Variant report

Variant	rs8116648
Chromosome Location	chr20:22819368-22819369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11905056	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11905517	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11905809	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11907827	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908183	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11908644	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1360402	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16984620	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16984633	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16984649	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2225449	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57146184	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59740577	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61029406	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6515269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7267917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73900749	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73900751	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73900753	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8116589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8116705	1.00[AFR][1000 genomes];1.00[AMR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv510782	chr20:22806573-22907739	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22816800-22821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:22818000-22821600	Weak transcription	A549	lung
3	chr20:22818000-22823600	Weak transcription	Lung	lung
4	chr20:22818600-22821400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:22819000-22822200	Weak transcription	NHEK	skin

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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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