Variant report

Variant	rs1133572
Chromosome Location	chr11:94150228-94150229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1014666	0.81[AFR][1000 genomes]
rs2508678	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475531	0.80[AFR][1000 genomes]
rs482629	0.84[AFR][1000 genomes]
rs498999	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs499952	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs518276	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533984	0.87[EUR][1000 genomes]
rs541472	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576948	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601341	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675478	0.85[EUR][1000 genomes]
rs682213	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	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
4	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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1133572	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs1133572	MRE11A	cis	Esophagus Mucosa	GTEx
rs1133572	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs1133572	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs1133572	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs1133572	MRE11A	cis	Artery Tibial	GTEx
rs1133572	MRE11A	cis	lung	GTEx
rs1133572	MRE11A	cis	Adipose Subcutaneous	GTEx
rs1133572	MRE11A	cis	Esophagus Muscularis	GTEx
rs1133572	MRE11A	cis	Stomach	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

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	chr11:94141200-94155000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:94141800-94156600	Weak transcription	Spleen	Spleen
6	chr11:94142000-94154800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:94142600-94154800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:94142800-94152200	Weak transcription	Liver	Liver
10	chr11:94142800-94156000	Weak transcription	Thymus	Thymus
11	chr11:94143000-94150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:94143200-94156400	Weak transcription	Fetal Stomach	stomach
13	chr11:94143400-94156400	Weak transcription	Gastric	stomach
14	chr11:94143600-94154800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:94143600-94156400	Weak transcription	Lung	lung
16	chr11:94143800-94151600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:94143800-94156200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:94143800-94156400	Weak transcription	Ovary	ovary
19	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
20	chr11:94144400-94153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:94145000-94156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:94145200-94152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:94145400-94154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:94146200-94156400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:94146400-94161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:94146600-94152000	Weak transcription	A549	lung
29	chr11:94146600-94153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:94146600-94154800	Weak transcription	Fetal Thymus	thymus
31	chr11:94146800-94156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:94146800-94156800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:94146800-94156800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:94146800-94156800	Weak transcription	Fetal Lung	lung
35	chr11:94146800-94157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:94146800-94160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:94146800-94161400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:94147000-94154400	Weak transcription	GM12878-XiMat	blood
39	chr11:94147000-94155000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:94147000-94156600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:94147200-94154800	Weak transcription	Left Ventricle	heart
42	chr11:94147200-94156400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:94147200-94156600	Weak transcription	Right Ventricle	heart
44	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:94147400-94153600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:94147400-94161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:94147600-94153600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:94147600-94154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:94147600-94154800	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:94147600-94161000	Weak transcription	Brain Hippocampus Middle	brain

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