Variant report

Variant	rs693815
Chromosome Location	chr11:94253058-94253059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94251536..94253179-chr11:94279297..94281845,2	MCF-7	breast:
2	chr11:94252622..94253254-chr11:94296474..94297392,2	MCF-7	breast:
3	chr11:94248605..94250717-chr11:94251159..94253101,2	K562	blood:
4	chr11:94252606..94260040-chr11:94275780..94279036,7	MCF-7	breast:
5	chr11:94252767..94253301-chr11:94330784..94331624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1014666	0.84[CEU][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10831225	0.81[CEU][hapmap]
rs1270146	0.87[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2508460	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508782	0.85[CEU][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2508784	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2509321	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2509324	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509943	0.83[AMR][1000 genomes]
rs3017077	0.81[CEU][hapmap]
rs4342993	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4593974	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472344	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs473297	0.84[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs475531	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs482629	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs484590	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs486556	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489200	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492001	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493982	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs496190	0.83[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs496797	0.84[EUR][1000 genomes]
rs497763	0.88[CEU][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs500558	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs521349	0.88[CEU][hapmap]
rs524350	0.84[EUR][1000 genomes]
rs525057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs525921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536768	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540199	0.81[CEU][hapmap]
rs544337	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547207	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553634	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs557148	0.83[MEX][hapmap]
rs569143	0.83[MEX][hapmap]
rs571044	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582049	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582077	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595127	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs610899	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612075	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs612632	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614424	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621562	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs622961	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs628079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628164	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628728	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629119	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629156	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs642744	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647249	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6483341	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs654718	0.81[CEU][hapmap]
rs658234	0.81[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs659489	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs662572	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs682213	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs684507	0.84[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs695093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs948575	0.81[CEU][hapmap]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs693815	MRE11A	cis	lung	GTEx
rs693815	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs693815	MRE11A	cis	Adipose Subcutaneous	GTEx
rs693815	MRE11A	cis	Stomach	GTEx
rs693815	MRE11A	cis	Thyroid	GTEx
rs693815	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs693815	MRE11A	cis	Nerve Tibial	GTEx
rs693815	RP11-685N10.1	cis	lung	GTEx
rs693815	MRE11A	cis	Heart Left Ventricle	GTEx
rs693815	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs693815	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs693815	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs693815	MRE11A	cis	Artery Tibial	GTEx
rs693815	MRE11A	cis	Esophagus Muscularis	GTEx
rs693815	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs693815	MRE11A	cis	multi-tissue	Pritchard
rs693815	MRE11A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:20 , 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	chr11:94252600-94253200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr11:94252600-94253200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:94252800-94253200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:94252800-94253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:94252800-94253200	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:94252800-94253200	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:94252800-94253200	Enhancers	Fetal Intestine Large	intestine
11	chr11:94252800-94253200	Enhancers	Rectal Smooth Muscle	rectum
12	chr11:94252800-94253400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:94253000-94253200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:94253000-94253200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:94253000-94253200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:94253000-94253200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:94253000-94253200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr11:94253000-94253200	Enhancers	Brain Hippocampus Middle	brain
19	chr11:94253000-94253400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:94253000-94253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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