Variant report

Variant	rs541472
Chromosome Location	chr11:94158883-94158884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1014666	0.83[CHB][hapmap];0.82[AFR][1000 genomes]
rs1133572	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508678	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475531	0.82[AFR][1000 genomes]
rs482629	0.86[AFR][1000 genomes]
rs498999	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499952	1.00[ASW][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.87[MKK][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500558	0.81[CHB][hapmap]
rs518276	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]
rs533984	0.91[CEU][hapmap];0.93[CHD][hapmap];0.85[MKK][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs576948	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs601341	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs659349	0.84[CHB][hapmap]
rs675478	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs682213	0.87[CHB][hapmap];0.83[AFR][1000 genomes]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs541472	MRE11A	cis	Adipose Subcutaneous	GTEx
rs541472	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs541472	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs541472	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs541472	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs541472	MRE11A	cis	Esophagus Mucosa	GTEx
rs541472	MRE11A	cis	Artery Tibial	GTEx
rs541472	MRE11A	cis	Stomach	GTEx
rs541472	MRE11A	cis	lung	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
2	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
6	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:94146400-94161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:94146800-94160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:94146800-94161400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:94147400-94161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:94147600-94161000	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:94147600-94162000	Weak transcription	HepG2	liver
15	chr11:94147800-94161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:94149200-94161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:94149600-94161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:94150000-94161000	Weak transcription	Fetal Brain Male	brain
21	chr11:94150200-94162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:94150200-94167200	Weak transcription	NH-A	brain
23	chr11:94150600-94161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:94151200-94161000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
27	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
28	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:94152400-94162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:94153000-94161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:94153000-94167000	Weak transcription	K562	blood
32	chr11:94153200-94161200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:94153400-94159000	Weak transcription	A549	lung
35	chr11:94153400-94161400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:94153600-94160400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:94154600-94159200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:94154800-94159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:94154800-94159000	Strong transcription	Fetal Thymus	thymus
41	chr11:94154800-94159400	Strong transcription	Dnd41	blood
42	chr11:94154800-94160000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:94154800-94163000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:94154800-94163400	Strong transcription	Adipose Nuclei	Adipose
45	chr11:94155000-94160400	Weak transcription	Brain Germinal Matrix	brain
46	chr11:94155000-94160400	Weak transcription	NHEK	skin
47	chr11:94155000-94166200	Weak transcription	Small Intestine	intestine
48	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
49	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:94155200-94159200	Strong transcription	Fetal Intestine Large	intestine

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