Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43996877..43998407-chr5:44002800..44004617,2	MCF-7	breast:
2	chr5:43998642..44000714-chr5:44004356..44005906,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13159468	0.95[AFR][1000 genomes]
rs4256351	0.93[EUR][1000 genomes]
rs4526111	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55729179	0.93[EUR][1000 genomes]
rs55742498	0.87[EUR][1000 genomes]
rs56260024	0.93[EUR][1000 genomes]
rs56310009	0.93[EUR][1000 genomes]
rs6451739	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72748143	0.87[EUR][1000 genomes]
rs72748153	0.93[EUR][1000 genomes]
rs72748154	0.93[EUR][1000 genomes]
rs72748156	0.93[EUR][1000 genomes]
rs72748159	0.93[EUR][1000 genomes]
rs72748163	0.93[EUR][1000 genomes]
rs72748164	0.93[EUR][1000 genomes]
rs72748168	0.93[EUR][1000 genomes]
rs72748169	0.93[EUR][1000 genomes]
rs72748178	0.93[EUR][1000 genomes]
rs72748187	0.93[EUR][1000 genomes]
rs72748197	0.93[EUR][1000 genomes]
rs72748198	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72748200	0.93[EUR][1000 genomes]
rs72750162	0.85[EUR][1000 genomes]
rs72750165	0.93[EUR][1000 genomes]
rs72750171	0.90[EUR][1000 genomes]
rs72764223	0.81[EUR][1000 genomes]
rs72764224	0.81[EUR][1000 genomes]
rs72764226	0.87[EUR][1000 genomes]
rs72764227	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1019047	chr5:43939693-44301657	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830276	chr5:43951430-44150855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6451738	SEMA3A	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43998400-44005000	Enhancers	HepG2	liver
2	chr5:44003000-44004600	Weak transcription	Fetal Lung	lung
3	chr5:44004200-44008200	Weak transcription	Stomach Mucosa	stomach
4	chr5:44004400-44005000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

Quick Search: