Variant report

Variant	rs12067458
Chromosome Location	chr1:173005314-173005315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10912516	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912522	0.97[AFR][1000 genomes]
rs12066784	0.97[AFR][1000 genomes]
rs12070371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079981	0.97[AFR][1000 genomes]
rs16845151	1.00[MEX][hapmap]
rs55993240	1.00[AMR][1000 genomes]
rs59314260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74129510	1.00[AMR][1000 genomes]
rs74129514	0.97[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:2 , 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
2	chr1:173005200-173005400	Enhancers	hESC Derived CD56+ Mesoderm 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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