Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99849629..99852430-chr4:99898543..99901208,2	K562	blood:

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

rs_ID	r²[population]
rs10001003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016708	0.90[YRI][hapmap]
rs10018631	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs10032634	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs10034645	0.90[YRI][hapmap]
rs10084896	0.87[LWK][hapmap];0.87[YRI][hapmap]
rs12512091	1.00[JPT][hapmap]
rs17218560	1.00[JPT][hapmap]
rs28377998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28607521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28792701	0.82[AFR][1000 genomes]
rs28987087	1.00[AMR][1000 genomes]
rs6832697	0.90[YRI][hapmap]
rs6852510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7356160	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7356525	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665813	1.00[AMR][1000 genomes]
rs9307232	0.90[YRI][hapmap]
rs9884237	0.90[YRI][hapmap]
rs9996051	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7356519	RASIP1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99898400-99905600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99898600-99901800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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