Variant report

Variant	rs12070374
Chromosome Location	chr1:173003560-173003561
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10912516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912522	0.98[AFR][1000 genomes]
rs12066784	0.98[AFR][1000 genomes]
rs12067458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070371	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079981	0.98[AFR][1000 genomes]
rs55993240	1.00[AMR][1000 genomes]
rs59314260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74129510	1.00[AMR][1000 genomes]
rs74129514	0.98[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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:172995800-173008200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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