Variant report

Variant	rs55916998
Chromosome Location	chr2:56055346-56055347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11678312	0.84[EUR][1000 genomes]
rs11682872	0.93[EUR][1000 genomes]
rs11688992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11691041	0.96[EUR][1000 genomes]
rs11691472	0.93[EUR][1000 genomes]
rs11693381	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1367229	0.84[EUR][1000 genomes]
rs17047302	0.96[EUR][1000 genomes]
rs17369365	0.84[EUR][1000 genomes]
rs2163238	1.00[EUR][1000 genomes]
rs28789713	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671258	0.82[EUR][1000 genomes]
rs4671261	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55987978	0.98[EUR][1000 genomes]
rs56102096	1.00[EUR][1000 genomes]
rs57233927	1.00[EUR][1000 genomes]
rs59504093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60693760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704679	0.82[EUR][1000 genomes]
rs6705051	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6719384	0.96[EUR][1000 genomes]
rs6735306	0.96[EUR][1000 genomes]
rs72797607	0.84[EUR][1000 genomes]
rs72797613	0.84[EUR][1000 genomes]
rs72805666	0.84[EUR][1000 genomes]
rs72805668	0.84[EUR][1000 genomes]
rs72805673	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72805674	0.96[EUR][1000 genomes]
rs72805675	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72807714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807727	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807728	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807744	1.00[EUR][1000 genomes]
rs7563085	0.93[EUR][1000 genomes]
rs7581441	0.93[EUR][1000 genomes]
rs7582381	0.95[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr2:56054400-56055400	Enhancers	Osteobl	bone
2	chr2:56054400-56055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:56054400-56055600	Enhancers	A549	lung
4	chr2:56054800-56055400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:56055000-56066000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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