Variant report

Variant	rs28404865
Chromosome Location	chr20:52878748-52878749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13039589	0.91[EUR][1000 genomes]
rs13039601	0.91[EUR][1000 genomes]
rs13042527	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13045276	0.80[EUR][1000 genomes]
rs13045683	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1477725	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17222492	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17313921	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1964861	0.85[EUR][1000 genomes]
rs2023531	0.89[EUR][1000 genomes]
rs2797968	0.81[EUR][1000 genomes]
rs28435070	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28515941	0.80[EUR][1000 genomes]
rs28526259	0.85[EUR][1000 genomes]
rs28610574	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28676447	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28707344	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28795767	0.84[EUR][1000 genomes]
rs292129	0.84[EUR][1000 genomes]
rs6013946	0.90[EUR][1000 genomes]
rs6023080	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6023083	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
2	chr20:52874000-52879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:52874200-52879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:52874200-52883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:52874200-52884000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:52874400-52879400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:52874400-52879600	Weak transcription	Osteobl	bone
8	chr20:52878600-52880200	Enhancers	Monocytes-CD14+_RO01746	blood

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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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