Variant report

Variant	rs12470310
Chromosome Location	chr2:39808264-39808265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11680972	0.86[EUR][1000 genomes]
rs11686518	0.81[EUR][1000 genomes]
rs13031765	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17474808	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28812028	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4992380	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544235	0.80[ASN][1000 genomes]
rs6706561	0.81[EUR][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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:39799000-39810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:39799400-39811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:39799600-39820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:39808200-39808400	ZNF genes & repeats	Liver	Liver
5	chr2:39808200-39808400	ZNF genes & repeats	HepG2	liver

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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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