Variant report

Variant	rs8115780
Chromosome Location	chr20:53189240-53189241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16999810	0.85[AMR][1000 genomes]
rs57603708	0.85[AMR][1000 genomes]
rs6023366	0.83[AMR][1000 genomes]
rs7265834	0.85[AMR][1000 genomes]
rs7265873	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7273451	0.85[AMR][1000 genomes]
rs73911977	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53179800-53190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:53182800-53189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:53185800-53192600	Enhancers	Fetal Brain Male	brain
4	chr20:53187000-53191400	Enhancers	Fetal Brain Female	brain
5	chr20:53188000-53194000	Weak transcription	Adipose Nuclei	Adipose
6	chr20:53188200-53194400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:53188400-53189400	Weak transcription	Right Atrium	heart
8	chr20:53189200-53189800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:53189200-53190400	Enhancers	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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