Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39707435..39710086-chr8:39713478..39716352,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989147	1.00[EUR][1000 genomes]
rs11990694	1.00[EUR][1000 genomes]
rs11996873	1.00[EUR][1000 genomes]
rs1376728	1.00[EUR][1000 genomes]
rs1451737	1.00[EUR][1000 genomes]
rs1451744	1.00[EUR][1000 genomes]
rs1901387	1.00[EUR][1000 genomes]
rs202002	1.00[EUR][1000 genomes]
rs202005	1.00[EUR][1000 genomes]
rs2122991	1.00[EUR][1000 genomes]
rs3974327	1.00[EUR][1000 genomes]
rs57403655	1.00[EUR][1000 genomes]
rs6983759	1.00[EUR][1000 genomes]
rs6987500	1.00[EUR][1000 genomes]
rs7005051	1.00[EUR][1000 genomes]
rs7836547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837269	1.00[EUR][1000 genomes]
rs896472	1.00[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	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr8:39704800-39717800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:39707400-39717400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:39711800-39717000	Weak transcription	HUVEC	blood vessel

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