Variant report

Variant	rs56729627
Chromosome Location	chr3:138900200-138900201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138899218..138902119-chr3:138905837..138907445,2	K562	blood:
2	chr3:138899218..138900928-chr3:138905561..138907337,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10804664	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10935306	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10935312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706018	0.83[ASN][1000 genomes]
rs11707723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919334	0.87[EUR][1000 genomes]
rs11919416	0.83[EUR][1000 genomes]
rs11924028	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11927735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928890	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12629175	0.83[ASN][1000 genomes]
rs12629248	0.83[ASN][1000 genomes]
rs12629439	1.00[ASN][1000 genomes]
rs12630223	0.82[ASN][1000 genomes]
rs12630262	0.83[ASN][1000 genomes]
rs12630333	0.83[ASN][1000 genomes]
rs12631401	0.92[ASN][1000 genomes]
rs12632107	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12632125	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12635620	0.83[ASN][1000 genomes]
rs12636332	0.83[ASN][1000 genomes]
rs12636430	0.83[ASN][1000 genomes]
rs12639194	0.93[ASN][1000 genomes]
rs13067012	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13068617	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13069247	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13069303	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13069778	0.98[ASN][1000 genomes]
rs13074105	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13074693	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13075082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13083364	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13086745	0.82[EUR][1000 genomes]
rs13089589	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13097708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100625	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1554563	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554564	1.00[ASN][1000 genomes]
rs1554565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17314607	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2737737	0.97[ASN][1000 genomes]
rs35781224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365652	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4429660	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521258	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4894381	0.85[EUR][1000 genomes]
rs4894382	0.92[EUR][1000 genomes]
rs4894383	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4894384	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4894397	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4894398	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4894399	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4894402	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57272617	0.80[ASN][1000 genomes]
rs57678437	0.83[ASN][1000 genomes]
rs6775443	0.99[ASN][1000 genomes]
rs6778179	1.00[ASN][1000 genomes]
rs6778394	1.00[ASN][1000 genomes]
rs73865838	0.83[ASN][1000 genomes]
rs73865842	0.83[ASN][1000 genomes]
rs73868514	0.83[ASN][1000 genomes]
rs73868515	0.83[ASN][1000 genomes]
rs7426421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7614968	0.98[ASN][1000 genomes]
rs7615670	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623750	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7626912	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7627087	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637464	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952389	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs955084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs955085	0.83[AMR][1000 genomes];0.85[EUR][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	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1005167	chr3:138854490-138988546	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv536728	chr3:138854490-138988546	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr3:138899800-138905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:138900000-138900200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:138900200-138900400	Enhancers	Pancreas	Pancrea
4	chr3:138900200-138905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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