Variant report

Variant	rs500558
Chromosome Location	chr11:94170674-94170675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94169718..94171277-chr11:94176565..94179417,2	K562	blood:
2	chr11:94170626..94172978-chr11:94174814..94177499,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1014666	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020799	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11020803	0.80[CEU][hapmap]
rs12224966	0.80[CEU][hapmap]
rs1270146	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2508460	0.83[EUR][1000 genomes]
rs2508678	0.81[CHB][hapmap];0.92[YRI][hapmap]
rs2508784	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2509321	0.80[EUR][1000 genomes]
rs2509943	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4593974	0.80[EUR][1000 genomes]
rs472344	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs473297	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs475531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs476137	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs482629	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs486556	0.86[EUR][1000 genomes]
rs489200	0.85[EUR][1000 genomes]
rs492001	0.81[EUR][1000 genomes]
rs493982	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs496190	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496797	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs497763	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs499952	0.92[YRI][hapmap]
rs518276	0.84[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs524350	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs525057	0.84[CEU][hapmap]
rs525921	0.84[CEU][hapmap]
rs533984	0.84[CEU][hapmap]
rs536768	0.82[EUR][1000 genomes]
rs541472	0.81[CHB][hapmap]
rs544337	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs547207	0.82[EUR][1000 genomes]
rs550255	0.80[CEU][hapmap]
rs553634	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557148	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]
rs569143	0.80[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs571044	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs582049	0.81[EUR][1000 genomes]
rs582077	0.82[EUR][1000 genomes]
rs588701	0.80[CEU][hapmap]
rs601341	0.92[YRI][hapmap]
rs610899	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612075	0.82[EUR][1000 genomes]
rs612632	0.82[EUR][1000 genomes]
rs614424	0.82[EUR][1000 genomes]
rs621562	0.89[EUR][1000 genomes]
rs622961	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]
rs625245	0.80[CEU][hapmap]
rs628079	0.84[CEU][hapmap]
rs628728	0.82[EUR][1000 genomes]
rs629119	0.81[EUR][1000 genomes]
rs629156	0.81[EUR][1000 genomes]
rs642744	0.81[EUR][1000 genomes]
rs6483341	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs659349	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs662572	0.87[EUR][1000 genomes]
rs682213	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs684507	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693815	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs695093	0.84[CEU][hapmap];0.83[EUR][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:21)

SNP	Gene	Cis/trans	Tissue	Source
rs500558	MRE11A	cis	Nerve Tibial	GTEx
rs500558	RP11-685N10.1	cis	Artery Tibial	GTEx
rs500558	MRE11A	cis	Stomach	GTEx
rs500558	MRE11A	cis	Artery Tibial	GTEx
rs500558	RP11-685N10.1	cis	Artery Aorta	GTEx
rs500558	RP11-685N10.1	cis	lung	GTEx
rs500558	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs500558	MRE11A	cis	Heart Left Ventricle	GTEx
rs500558	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs500558	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs500558	MRE11A	cis	Thyroid	GTEx
rs500558	MRE11A	cis	Esophagus Muscularis	GTEx
rs500558	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs500558	MRE11A	cis	Esophagus Mucosa	GTEx
rs500558	MRE11A	cis	Adipose Subcutaneous	GTEx
rs500558	RP11-685N10.1	cis	Stomach	GTEx
rs500558	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs500558	RP11-685N10.1	cis	Thyroid	GTEx
rs500558	MRE11A	cis	lung	GTEx
rs500558	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs500558	RP11-685N10.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
3	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
12	chr11:94157600-94182200	Weak transcription	Osteobl	bone
13	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
14	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:94161000-94183000	Strong transcription	Dnd41	blood
16	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:94163000-94170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:94163000-94171600	Weak transcription	Fetal Heart	heart
22	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
24	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
25	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:94163200-94177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:94163200-94179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
31	chr11:94166200-94171000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:94166400-94179800	Weak transcription	NHEK	skin
33	chr11:94166600-94216400	Weak transcription	Gastric	stomach
34	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
35	chr11:94167000-94170800	Strong transcription	Hela-S3	cervix
36	chr11:94167200-94176400	Weak transcription	Ovary	ovary
37	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
39	chr11:94167600-94178200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:94167800-94171000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:94168000-94178200	Weak transcription	NH-A	brain
43	chr11:94168400-94175600	Weak transcription	Fetal Kidney	kidney
44	chr11:94168400-94176200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:94168400-94178200	Weak transcription	Fetal Lung	lung
46	chr11:94168600-94170800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:94168600-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:94168800-94180200	Weak transcription	Thymus	Thymus
49	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:94169000-94177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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