Variant report

Variant	rs658234
Chromosome Location	chr11:94274329-94274330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94273988..94276726-chr11:94311479..94314894,4	K562	blood:
2	chr11:94273509..94276293-chr11:94301619..94303919,2	K562	blood:
3	chr11:94272866..94275420-chr11:94275644..94280283,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1014666	0.83[MEX][hapmap]
rs2508782	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525057	0.81[CEU][hapmap];0.81[CHD][hapmap]
rs525921	0.81[CEU][hapmap];0.81[CHD][hapmap]
rs567052	0.81[ASN][1000 genomes]
rs571044	0.87[CEU][hapmap]
rs595127	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610899	0.86[CHB][hapmap]
rs628079	0.81[CEU][hapmap]
rs693815	0.81[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs695093	0.81[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs658234	MRE11A	cis	lung	GTEx
rs658234	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs658234	HEPHL1	cis	cerebellum	SCAN
rs658234	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs658234	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs658234	MRE11A	cis	Adipose Subcutaneous	GTEx
rs658234	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs658234	GPR83	cis	parietal	SCAN
rs658234	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs658234	MRE11A	cis	lymphoblastoid	seeQTL
rs658234	MRE11A	cis	Esophagus Muscularis	GTEx
rs658234	MRE11A	cis	parietal	SCAN
rs658234	MRE11A	cis	Artery Tibial	GTEx
rs658234	MRE11A	cis	cerebellum	SCAN
rs658234	MRE11A	cis	Nerve Tibial	GTEx
rs658234	RP11-685N10.1	cis	Artery Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94267600-94276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:94267600-94276400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:94270600-94276400	Weak transcription	Fetal Lung	lung
4	chr11:94271000-94276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:94271000-94276400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:94271200-94276000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:94271200-94276000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:94271200-94276200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:94271200-94276200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:94271200-94276200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:94271200-94276200	Weak transcription	Aorta	Aorta
12	chr11:94271200-94276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:94271200-94276400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:94271200-94276600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:94271200-94276800	Weak transcription	HMEC	breast
16	chr11:94272400-94276400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:94272600-94275400	Enhancers	Stomach Mucosa	stomach
18	chr11:94272600-94276800	Weak transcription	Small Intestine	intestine
19	chr11:94273400-94275400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:94273400-94276000	Weak transcription	Fetal Intestine Large	intestine
21	chr11:94273800-94274600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:94273800-94276200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:94274000-94275000	Weak transcription	Fetal Intestine Small	intestine
24	chr11:94274200-94274400	Weak transcription	Colonic Mucosa	Colon

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