294	0.84[ASN][1000 genomes]
rs12186481	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12518615	0.91[EUR][1000 genomes]
rs13356109	0.83[EUR][1000 genomes]
rs1453026	0.88[EUR][1000 genomes]
rs1479343	0.82[EUR][1000 genomes]
rs1479348	0.89[EUR][1000 genomes]
rs4705685	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705687	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55726828	0.91[EUR][1000 genomes]
rs55886343	0.91[EUR][1000 genomes]
rs56381271	0.91[EUR][1000 genomes]
rs66578808	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9326935	0.88[EUR][1000 genomes]
rs988700	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114201200-114201600	Enhancers	Fetal Muscle Leg	muscle

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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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