Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:172549383..172552070-chr4:172555751..172557689,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10027081	0.93[ASN][1000 genomes]
rs10029093	0.90[ASN][1000 genomes]
rs1027205	0.93[ASN][1000 genomes]
rs1027206	0.93[ASN][1000 genomes]
rs1406510	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1406511	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1406512	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1490492	0.88[ASN][1000 genomes]
rs1528938	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1565469	0.87[ASN][1000 genomes]
rs1565470	0.93[ASN][1000 genomes]
rs1919495	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1963031	0.89[ASN][1000 genomes]
rs1964604	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029501	0.93[ASN][1000 genomes]
rs2029502	0.93[ASN][1000 genomes]
rs2200989	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2222788	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2332359	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3902945	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4692898	0.87[ASN][1000 genomes]
rs6830858	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6848298	0.87[ASN][1000 genomes]
rs6848414	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7661649	0.84[ASN][1000 genomes]
rs7667025	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7674432	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7676438	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7676453	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7689150	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9312509	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022077	chr4:172460997-172609297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv537356	chr4:172460997-172609297	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022527	chr4:172547732-173236939	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537357	chr4:172547732-173236939	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1025407	chr4:172548085-172621810	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:172549800-172551400	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:172550400-172551000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:172550600-172551400	Enhancers	Placenta	Placenta

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