Variant report

Variant	rs1158165
Chromosome Location	chr20:23578066-23578067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1158166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1983713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1983714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2424568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983637	0.83[AFR][1000 genomes]
rs3004138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004146	0.83[AFR][1000 genomes]
rs911126	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs911127	0.83[AFR][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	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23576800-23578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:23577000-23578200	Enhancers	HMEC	breast
3	chr20:23577200-23578400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:23577400-23578200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:23578000-23578600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr20:23578000-23579200	Enhancers	Primary monocytes fromperipheralblood	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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