Variant report

Variant	rs5749117
Chromosome Location	chr22:30925668-30925669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914198	0.96[EUR][1000 genomes]
rs12166447	1.00[ASN][1000 genomes]
rs12170920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55674628	0.87[EUR][1000 genomes]
rs56173866	0.96[EUR][1000 genomes]
rs5749109	0.86[ASN][1000 genomes]
rs5749115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753168	0.90[ASN][1000 genomes]
rs5753178	1.00[ASN][1000 genomes]
rs5753180	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753181	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753183	1.00[ASN][1000 genomes]
rs58750696	0.81[EUR][1000 genomes]
rs59041044	0.83[EUR][1000 genomes]
rs59571413	0.88[EUR][1000 genomes]
rs5997679	0.96[EUR][1000 genomes]
rs5997681	0.96[EUR][1000 genomes]
rs60874034	0.92[EUR][1000 genomes]
rs61062709	0.96[EUR][1000 genomes]
rs61154368	0.92[EUR][1000 genomes]
rs61739203	0.87[EUR][1000 genomes]
rs61742115	0.96[EUR][1000 genomes]
rs61744139	0.92[EUR][1000 genomes]
rs61746412	0.92[EUR][1000 genomes]
rs62226963	1.00[ASN][1000 genomes]
rs6518696	0.96[ASN][1000 genomes]
rs6518697	0.96[ASN][1000 genomes]
rs7286285	0.80[EUR][1000 genomes]
rs7286703	0.87[EUR][1000 genomes]
rs7287647	0.96[EUR][1000 genomes]
rs7289242	0.96[EUR][1000 genomes]
rs7289280	0.96[EUR][1000 genomes]
rs7289848	0.91[EUR][1000 genomes]
rs7289983	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7290074	0.96[EUR][1000 genomes]
rs7292475	0.96[EUR][1000 genomes]
rs73394239	0.96[EUR][1000 genomes]
rs8135119	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8135296	0.96[EUR][1000 genomes]
rs8138701	0.94[ASN][1000 genomes]
rs8138975	0.96[EUR][1000 genomes]
rs8138980	0.92[ASN][1000 genomes]
rs886618	0.83[ASN][1000 genomes]
rs9619116	0.90[ASN][1000 genomes]
rs9621003	0.86[ASN][1000 genomes]
rs9621016	1.00[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30914400-30933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30918400-30926600	Weak transcription	Gastric	stomach
3	chr22:30922200-30927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30925400-30928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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