Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76032426..76034462-chr5:76050771..76053290,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs152778	0.89[ASN][1000 genomes]
rs153310	0.81[ASN][1000 genomes]
rs193943	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250716	0.90[ASN][1000 genomes]
rs250717	0.91[ASN][1000 genomes]
rs250719	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250720	0.98[ASN][1000 genomes]
rs250723	0.97[ASN][1000 genomes]
rs250730	0.80[ASN][1000 genomes]
rs250731	0.81[ASN][1000 genomes]
rs250739	0.89[ASN][1000 genomes]
rs250741	0.89[ASN][1000 genomes]
rs250742	0.88[ASN][1000 genomes]
rs250744	0.88[ASN][1000 genomes]
rs250745	0.88[ASN][1000 genomes]
rs250746	0.88[ASN][1000 genomes]
rs250747	0.87[ASN][1000 genomes]
rs250748	0.88[ASN][1000 genomes]
rs250750	0.87[ASN][1000 genomes]
rs250751	0.87[ASN][1000 genomes]
rs250752	0.87[ASN][1000 genomes]
rs457606	0.81[ASN][1000 genomes]
rs705402	0.89[ASN][1000 genomes]

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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs153306	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76047400-76052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:76051000-76052200	Weak transcription	A549	lung
3	chr5:76051000-76054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:76051000-76054400	Weak transcription	NHEK	skin
5	chr5:76051000-76056600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:76051200-76054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:76051600-76052400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:76051800-76052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:76051800-76053000	Active TSS	HepG2	liver

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