Variant report

Variant	rs553634
Chromosome Location	chr11:94233959-94233960
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94208946..94211928-chr11:94232056..94233967,2	MCF-7	breast:
2	chr11:94225979..94229384-chr11:94230397..94235421,9	K562	blood:
3	chr11:94232199..94234822-chr11:94243193..94245619,2	K562	blood:
4	chr11:94232358..94234196-chr11:94243967..94245668,2	K562	blood:
5	chr11:94225901..94228925-chr11:94232814..94235568,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1014666	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1270146	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508460	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2508782	0.81[AMR][1000 genomes]
rs2508784	0.86[EUR][1000 genomes]
rs2509321	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2509324	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2509943	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4342993	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4593974	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs472344	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs473297	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs475531	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs482629	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs486556	0.89[EUR][1000 genomes]
rs489200	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs492001	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs493982	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs496190	0.87[EUR][1000 genomes]
rs496797	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs497763	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs500558	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs524350	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs525057	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs525921	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs536768	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544337	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs547207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs569143	0.83[AMR][1000 genomes]
rs571044	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs582049	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs582077	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs595127	0.81[AMR][1000 genomes]
rs610899	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs612075	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs612632	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs614424	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs621562	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs622961	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs628079	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs628164	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs628728	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs629119	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs629156	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs642744	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs647249	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6483341	0.80[EUR][1000 genomes]
rs659349	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs659489	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs662572	0.91[EUR][1000 genomes]
rs682213	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs684507	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs693815	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs695093	0.86[EUR][1000 genomes]

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs553634	MRE11A	cis	lung	GTEx
rs553634	MRE11A	cis	Heart Left Ventricle	GTEx
rs553634	MRE11A	cis	Esophagus Muscularis	GTEx
rs553634	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs553634	MRE11A	cis	Nerve Tibial	GTEx
rs553634	MRE11A	cis	Adipose Subcutaneous	GTEx
rs553634	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs553634	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs553634	RP11-685N10.1	cis	lung	GTEx
rs553634	RP11-685N10.1	cis	Thyroid	GTEx
rs553634	RP11-685N10.1	cis	Stomach	GTEx
rs553634	MRE11A	cis	Stomach	GTEx
rs553634	RP11-685N10.1	cis	Artery Aorta	GTEx
rs553634	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs553634	MRE11A	cis	Thyroid	GTEx
rs553634	MRE11A	cis	Artery Tibial	GTEx
rs553634	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs553634	MRE11A	cis	Esophagus Mucosa	GTEx
rs553634	RP11-685N10.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94227600-94234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94227800-94235400	Weak transcription	Pancreas	Pancrea
3	chr11:94227800-94236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:94227800-94237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94227800-94237000	Weak transcription	Aorta	Aorta
6	chr11:94227800-94238400	Weak transcription	Small Intestine	intestine
7	chr11:94227800-94238800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:94227800-94245200	Weak transcription	Gastric	stomach
9	chr11:94228000-94235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:94228000-94245000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:94228000-94245200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:94228000-94245800	Weak transcription	Stomach Mucosa	stomach
13	chr11:94228400-94245200	Weak transcription	Fetal Stomach	stomach
14	chr11:94228600-94235200	Weak transcription	A549	lung
15	chr11:94229600-94235600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:94229800-94234000	Strong transcription	Fetal Thymus	thymus
17	chr11:94229800-94234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:94229800-94234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:94229800-94234200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:94229800-94234400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:94229800-94234400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:94229800-94234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:94229800-94235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:94229800-94235200	Strong transcription	Liver	Liver
25	chr11:94229800-94235400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:94229800-94235400	Strong transcription	Primary T cells from cord blood	blood
27	chr11:94229800-94235400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr11:94229800-94235400	Strong transcription	Placenta	Placenta
29	chr11:94229800-94235600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:94229800-94235600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:94229800-94235600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:94229800-94235600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:94229800-94236200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:94230000-94234000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:94230000-94234000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:94230000-94234000	Strong transcription	HMEC	breast
37	chr11:94230000-94234000	Strong transcription	NHEK	skin
38	chr11:94230000-94234200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:94230000-94234200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:94230000-94234200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:94230000-94234200	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:94230000-94234200	Strong transcription	Thymus	Thymus
43	chr11:94230000-94234400	Strong transcription	Adipose Nuclei	Adipose
44	chr11:94230000-94235400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:94230000-94235600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:94230000-94235600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:94230000-94235600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:94230000-94235600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:94230200-94234600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:94230200-94235800	Strong transcription	Brain Anterior Caudate	brain

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