Variant report

Variant	rs622961
Chromosome Location	chr11:94154902-94154903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1014666	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020799	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1270146	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508460	0.81[EUR][1000 genomes]
rs2508678	0.89[YRI][hapmap]
rs2508784	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2509943	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs472344	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs473297	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs475531	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476137	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482629	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs486556	0.83[EUR][1000 genomes]
rs489200	0.82[EUR][1000 genomes]
rs493982	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs496190	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs496797	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs497763	0.88[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499952	0.89[YRI][hapmap]
rs500558	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs518276	0.85[YRI][hapmap]
rs524350	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544337	0.83[EUR][1000 genomes]
rs547207	0.80[EUR][1000 genomes]
rs553634	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs557148	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs569143	0.88[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs571044	0.81[EUR][1000 genomes]
rs582077	0.80[EUR][1000 genomes]
rs601341	0.86[YRI][hapmap]
rs610899	0.84[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs621562	0.86[EUR][1000 genomes]
rs628728	0.80[EUR][1000 genomes]
rs6483341	0.92[CEU][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs659349	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs662572	0.84[EUR][1000 genomes]
rs682213	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs684507	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693815	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs695093	0.80[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs622961	MRE11A	cis	Thyroid	GTEx
rs622961	MRE11A	cis	lymphoblastoid	seeQTL
rs622961	MRE11A	cis	Esophagus Mucosa	GTEx
rs622961	GPR83	cis	parietal	SCAN
rs622961	MRE11A	cis	lung	GTEx
rs622961	RP11-685N10.1	cis	Stomach	GTEx
rs622961	MRE11A	cis	Stomach	GTEx
rs622961	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs622961	RP11-685N10.1	cis	lung	GTEx
rs622961	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs622961	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs622961	MRE11A	cis	multi-tissue	Pritchard
rs622961	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs622961	MRE11A	cis	parietal	SCAN
rs622961	RP11-685N10.1	cis	Artery Aorta	GTEx
rs622961	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs622961	MRE11A	cis	Artery Tibial	GTEx
rs622961	RP11-685N10.1	cis	Thyroid	GTEx
rs622961	MRE11A	cis	Heart Left Ventricle	GTEx
rs622961	RP11-685N10.1	cis	Artery Tibial	GTEx
rs622961	MRE11A	cis	Esophagus Muscularis	GTEx
rs622961	MRE11A	cis	cerebellum	SCAN
rs622961	MRE11A	cis	Adipose Subcutaneous	GTEx
rs622961	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs622961	MRE11A	cis	Nerve Tibial	GTEx

Chromatin state (count:104 , 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	chr11:94141200-94155000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:94141800-94156600	Weak transcription	Spleen	Spleen
6	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:94142800-94156000	Weak transcription	Thymus	Thymus
8	chr11:94143200-94156400	Weak transcription	Fetal Stomach	stomach
9	chr11:94143400-94156400	Weak transcription	Gastric	stomach
10	chr11:94143600-94156400	Weak transcription	Lung	lung
11	chr11:94143800-94156200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:94143800-94156400	Weak transcription	Ovary	ovary
13	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
14	chr11:94145000-94156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:94146200-94156400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:94146400-94161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:94146800-94156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:94146800-94156800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:94146800-94156800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:94146800-94156800	Weak transcription	Fetal Lung	lung
23	chr11:94146800-94157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:94146800-94160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:94146800-94161400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:94147000-94155000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:94147000-94156600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:94147200-94156400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:94147200-94156600	Weak transcription	Right Ventricle	heart
30	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:94147400-94161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:94147600-94161000	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:94147600-94162000	Weak transcription	HepG2	liver
34	chr11:94147800-94161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:94148800-94156000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:94149000-94156200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:94149000-94156800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:94149200-94161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:94149400-94155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:94149400-94156600	Weak transcription	Fetal Brain Female	brain
42	chr11:94149600-94161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:94150000-94155400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:94150000-94156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:94150000-94161000	Weak transcription	Fetal Brain Male	brain
47	chr11:94150200-94156600	Weak transcription	Esophagus	oesophagus
48	chr11:94150200-94162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:94150200-94167200	Weak transcription	NH-A	brain
50	chr11:94150600-94161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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