Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85816871..85820639-chr11:85825942..85829677,4	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11234544	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234548	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12270433	0.81[EUR][1000 genomes]
rs12271390	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12276435	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12277986	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12281494	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12282655	0.85[EUR][1000 genomes]
rs12284629	0.94[EUR][1000 genomes]
rs12294130	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17817956	0.83[EUR][1000 genomes]
rs2001241	0.85[EUR][1000 genomes]
rs4943937	0.87[EUR][1000 genomes]
rs4944555	0.81[EUR][1000 genomes]
rs4944556	0.84[EUR][1000 genomes]
rs55791429	0.83[EUR][1000 genomes]
rs56187740	0.82[EUR][1000 genomes]
rs72950443	0.85[EUR][1000 genomes]
rs72950453	0.85[EUR][1000 genomes]
rs72950456	0.85[EUR][1000 genomes]
rs72959906	0.87[EUR][1000 genomes]
rs72959929	0.96[EUR][1000 genomes]
rs72965157	0.81[EUR][1000 genomes]
rs72965166	0.85[EUR][1000 genomes]
rs7943152	0.87[EUR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12292364	PICALM	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85813600-85826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:85824800-85837600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:85825400-85826200	Weak transcription	K562	blood
4	chr11:85825800-85827200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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