Variant report

Variant	rs55650630
Chromosome Location	chr12:56798422-56798423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11171818	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11171819	0.81[AMR][1000 genomes]
rs11171822	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11171823	0.85[AFR][1000 genomes]
rs11830379	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11833064	0.82[AFR][1000 genomes]
rs12313141	0.81[AMR][1000 genomes]
rs12318887	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12322356	0.81[AMR][1000 genomes]
rs28828444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55728562	0.83[AFR][1000 genomes]
rs55818846	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57387549	0.81[AMR][1000 genomes]
rs59286728	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7131916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324353	0.81[AMR][1000 genomes]
rs73324358	0.81[AMR][1000 genomes]
rs73324365	0.83[AFR][1000 genomes]
rs73324376	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954200	0.81[AMR][1000 genomes]
rs7960824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969172	0.80[AFR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56797200-56814200	Weak transcription	iPS DF 19.11 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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