Variant report

Variant	rs2327416
Chromosome Location	chr20:11490824-11490825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12479989	1.00[ASN][1000 genomes]
rs12480062	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12480222	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12481138	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12481579	1.00[AMR][1000 genomes]
rs12481718	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57297338	0.90[ASN][1000 genomes]
rs59106237	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60485829	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247729	0.80[AMR][1000 genomes]
rs73247735	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73247736	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73247739	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247748	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247759	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247773	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247785	1.00[ASN][1000 genomes]
rs73250009	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73250010	0.80[AMR][1000 genomes];1.00[ASN][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	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11490800-11510400	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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