Variant report

Variant	rs1483569
Chromosome Location	chr2:20610308-20610309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12623511	0.83[ASN][1000 genomes]
rs1483566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483567	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483568	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57211450	0.98[ASN][1000 genomes]
rs60560480	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220011	0.82[ASN][1000 genomes]
rs73220052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220064	0.83[ASN][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20601400-20614800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20610000-20610400	Enhancers	Left Ventricle	heart
3	chr2:20610200-20610400	Weak transcription	HSMMtube	muscle
4	chr2:20610200-20611200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:20610200-20611600	Enhancers	Right Ventricle	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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