Variant report

Variant	rs5014254
Chromosome Location	chr20:53600637-53600638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034095	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1499865	0.82[EUR][1000 genomes]
rs159079	0.87[ASN][1000 genomes]
rs34395355	0.91[EUR][1000 genomes]
rs4426578	0.89[EUR][1000 genomes]
rs58823255	0.80[AMR][1000 genomes]
rs6014246	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6023759	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6023771	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6023772	0.85[AMR][1000 genomes]
rs6023774	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6092021	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6098360	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6098364	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6098366	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6123444	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6123448	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6127346	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6127366	0.82[AMR][1000 genomes]
rs6127367	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs928166	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9679866	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	esv1814522	chr20:53592333-53604668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1807499	chr20:53598394-53604668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1809872	chr20:53598394-53604668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1810486	chr20:53598394-53604668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1813031	chr20:53598394-53604668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1815092	chr20:53598394-53604668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3425300	chr20:53600247-53734239	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53599600-53600800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:53599800-53600800	Weak transcription	Fetal Kidney	kidney

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