Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178561522..178564195-chr2:178587506..178589643,2	K562	blood:

Variant related genes	Relation type
ENSG00000229941	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497488	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10497489	0.92[ASN][1000 genomes]
rs10930806	0.92[ASN][1000 genomes]
rs13031632	0.92[ASN][1000 genomes]
rs1344925	0.92[ASN][1000 genomes]
rs1370655	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1438041	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16865769	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17400325	0.84[AMR][1000 genomes]
rs34952652	0.92[ASN][1000 genomes]
rs3770028	0.92[ASN][1000 genomes]
rs3770043	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57427125	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57877880	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58408943	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59657949	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60748325	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61551597	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62183002	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62183040	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183042	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62183043	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6731237	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73030327	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73030354	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs934798	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178581000-178587800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:178584000-178589000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:178585800-178589800	Enhancers	Fetal Kidney	kidney
4	chr2:178586000-178589200	Weak transcription	Liver	Liver
5	chr2:178586200-178589200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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