Variant report

Variant	rs6483341
Chromosome Location	chr11:94130342-94130343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1014666	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10831222	0.85[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs10831225	0.81[CEU][hapmap]
rs11020799	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11020803	0.81[CEU][hapmap]
rs12224966	0.81[CEU][hapmap]
rs1270146	0.96[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2508460	0.80[EUR][1000 genomes]
rs2508784	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2509324	0.80[JPT][hapmap]
rs2509943	0.88[EUR][1000 genomes]
rs3017077	0.81[CEU][hapmap]
rs3758787	0.84[YRI][hapmap]
rs472344	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs473297	0.80[ASW][hapmap];1.00[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs475531	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs476137	0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs482629	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs486556	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs489200	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs493982	0.89[EUR][1000 genomes]
rs496190	0.96[CEU][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs496797	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs497763	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs500558	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs518276	0.81[CEU][hapmap]
rs524350	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs525057	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs525921	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs533984	0.81[CEU][hapmap]
rs540199	0.81[CEU][hapmap]
rs544337	0.83[EUR][1000 genomes]
rs550255	0.81[CEU][hapmap]
rs553634	0.80[EUR][1000 genomes]
rs557148	0.81[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs569143	0.81[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs571044	0.86[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs588701	0.81[CEU][hapmap]
rs610899	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs621562	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs622961	0.92[CEU][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs625245	0.81[CEU][hapmap]
rs628079	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs654718	0.81[CEU][hapmap]
rs659349	0.82[EUR][1000 genomes]
rs662572	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs675478	0.82[CHB][hapmap]
rs682213	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs684507	0.86[ASW][hapmap];1.00[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs693815	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs695093	0.84[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs948575	0.81[CEU][hapmap]

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:23)

SNP	Gene	Cis/trans	Tissue	Source
rs6483341	MRE11A	cis	Adipose Subcutaneous	GTEx
rs6483341	MRE11A	cis	Stomach	GTEx
rs6483341	MRE11A	cis	cerebellum	SCAN
rs6483341	RP11-685N10.1	cis	Artery Tibial	GTEx
rs6483341	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs6483341	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs6483341	MRE11A	cis	Heart Left Ventricle	GTEx
rs6483341	MRE11A	cis	Nerve Tibial	GTEx
rs6483341	MRE11A	cis	Esophagus Mucosa	GTEx
rs6483341	RP11-685N10.1	cis	Thyroid	GTEx
rs6483341	GPR83	cis	parietal	SCAN
rs6483341	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6483341	MRE11A	cis	Thyroid	GTEx
rs6483341	RP11-685N10.1	cis	Stomach	GTEx
rs6483341	RP11-685N10.1	cis	Artery Aorta	GTEx
rs6483341	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs6483341	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs6483341	RP11-685N10.1	cis	lung	GTEx
rs6483341	MRE11A	cis	parietal	SCAN
rs6483341	MRE11A	cis	Esophagus Muscularis	GTEx
rs6483341	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs6483341	MRE11A	cis	lung	GTEx
rs6483341	MRE11A	cis	Artery Tibial	GTEx

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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