Variant report

Variant	rs58020380
Chromosome Location	chr2:39184547-39184548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10173563	0.94[ASN][1000 genomes]
rs60703378	0.82[ASN][1000 genomes]
rs60718983	1.00[AMR][1000 genomes]
rs6751306	0.94[ASN][1000 genomes]
rs6753426	0.94[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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
4	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
5	chr2:39175000-39186600	Weak transcription	Ovary	ovary
6	chr2:39175000-39187000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:39175200-39186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39176600-39186600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:39181600-39184800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:39184000-39184600	Enhancers	K562	blood
11	chr2:39184200-39185600	Strong transcription	Breast Myoepithelial Primary Cells	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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