Variant report

Variant	rs540199
Chromosome Location	chr11:94229665-94229666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs10831225	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11020802	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020803	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224966	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1257769	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1272743	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3017077	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs473297	0.81[CEU][hapmap]
rs474577	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs509723	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs509744	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512150	0.85[CEU][hapmap]
rs518640	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs530569	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs535801	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550255	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552126	0.80[CEU][hapmap]
rs56108804	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs563807	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs584707	0.80[CEU][hapmap]
rs588701	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59678918	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs625245	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs639311	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641936	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs657249	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680695	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684507	0.81[CEU][hapmap]
rs693815	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]
rs948575	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs540199	MRE11A	cis	Artery Tibial	GTEx
rs540199	MRE11A	cis	Esophagus Mucosa	GTEx
rs540199	MRE11A	cis	Thyroid	GTEx
rs540199	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs540199	MRE11A	cis	Esophagus Muscularis	GTEx
rs540199	MRE11A	cis	Heart Left Ventricle	GTEx
rs540199	RP11-685N10.1	cis	Thyroid	GTEx
rs540199	MRE11A	cis	Whole Blood	GTEx
rs540199	MRE11A	cis	Stomach	GTEx
rs540199	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs540199	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs540199	RP11-685N10.1	cis	Stomach	GTEx
rs540199	MRE11A	cis	lung	GTEx
rs540199	RP11-685N10.1	cis	Artery Tibial	GTEx
rs540199	RP11-685N10.1	cis	lung	GTEx
rs540199	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs540199	MRE11A	cis	Nerve Tibial	GTEx
rs540199	MRE11A	cis	Adipose Subcutaneous	GTEx
rs540199	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs540199	MRE11A	cis	Artery Aorta	GTEx
rs540199	RP11-685N10.1	cis	Artery Aorta	GTEx
rs540199	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs540199	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs540199	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs540199	RP11-685N10.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94227600-94233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:94227600-94234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:94227800-94229800	Weak transcription	Placenta	Placenta
4	chr11:94227800-94230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:94227800-94230000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:94227800-94230000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:94227800-94230000	Weak transcription	Ovary	ovary
8	chr11:94227800-94230000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:94227800-94230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:94227800-94231000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:94227800-94231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:94227800-94231200	Weak transcription	Colonic Mucosa	Colon
13	chr11:94227800-94231200	Weak transcription	Esophagus	oesophagus
14	chr11:94227800-94231200	Weak transcription	Left Ventricle	heart
15	chr11:94227800-94231200	Weak transcription	Lung	lung
16	chr11:94227800-94231200	Weak transcription	Right Ventricle	heart
17	chr11:94227800-94231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:94227800-94231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:94227800-94232800	Weak transcription	Spleen	Spleen
20	chr11:94227800-94235400	Weak transcription	Pancreas	Pancrea
21	chr11:94227800-94236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:94227800-94237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:94227800-94237000	Weak transcription	Aorta	Aorta
24	chr11:94227800-94238400	Weak transcription	Small Intestine	intestine
25	chr11:94227800-94238800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:94227800-94245200	Weak transcription	Gastric	stomach
27	chr11:94228000-94229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:94228000-94229800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:94228000-94229800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:94228000-94229800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:94228000-94229800	Weak transcription	Fetal Thymus	thymus
32	chr11:94228000-94230000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:94228000-94230000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:94228000-94230000	Weak transcription	HSMM	muscle
35	chr11:94228000-94230600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:94228000-94230600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:94228000-94231000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:94228000-94231000	Weak transcription	HSMMtube	muscle
39	chr11:94228000-94231200	Weak transcription	Fetal Kidney	kidney
40	chr11:94228000-94231200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:94228000-94231200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:94228000-94232000	Weak transcription	Psoas Muscle	Psoas
43	chr11:94228000-94235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:94228000-94245000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:94228000-94245200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:94228000-94245800	Weak transcription	Stomach Mucosa	stomach
47	chr11:94228200-94229800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:94228200-94229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:94228200-94229800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:94228200-94229800	Weak transcription	Liver	Liver

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