Variant report

Variant	rs2224316
Chromosome Location	chr20:22631840-22631841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1007202	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1007458	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1146365	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1203920	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203921	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203925	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203927	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203928	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203929	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203930	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203931	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203932	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203933	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203934	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203935	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203936	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203938	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203939	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203940	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203942	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203943	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203944	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1203945	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1203946	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203947	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203948	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1203949	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1203950	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12479757	0.85[ASN][1000 genomes]
rs1884742	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2145058	0.88[ASN][1000 genomes]
rs2145059	0.83[ASN][1000 genomes]
rs2145060	0.83[ASN][1000 genomes]
rs2145061	0.83[ASN][1000 genomes]
rs2180553	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2424436	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2424442	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2424443	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2424444	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424446	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2424450	0.92[ASN][1000 genomes]
rs2424454	0.86[ASN][1000 genomes]
rs2424456	0.86[ASN][1000 genomes]
rs2424457	0.81[ASN][1000 genomes]
rs2424458	0.83[ASN][1000 genomes]
rs2424459	0.83[ASN][1000 genomes]
rs4815129	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815130	0.94[ASN][1000 genomes]
rs4815131	0.88[ASN][1000 genomes]
rs4815132	0.88[ASN][1000 genomes]
rs4815134	0.86[ASN][1000 genomes]
rs4815135	0.86[ASN][1000 genomes]
rs55803110	0.83[ASN][1000 genomes]
rs6036168	0.86[ASN][1000 genomes]
rs6036169	0.83[ASN][1000 genomes]
rs6048245	0.83[ASN][1000 genomes]
rs6075931	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6082762	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6082765	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082774	0.83[ASN][1000 genomes]
rs6082778	0.83[ASN][1000 genomes]
rs6082779	0.83[ASN][1000 genomes]
rs6113758	0.83[ASN][1000 genomes]
rs6132536	0.83[ASN][1000 genomes]
rs6132537	0.83[ASN][1000 genomes]
rs6137712	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137721	0.83[ASN][1000 genomes]
rs7273357	0.83[ASN][1000 genomes]
rs73304707	0.82[ASN][1000 genomes]
rs747911	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747912	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs754855	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910956	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910957	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910960	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs975525	0.88[ASN][1000 genomes]
rs995734	0.84[AMR][1000 genomes];0.87[EUR][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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22630200-22633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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