Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164248932..164251258-chr6:164252900..164255614,2	K562	blood:
2	chr6:164240534..164242606-chr6:164247926..164250423,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1111706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895237	1.00[AMR][1000 genomes]
rs16895341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895397	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs16895830	1.00[AMR][1000 genomes]
rs58088941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58323755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58940985	1.00[AMR][1000 genomes]
rs59310825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59525582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59978141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60789865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6455924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752540	1.00[CEU][hapmap]
rs7757701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7775589	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164247200-164251200	Enhancers	Brain Germinal Matrix	brain
2	chr6:164248400-164250200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:164248800-164250200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:164249000-164250400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:164249600-164250600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:164249800-164250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:164249800-164250400	Enhancers	Placenta	Placenta
8	chr6:164250000-164258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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