Variant report

Variant	rs557148
Chromosome Location	chr11:94214839-94214840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94210078..94211620-chr11:94214056..94215721,2	K562	blood:
2	chr11:94213539..94215601-chr11:94228089..94230235,2	K562	blood:
3	chr11:94213824..94217124-chr11:94225921..94227775,3	MCF-7	breast:
4	chr11:94213347..94215361-chr11:94222222..94224695,2	K562	blood:
5	chr11:94209182..94211578-chr11:94214221..94216536,2	K562	blood:
6	chr11:94213449..94216550-chr11:94217098..94220299,3	K562	blood:

Variant related genes	Relation type
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1270146	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508784	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2509943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3758787	0.82[MKK][hapmap]
rs472344	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs473297	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs475531	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476137	0.85[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482629	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486556	0.84[AMR][1000 genomes]
rs489200	0.84[AMR][1000 genomes]
rs493982	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496190	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496797	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497763	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500558	0.80[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs509744	0.81[CEU][hapmap]
rs524350	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571044	0.83[AMR][1000 genomes]
rs610611	0.84[LWK][hapmap];0.86[MKK][hapmap]
rs610899	0.86[JPT][hapmap]
rs621562	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs622961	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]
rs6483341	0.81[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659349	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662572	0.83[AMR][1000 genomes]
rs682213	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684507	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs693815	0.83[MEX][hapmap]
rs695093	0.92[MEX][hapmap];0.84[AMR][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	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
rs557148	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs557148	GPR83	cis	parietal	SCAN
rs557148	MRE11A	cis	Artery Aorta	GTEx
rs557148	MRE11A	cis	Adipose Subcutaneous	GTEx
rs557148	RP11-685N10.1	cis	Artery Tibial	GTEx
rs557148	MRE11A	cis	Heart Left Ventricle	GTEx
rs557148	RP11-685N10.1	cis	lung	GTEx
rs557148	RP11-685N10.1	cis	Artery Aorta	GTEx
rs557148	MRE11A	cis	Esophagus Muscularis	GTEx
rs557148	RP11-685N10.1	cis	Stomach	GTEx
rs557148	MRE11A	cis	Artery Tibial	GTEx
rs557148	MRE11A	cis	cerebellum	SCAN
rs557148	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs557148	MRE11A	cis	Thyroid	GTEx
rs557148	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs557148	MRE11A	cis	Stomach	GTEx
rs557148	RP11-685N10.1	cis	Thyroid	GTEx
rs557148	MRE11A	cis	Nerve Tibial	GTEx
rs557148	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs557148	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs557148	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs557148	MRE11A	cis	lung	GTEx
rs557148	MRE11A	cis	Esophagus Mucosa	GTEx
rs557148	MRE11A	cis	parietal	SCAN
rs557148	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs557148	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
4	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
7	chr11:94166600-94216400	Weak transcription	Gastric	stomach
8	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
9	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
12	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:94180800-94215800	Weak transcription	Lung	lung
15	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
16	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
17	chr11:94183200-94222200	Weak transcription	HMEC	breast
18	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:94183600-94225800	Weak transcription	NHLF	lung
20	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
21	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
24	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
26	chr11:94195200-94215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:94197200-94222600	Strong transcription	Dnd41	blood
28	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
30	chr11:94197800-94216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:94199800-94222400	Weak transcription	NHEK	skin
34	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:94203200-94216000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:94203400-94215600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:94204200-94215200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:94205800-94224000	Strong transcription	Liver	Liver
40	chr11:94206400-94217600	Weak transcription	NH-A	brain
41	chr11:94206600-94216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:94206600-94217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:94206800-94215600	Weak transcription	HepG2	liver
46	chr11:94206800-94217200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:94206800-94217200	Weak transcription	A549	lung
48	chr11:94206800-94219600	Weak transcription	HUVEC	blood vessel
49	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:94207400-94224000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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