Variant report

Variant	rs73280810
Chromosome Location	chr12:45487015-45487016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60921641	1.00[AMR][1000 genomes]
rs73277030	1.00[AMR][1000 genomes]
rs73277034	1.00[AMR][1000 genomes]
rs73278953	1.00[AMR][1000 genomes]
rs73278954	1.00[AMR][1000 genomes]
rs73280807	1.00[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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45483800-45487600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:45486200-45487400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:45486200-45487600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:45486600-45487200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45486800-45487200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:45486800-45487200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:45486800-45487200	Enhancers	Adipose Nuclei	Adipose
8	chr12:45486800-45487600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:45487000-45487400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:45487000-45487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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