Variant report

Variant	rs1594308
Chromosome Location	chr2:56054052-56054053
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10496055	0.81[AFR][1000 genomes]
rs11903784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1430201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047300	0.93[AFR][1000 genomes]
rs2082141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34042197	0.91[AFR][1000 genomes]
rs57692404	1.00[AFR][1000 genomes]
rs58827055	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	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56050400-56054400	Weak transcription	A549	lung
2	chr2:56054000-56055200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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