Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65121358..65123984-chr8:65128022..65129951,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10957304	0.83[ASN][1000 genomes]
rs11990688	1.00[ASN][1000 genomes]
rs1385606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930969	0.98[ASN][1000 genomes]
rs16930978	0.80[ASN][1000 genomes]
rs16930983	0.80[ASN][1000 genomes]
rs16930984	0.80[ASN][1000 genomes]
rs1899049	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1899050	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1948035	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1971832	0.83[ASN][1000 genomes]
rs4576459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056312	1.00[ASN][1000 genomes]
rs56821160	1.00[ASN][1000 genomes]
rs58529141	0.81[ASN][1000 genomes]
rs60726853	0.83[ASN][1000 genomes]
rs6989735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003591	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652651	0.98[ASN][1000 genomes]
rs73244051	0.80[ASN][1000 genomes]
rs73244592	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73246203	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs936794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv890970	chr8:64975466-65125295	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv890971	chr8:65028814-65242166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65119000-65133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65121400-65122000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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