Variant report

Variant	rs529126
Chromosome Location	chr11:94194303-94194304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94183974..94185530-chr11:94194298..94197151,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11020803	0.83[CHB][hapmap]
rs12292294	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1257774	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447646	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499952	0.82[CEU][hapmap]
rs509744	0.90[CHB][hapmap]
rs512150	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs516381	0.80[EUR][1000 genomes]
rs521669	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs522596	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs535801	0.83[CHB][hapmap]
rs540514	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs547289	0.80[EUR][1000 genomes]
rs552126	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581002	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584707	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs592068	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598599	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601341	0.82[CEU][hapmap]
rs603937	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607146	0.83[AMR][1000 genomes]
rs607974	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs625245	0.82[CHB][hapmap]
rs640627	1.00[ASW][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641936	0.86[AFR][1000 genomes]
rs663530	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs680695	0.83[CHB][hapmap]
rs687109	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948575	0.83[CHB][hapmap]

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	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
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers 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	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs529126	MRE11A	cis	Adipose Subcutaneous	GTEx
rs529126	RP11-685N10.1	cis	Artery Aorta	GTEx
rs529126	MRE11A	cis	cerebellum	SCAN
rs529126	MRE11A	cis	parietal	SCAN
rs529126	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs529126	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs529126	MRE11A	cis	lung	GTEx
rs529126	MRE11A	cis	Artery Tibial	GTEx
rs529126	MRE11A	cis	Esophagus Mucosa	GTEx
rs529126	MRE11A	cis	Stomach	GTEx
rs529126	MRE11A	cis	Whole Blood	GTEx
rs529126	MRE11A	cis	Esophagus Muscularis	GTEx
rs529126	MAML2	cis	cerebellum	SCAN
rs529126	MRE11A	cis	Thyroid	GTEx
rs529126	RP11-685N10.1	cis	Artery Tibial	GTEx
rs529126	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs529126	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs529126	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs529126	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs529126	RP11-685N10.1	cis	Thyroid	GTEx
rs529126	RP11-685N10.1	cis	Stomach	GTEx
rs529126	RP11-685N10.1	cis	lung	GTEx
rs529126	MRE11A	cis	Nerve Tibial	GTEx
rs529126	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs529126	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs529126	RP11-685N10.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
5	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
11	chr11:94166600-94216400	Weak transcription	Gastric	stomach
12	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
13	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
15	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
20	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
21	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:94180600-94202800	Weak transcription	Brain Anterior Caudate	brain
26	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:94180800-94198800	Weak transcription	Thymus	Thymus
28	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:94180800-94215800	Weak transcription	Lung	lung
30	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
31	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:94183000-94205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:94183200-94222200	Weak transcription	HMEC	breast
34	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:94183600-94225800	Weak transcription	NHLF	lung
36	chr11:94183800-94196000	Weak transcription	Osteobl	bone
37	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
38	chr11:94185600-94194600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:94185800-94195400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:94186000-94194600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:94186200-94194400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:94186400-94195200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:94186600-94199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:94187400-94194800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:94188400-94194600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:94188400-94195800	Strong transcription	Dnd41	blood
47	chr11:94188800-94194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:94189200-94196000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:94189600-94201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:94189800-94194600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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