Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57145102..57148601-chr11:57153468..57156551,3	K562	blood:
2	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:

Variant related genes	Relation type
ENSG00000149136	Chromatin interaction

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

rs_ID	r²[population]
rs10736684	1.00[ASN][1000 genomes]
rs10736685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1257719	1.00[ASN][1000 genomes]
rs1257721	1.00[ASN][1000 genomes]
rs1348304	1.00[ASN][1000 genomes]
rs17151863	1.00[MEX][hapmap]
rs2508768	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2584860	1.00[ASN][1000 genomes]
rs2846392	1.00[ASN][1000 genomes]
rs2846393	1.00[ASN][1000 genomes]
rs2846394	1.00[ASN][1000 genomes]
rs2846395	1.00[ASN][1000 genomes]
rs3887124	1.00[MEX][hapmap]
rs3887125	1.00[MEX][hapmap]
rs514861	1.00[ASN][1000 genomes]
rs521889	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs536352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs536455	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs540687	1.00[ASN][1000 genomes]
rs544079	1.00[ASN][1000 genomes]
rs567118	1.00[ASN][1000 genomes]
rs571651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs630396	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs6591423	1.00[GIH][hapmap]
rs6591424	1.00[GIH][hapmap]
rs669661	1.00[ASN][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 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	chr11:57144800-57154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57148000-57148600	Enhancers	A549	lung
3	chr11:57148400-57148600	Enhancers	K562	blood

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