Variant report

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

rs_ID	r²[population]
rs11020767	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12292294	0.80[EUR][1000 genomes]
rs1257774	0.80[EUR][1000 genomes]
rs13447646	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs512150	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs521669	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs522596	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs529126	0.80[EUR][1000 genomes]
rs540514	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs547289	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550255	0.81[AFR][1000 genomes]
rs552126	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs581002	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs584707	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs592068	0.80[EUR][1000 genomes]
rs598599	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs603937	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs607146	0.81[AMR][1000 genomes]
rs607974	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs640627	0.83[EUR][1000 genomes]
rs663530	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs687109	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7110046	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs516381	RP11-685N10.1	cis	lung	GTEx
rs516381	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs516381	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs516381	MRE11A	cis	Esophagus Muscularis	GTEx
rs516381	MRE11A	cis	Artery Tibial	GTEx
rs516381	RP11-685N10.1	cis	Artery Tibial	GTEx
rs516381	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs516381	MRE11A	cis	Stomach	GTEx
rs516381	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs516381	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs516381	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs516381	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs516381	MRE11A	cis	Adipose Subcutaneous	GTEx
rs516381	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs516381	RP11-685N10.1	cis	Thyroid	GTEx
rs516381	MRE11A	cis	Thyroid	GTEx
rs516381	MRE11A	cis	Nerve Tibial	GTEx
rs516381	MRE11A	cis	Esophagus Mucosa	GTEx
rs516381	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs516381	MRE11A	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
2	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:94135800-94143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:94139200-94141000	Weak transcription	Primary T cells from cord blood	blood

Quick Search: