Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:130482902..130485716-chr8:130494024..130496712,3	K562	blood:
2	chr8:130472835..130474736-chr8:130481609..130484413,2	K562	blood:
3	chr8:130476943..130484127-chr8:130486022..130491772,8	K562	blood:
4	chr8:130481659..130484565-chr8:130492634..130494986,2	MCF-7	breast:
5	chr8:130474963..130477166-chr8:130482134..130484641,2	K562	blood:
6	chr8:130477296..130479035-chr8:130481877..130483392,2	K562	blood:

Variant related genes	Relation type
ENSG00000263763	Chromatin interaction

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

rs_ID	r²[population]
rs10087235	1.00[JPT][hapmap]
rs10094748	1.00[JPT][hapmap]
rs10104020	1.00[JPT][hapmap]
rs10505541	1.00[CHB][hapmap]
rs10505542	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs10956474	1.00[JPT][hapmap]
rs10956476	1.00[JPT][hapmap]
rs12164231	1.00[JPT][hapmap]
rs12234967	1.00[JPT][hapmap]
rs12335056	1.00[JPT][hapmap]
rs16904080	1.00[ASW][hapmap];0.94[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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262815	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897449	0.94[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61684115	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67674260	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714249	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72714253	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714255	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714268	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297787	1.00[JPT][hapmap]
rs9297788	1.00[JPT][hapmap]

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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs919702	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130475800-130492000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130480800-130483400	Genic enhancers	K562	blood
3	chr8:130481000-130484000	Weak transcription	HSMM	muscle
4	chr8:130483000-130483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130483000-130483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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