Variant report

Variant	rs1477729
Chromosome Location	chr20:52879623-52879624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1293130	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1293133	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1382016	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1382017	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1477724	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2061721	0.90[AFR][1000 genomes]
rs28512221	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4811498	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6023078	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6091842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6097869	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6097871	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6097884	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6127152	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
2	chr20:52874200-52883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:52874200-52884000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:52878600-52880200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr20:52878800-52880000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:52878800-52881200	Enhancers	Fetal Lung	lung
7	chr20:52879200-52880400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:52879400-52879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:52879400-52880000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:52879600-52879800	Enhancers	Ovary	ovary
11	chr20:52879600-52879800	Enhancers	NHLF	lung
12	chr20:52879600-52879800	Enhancers	Osteobl	bone
13	chr20:52879600-52880000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:52879600-52881000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:52879600-52881200	Enhancers	Fetal Stomach	stomach

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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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