Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106989784..106993522-chr8:107071266..107073631,4	K562	blood:
2	chr8:106986050..106989010-chr8:106989686..106992427,4	K562	blood:

Variant related genes	Relation type
ENSG00000251003	Chromatin interaction

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

rs_ID	r²[population]
rs11773948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1366966	0.81[EUR][1000 genomes]
rs1429673	0.93[EUR][1000 genomes]
rs1429677	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1429679	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16873995	0.90[ASW][hapmap];0.94[CEU][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16874116	0.94[CEU][hapmap];0.91[YRI][hapmap];0.80[EUR][1000 genomes]
rs1864318	0.93[EUR][1000 genomes]
rs1864319	0.94[EUR][1000 genomes]
rs2082066	0.94[CEU][hapmap]
rs56098431	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56141525	0.81[EUR][1000 genomes]
rs56172266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62525730	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62527364	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62527371	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62527406	0.94[EUR][1000 genomes]
rs62527409	0.81[EUR][1000 genomes]
rs6469029	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6469036	0.94[CEU][hapmap];0.92[YRI][hapmap];0.80[EUR][1000 genomes]
rs6984942	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs993176	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[EUR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7841482	KLF10	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106991200-106999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:106992000-106992400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:106992000-106992800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:106992200-106992400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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