Variant report

Variant	rs57406127
Chromosome Location	chr20:53185195-53185196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73911975	1.00[AFR][1000 genomes]
rs73911976	1.00[AFR][1000 genomes]
rs73913611	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2441780	chr20:53183865-53185302	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53167800-53189200	Weak transcription	Aorta	Aorta
2	chr20:53171200-53187800	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:53171400-53185800	Weak transcription	Fetal Brain Female	brain
4	chr20:53171600-53186800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:53179800-53190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:53181800-53187000	Weak transcription	Brain Germinal Matrix	brain
7	chr20:53182200-53185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:53182200-53188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:53182800-53189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr20:53183400-53186200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:53183800-53185800	Weak transcription	Fetal Brain Male	brain

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

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