Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:130778949..130780935-chr8:130781435..130782937,2	K562	blood:
2	chr8:130779065..130781397-chr8:130798762..130800424,2	MCF-7	breast:
3	chr8:130777382..130781561-chr8:130783248..130785671,3	K562	blood:

Variant related genes	Relation type
ENSG00000147697	Chromatin interaction

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

rs_ID	r²[population]
rs10956493	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600932	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1600933	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600934	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190932	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1842793	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1967019	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2086639	0.83[ASN][1000 genomes]
rs2086640	0.83[ASN][1000 genomes]
rs2101163	0.83[ASN][1000 genomes]
rs2170569	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3963418	0.83[ASN][1000 genomes]
rs56757322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58767048	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192669	0.83[ASN][1000 genomes]
rs60746191	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60977383	0.83[ASN][1000 genomes]
rs61071273	0.83[ASN][1000 genomes]
rs6981982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967974	0.85[EUR][1000 genomes];0.83[ASN][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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130767200-130780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130778800-130781800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130780000-130781000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:130780000-130787200	Weak transcription	NHEK	skin
5	chr8:130780200-130787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130780400-130790200	Weak transcription	Spleen	Spleen
7	chr8:130780400-130797000	Weak transcription	Esophagus	oesophagus

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