Variant report

Variant	rs12224966
Chromosome Location	chr11:94128777-94128778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs10831225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020802	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11020803	1.00[CEU][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1257769	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1272743	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508784	0.81[CEU][hapmap]
rs3017077	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs472344	0.80[CEU][hapmap]
rs473297	0.81[CEU][hapmap]
rs474577	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs500558	0.80[CEU][hapmap]
rs509723	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs509744	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs512150	0.84[CEU][hapmap]
rs518640	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs530569	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs535801	0.84[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs540199	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs550255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56108804	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563807	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs588701	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59678918	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610899	0.80[CEU][hapmap]
rs625245	1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs639311	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs641936	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657249	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs680695	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs682213	0.81[CEU][hapmap]
rs684507	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]
rs948575	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[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	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:29)

SNP	Gene	Cis/trans	Tissue	Source
rs12224966	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs12224966	MRE11A	cis	Artery Tibial	GTEx
rs12224966	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs12224966	RP11-685N10.1	cis	Stomach	GTEx
rs12224966	MRE11A	cis	Stomach	GTEx
rs12224966	MRE11A	cis	cerebellum	SCAN
rs12224966	RP11-685N10.1	cis	Thyroid	GTEx
rs12224966	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs12224966	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs12224966	MRE11A	cis	lung	GTEx
rs12224966	MRE11A	cis	Nerve Tibial	GTEx
rs12224966	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs12224966	RP11-685N10.1	cis	Artery Tibial	GTEx
rs12224966	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs12224966	RP11-685N10.1	cis	lung	GTEx
rs12224966	MRE11A	cis	Thyroid	GTEx
rs12224966	MRE11A	cis	Esophagus Mucosa	GTEx
rs12224966	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs12224966	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs12224966	MRE11A	cis	Heart Left Ventricle	GTEx
rs12224966	MRE11A	cis	Adipose Subcutaneous	GTEx
rs12224966	MRE11A	cis	Esophagus Muscularis	GTEx
rs12224966	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs12224966	MAML2	cis	parietal	SCAN
rs12224966	RP11-685N10.1	cis	Artery Aorta	GTEx
rs12224966	MRE11A	cis	Artery Aorta	GTEx
rs12224966	MAML2	cis	cerebellum	SCAN
rs12224966	MRE11A	cis	Whole Blood	GTEx
rs12224966	MRE11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94119600-94132400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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