Variant report

Variant	rs521349
Chromosome Location	chr11:94253577-94253578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94252606..94260040-chr11:94275780..94279036,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10831225	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11020802	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11020803	0.92[CEU][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12224966	0.92[CEU][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs1257769	0.86[AMR][1000 genomes]
rs1272743	0.85[AMR][1000 genomes]
rs3017077	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs474577	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs509723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509744	0.86[AMR][1000 genomes]
rs518640	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs525057	0.88[CEU][hapmap]
rs525921	0.88[CEU][hapmap]
rs530569	0.84[AMR][1000 genomes]
rs535801	0.87[MEX][hapmap];0.87[AMR][1000 genomes]
rs540199	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs550255	0.92[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs563807	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs571044	0.83[CEU][hapmap]
rs588701	0.92[CEU][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59678918	0.82[AMR][1000 genomes]
rs610899	0.80[CEU][hapmap]
rs616823	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs625245	0.92[CEU][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628079	0.88[CEU][hapmap]
rs639311	0.85[AMR][1000 genomes]
rs641936	0.80[AMR][1000 genomes]
rs647484	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs654718	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs657249	0.85[AMR][1000 genomes]
rs680695	0.87[AMR][1000 genomes]
rs693815	0.88[CEU][hapmap]
rs695093	0.88[CEU][hapmap]
rs948575	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs521349	MRE11A	cis	Whole Blood	GTEx
rs521349	MRE11A	cis	Esophagus Muscularis	GTEx
rs521349	MRE11A	cis	parietal	SCAN
rs521349	MAML2	cis	parietal	SCAN
rs521349	MRE11A	cis	Nerve Tibial	GTEx
rs521349	MRE11A	cis	Thyroid	GTEx
rs521349	RP11-685N10.1	cis	Stomach	GTEx
rs521349	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs521349	MRE11A	cis	Artery Tibial	GTEx
rs521349	MRE11A	cis	Esophagus Mucosa	GTEx
rs521349	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs521349	MRE11A	cis	Adipose Subcutaneous	GTEx
rs521349	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs521349	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs521349	RP11-685N10.1	cis	Artery Aorta	GTEx
rs521349	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs521349	RP11-685N10.1	cis	lung	GTEx
rs521349	MRE11A	cis	Artery Aorta	GTEx
rs521349	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs521349	MAML2	cis	cerebellum	SCAN
rs521349	RP11-685N10.1	cis	Thyroid	GTEx
rs521349	MRE11A	cis	lung	GTEx
rs521349	MRE11A	cis	multi-tissue	Pritchard
rs521349	RP11-685N10.1	cis	Artery Tibial	GTEx
rs521349	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs521349	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs521349	MRE11A	cis	Stomach	GTEx
rs521349	MRE11A	cis	Heart Left Ventricle	GTEx
rs521349	MRE11A	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94246000-94267400	Weak transcription	Aorta	Aorta
2	chr11:94246800-94259000	Weak transcription	Stomach Mucosa	stomach
3	chr11:94247200-94258800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:94253200-94257000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:94253400-94253600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:94253400-94258800	Weak transcription	Primary monocytes fromperipheralblood	blood

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