Variant report

Variant	rs12057623
Chromosome Location	chr1:66986653-66986654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12057477	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065209	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854200	1.00[AMR][1000 genomes]
rs7521230	1.00[AMR][1000 genomes]
rs7521704	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	nsv518465	chr1:66986377-66988586	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:66983600-66987200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:66985800-66988000	Enhancers	A549	lung
3	chr1:66986000-66987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:66986000-66987200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:66986000-66987200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:66986200-66989400	Weak transcription	HepG2	liver
7	chr1:66986400-66987000	Weak transcription	Osteobl	bone

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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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