Variant report

Variant	rs1014666
Chromosome Location	chr11:94179125-94179126
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:

Extended variants
information (count: 72 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10831225	0.81[CEU][hapmap]
rs11020799	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020803	0.81[CEU][hapmap]
rs1133572	0.81[AFR][1000 genomes]
rs12224966	0.81[CEU][hapmap]
rs1270146	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2508460	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2508678	0.83[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs2508784	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2509321	0.81[EUR][1000 genomes]
rs2509943	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3017077	0.81[CEU][hapmap]
rs4342993	0.81[EUR][1000 genomes]
rs4593974	0.81[EUR][1000 genomes]
rs472344	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs473297	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs475531	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476137	0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs482629	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs486556	0.87[EUR][1000 genomes]
rs489200	0.86[EUR][1000 genomes]
rs492001	0.82[EUR][1000 genomes]
rs493982	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs496190	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496797	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs497763	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs498999	0.84[AFR][1000 genomes]
rs499952	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs500558	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]
rs518276	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[YRI][hapmap]
rs524350	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs525057	0.84[CEU][hapmap];0.87[MEX][hapmap]
rs525921	0.84[CEU][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs533984	0.81[CEU][hapmap]
rs536768	0.83[EUR][1000 genomes]
rs540199	0.81[CEU][hapmap]
rs541472	0.83[CHB][hapmap];0.82[AFR][1000 genomes]
rs544337	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs547207	0.83[EUR][1000 genomes]
rs550255	0.81[CEU][hapmap]
rs553634	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs557148	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]
rs569143	0.93[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571044	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs582049	0.82[EUR][1000 genomes]
rs582077	0.83[EUR][1000 genomes]
rs588701	0.81[CEU][hapmap]
rs601341	0.86[YRI][hapmap]
rs610899	0.92[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs612075	0.83[EUR][1000 genomes]
rs612632	0.83[EUR][1000 genomes]
rs614424	0.83[EUR][1000 genomes]
rs621562	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs622961	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]
rs625245	0.81[CEU][hapmap]
rs628079	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs628728	0.83[EUR][1000 genomes]
rs629119	0.82[EUR][1000 genomes]
rs629156	0.82[EUR][1000 genomes]
rs642744	0.82[EUR][1000 genomes]
rs6483341	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs654718	0.81[CEU][hapmap]
rs658234	0.83[MEX][hapmap]
rs659349	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs662572	0.88[EUR][1000 genomes]
rs682213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684507	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs693815	0.84[CEU][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs695093	0.84[CEU][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs948575	0.81[CEU][hapmap]

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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs1014666	MRE11A	cis	lung	GTEx
rs1014666	RP11-685N10.1	cis	Stomach	GTEx
rs1014666	MRE11A	cis	Stomach	GTEx
rs1014666	MRE11A	cis	cerebellum	SCAN
rs1014666	GPR83	cis	parietal	SCAN
rs1014666	RP11-685N10.1	cis	lung	GTEx
rs1014666	MRE11A	cis	Esophagus Mucosa	GTEx
rs1014666	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs1014666	RP11-685N10.1	cis	Artery Aorta	GTEx
rs1014666	ABLIM1	trans	lymphoblastoid	seeQTL
rs1014666	MRE11A	cis	Adipose Subcutaneous	GTEx
rs1014666	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs1014666	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs1014666	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs1014666	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs1014666	MRE11A	cis	Thyroid	GTEx
rs1014666	MRE11A	cis	Heart Left Ventricle	GTEx
rs1014666	MRE11A	cis	Esophagus Muscularis	GTEx
rs1014666	MRE11A	cis	Artery Tibial	GTEx
rs1014666	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs1014666	RP11-685N10.1	cis	Artery Tibial	GTEx
rs1014666	MRE11A	cis	Nerve Tibial	GTEx
rs1014666	MRE11A	cis	parietal	SCAN
rs1014666	RP11-685N10.1	cis	Thyroid	GTEx
rs1014666	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:120 , 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	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:94157600-94182200	Weak transcription	Osteobl	bone
7	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
8	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:94161000-94183000	Strong transcription	Dnd41	blood
10	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
14	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
15	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
19	chr11:94166400-94179800	Weak transcription	NHEK	skin
20	chr11:94166600-94216400	Weak transcription	Gastric	stomach
21	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
22	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
24	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:94168600-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:94168800-94180200	Weak transcription	Thymus	Thymus
27	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:94170000-94180000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:94170000-94180400	Weak transcription	Lung	lung
32	chr11:94170000-94182000	Weak transcription	NHDF-Ad	bronchial
33	chr11:94170000-94182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:94170000-94192600	Weak transcription	Aorta	Aorta
35	chr11:94170000-94192800	Weak transcription	Right Ventricle	heart
36	chr11:94170000-94192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:94170000-94194200	Weak transcription	Spleen	Spleen
38	chr11:94170200-94192400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:94170400-94192200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:94171200-94183000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:94172200-94190200	Weak transcription	K562	blood
42	chr11:94172400-94183200	Strong transcription	Primary T cells from cord blood	blood
43	chr11:94172800-94181800	Strong transcription	Fetal Thymus	thymus
44	chr11:94172800-94183000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:94172800-94183200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:94173000-94180600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:94173000-94180600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:94173800-94180400	Strong transcription	Hela-S3	cervix
49	chr11:94174000-94180600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:94174600-94179200	Weak transcription	Brain Germinal Matrix	brain

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