Variant report

Variant	rs518276
Chromosome Location	chr11:94167257-94167258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[YRI][hapmap]
rs1133572	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508678	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508784	0.81[CEU][hapmap]
rs2509324	0.83[CEU][hapmap]
rs472344	0.80[CEU][hapmap]
rs473297	0.81[CEU][hapmap]
rs498999	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499952	0.82[ASW][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500558	0.84[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs533984	1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs541472	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576948	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs601341	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622961	0.85[YRI][hapmap]
rs6483341	0.81[CEU][hapmap]
rs659349	0.84[CHB][hapmap]
rs675478	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs682213	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[YRI][hapmap]
rs684507	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs518276	MRE11A	cis	Stomach	GTEx
rs518276	MRE11A	cis	Esophagus Mucosa	GTEx
rs518276	MRE11A	cis	Adipose Subcutaneous	GTEx
rs518276	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs518276	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs518276	MRE11A	cis	lung	GTEx
rs518276	MRE11A	cis	Esophagus Muscularis	GTEx
rs518276	MRE11A	cis	Nerve Tibial	GTEx
rs518276	RP11-685N10.1	cis	Artery Tibial	GTEx
rs518276	MRE11A	cis	Artery Tibial	GTEx
rs518276	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs518276	RP11-685N10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
2	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
5	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
6	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
10	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:94157200-94168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
17	chr11:94157600-94182200	Weak transcription	Osteobl	bone
18	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
19	chr11:94157800-94169200	Weak transcription	NHDF-Ad	bronchial
20	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:94158400-94168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:94161000-94183000	Strong transcription	Dnd41	blood
23	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:94161400-94170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:94162000-94168400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:94162000-94168400	Weak transcription	Fetal Stomach	stomach
27	chr11:94162000-94170000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:94162800-94168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:94162800-94168400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:94162800-94169200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:94162800-94170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:94163000-94167400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:94163000-94167800	Weak transcription	Fetal Kidney	kidney
37	chr11:94163000-94168000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:94163000-94168000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:94163000-94168200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:94163000-94168200	Weak transcription	Fetal Brain Female	brain
41	chr11:94163000-94168200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:94163000-94168800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:94163000-94169000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:94163000-94169200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:94163000-94169200	Weak transcription	Lung	lung
46	chr11:94163000-94169200	Weak transcription	Spleen	Spleen
47	chr11:94163000-94169200	Weak transcription	A549	lung
48	chr11:94163000-94169400	Weak transcription	HSMM	muscle
49	chr11:94163000-94170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:94163000-94171600	Weak transcription	Fetal Heart	heart

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