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	chr8:130481659..130484565-chr8:130492634..130494986,2	MCF-7	breast:
4	chr8:130474963..130477166-chr8:130482134..130484641,2	K562	blood:

Variant related genes	Relation type
ENSG00000263763	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10087235	1.00[JPT][hapmap]
rs10094748	1.00[JPT][hapmap]
rs10104020	1.00[JPT][hapmap]
rs10956474	1.00[JPT][hapmap]
rs10956476	1.00[JPT][hapmap]
rs1108353	0.83[EUR][1000 genomes]
rs12164231	1.00[JPT][hapmap]
rs12234967	1.00[JPT][hapmap]
rs12335056	1.00[JPT][hapmap]
rs16904080	0.89[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]
rs16904084	0.82[EUR][1000 genomes]
rs17262815	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017455	0.83[EUR][1000 genomes]
rs61684115	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67674260	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714249	0.88[EUR][1000 genomes]
rs72714253	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714255	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714268	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73391885	0.81[EUR][1000 genomes]
rs736863	0.82[EUR][1000 genomes]
rs755958	0.83[EUR][1000 genomes]
rs919702	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]
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

No data

Chromatin state (count:4 , 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	chr8:130483400-130487800	Strong transcription	K562	blood
3	chr8:130484200-130484600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:130484200-130486000	Weak transcription	HSMM	muscle

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