Variant report

Variant	rs16999757
Chromosome Location	chr20:53166372-53166373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16999731	1.00[ASW][hapmap]
rs58707909	1.00[AMR][1000 genomes]
rs59138982	1.00[AMR][1000 genomes]
rs6023385	1.00[CHD][hapmap]
rs6023409	1.00[CHB][hapmap]
rs60578948	1.00[AMR][1000 genomes]
rs6091938	1.00[CHD][hapmap]
rs6098129	1.00[CHD][hapmap]
rs61478556	1.00[AMR][1000 genomes]
rs6512974	1.00[AMR][1000 genomes]
rs6512975	1.00[AMR][1000 genomes]
rs7268501	1.00[CHD][hapmap]
rs73276991	1.00[AMR][1000 genomes]
rs73276995	1.00[AMR][1000 genomes]
rs73911975	1.00[AMR][1000 genomes]
rs73911976	1.00[AMR][1000 genomes]
rs8118345	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8125542	1.00[CHD][hapmap]

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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53162200-53172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr20:53162400-53171600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr20:53164000-53167800	Enhancers	Fetal Brain Female	brain
4	chr20:53165200-53166800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:53165200-53168400	Enhancers	Fetal Brain Male	brain
6	chr20:53165400-53166400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:53165400-53166800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:53165400-53167400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:53165600-53167200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:53165800-53167800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:53166000-53166600	Enhancers	NH-A	brain
12	chr20:53166000-53167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:53166000-53167800	Enhancers	Osteobl	bone

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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