Variant report

Variant	rs6138427
Chromosome Location	chr20:24926869-24926870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1056033	0.85[EUR][1000 genomes]
rs11087486	0.87[EUR][1000 genomes]
rs11699285	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625319	0.84[EUR][1000 genomes]
rs13041643	0.85[EUR][1000 genomes]
rs2092565	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2103736	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2179729	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2225459	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2235847	0.83[EUR][1000 genomes]
rs2387366	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2387572	0.85[EUR][1000 genomes]
rs34419834	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4527284	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4594518	0.87[EUR][1000 genomes]
rs4813541	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4813542	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4815337	0.89[EUR][1000 genomes]
rs4815339	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4815340	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4815351	0.85[EUR][1000 genomes]
rs4815355	0.85[EUR][1000 genomes]
rs4815357	0.83[EUR][1000 genomes]
rs6076304	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6083684	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083685	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083686	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083688	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083692	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6083699	0.85[EUR][1000 genomes]
rs6083709	0.82[EUR][1000 genomes]
rs6114992	0.82[EUR][1000 genomes]
rs6132773	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6132774	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6138406	0.87[EUR][1000 genomes]
rs6138417	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6138423	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6138425	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138426	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138431	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6138435	0.85[EUR][1000 genomes]
rs6138437	0.84[EUR][1000 genomes]
rs6138461	0.82[EUR][1000 genomes]
rs735886	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8183730	0.80[EUR][1000 genomes]
rs8183891	0.83[EUR][1000 genomes]
rs926662	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1061536	chr20:24880777-24930642	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv510783	chr20:24889192-24941933	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv524921	chr20:24897355-24932028	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv964444	chr20:24899460-24934649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762068	chr20:24908860-24974986	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24923600-24930000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:24923800-24929800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24924600-24929800	Weak transcription	Placenta	Placenta

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