Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103064368..103066846-chr7:103068610..103071577,2	K562	blood:
2	chr7:103069524..103071611-chr7:103074339..103077390,3	K562	blood:

Variant related genes	Relation type
ENSG00000252047	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10268858	0.82[MEX][hapmap]
rs10488281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11970909	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983166	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705121	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859784	0.82[MEX][hapmap]
rs1859785	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs1990168	0.86[AMR][1000 genomes]
rs2079470	0.88[AMR][1000 genomes]
rs2079471	0.83[AMR][1000 genomes]
rs2108264	0.91[MEX][hapmap]
rs2108265	0.82[MEX][hapmap]
rs2190420	0.86[AMR][1000 genomes]
rs2190421	0.88[AMR][1000 genomes]
rs2190422	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2214924	0.82[MEX][hapmap]
rs2382690	0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs6968435	0.86[AMR][1000 genomes]
rs7807829	0.86[AMR][1000 genomes]
rs7809887	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9918711	0.82[MEX][hapmap]

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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1075737	CUX1	cis	cerebellum	SCAN
rs1075737	ZAN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103068200-103073200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:103070600-103073400	Weak transcription	HepG2	liver

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