Variant report

Variant	rs659349
Chromosome Location	chr11:94217656-94217657
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	chr11:94210098..94212202-chr11:94216700..94218600,2	K562	blood:
2	chr11:94213449..94216550-chr11:94217098..94220299,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014666	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11020799	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270146	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2508678	0.84[CHB][hapmap]
rs2508784	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509321	0.82[AMR][1000 genomes]
rs2509324	0.80[AMR][1000 genomes]
rs2509943	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4342993	0.82[AMR][1000 genomes]
rs4593974	0.82[AMR][1000 genomes]
rs472344	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473297	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs475531	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs476137	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs482629	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs492001	0.83[AMR][1000 genomes]
rs493982	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496190	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs496797	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497763	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500558	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs518276	0.84[CHB][hapmap]
rs524350	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs525057	0.83[AMR][1000 genomes]
rs525921	0.83[AMR][1000 genomes]
rs535801	0.83[CEU][hapmap]
rs536768	0.83[AMR][1000 genomes]
rs541472	0.84[CHB][hapmap]
rs547207	0.83[AMR][1000 genomes]
rs553634	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs557148	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]
rs569143	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs582049	0.83[AMR][1000 genomes]
rs582077	0.83[AMR][1000 genomes]
rs610899	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs612075	0.83[AMR][1000 genomes]
rs612632	0.83[AMR][1000 genomes]
rs614424	0.83[AMR][1000 genomes]
rs622961	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]
rs628079	0.83[AMR][1000 genomes]
rs628164	0.82[AMR][1000 genomes]
rs628728	0.83[AMR][1000 genomes]
rs629119	0.83[AMR][1000 genomes]
rs629156	0.83[AMR][1000 genomes]
rs642744	0.83[AMR][1000 genomes]
rs647249	0.82[AMR][1000 genomes]
rs6483341	0.82[EUR][1000 genomes]
rs682213	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs684507	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs659349	MRE11A	cis	Whole Blood	GTEx
rs659349	MRE11A	cis	Esophagus Mucosa	GTEx
rs659349	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs659349	RP11-685N10.1	cis	Thyroid	GTEx
rs659349	MRE11A	cis	Heart Left Ventricle	GTEx
rs659349	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs659349	RP11-685N10.1	cis	Artery Tibial	GTEx
rs659349	RP11-685N10.1	cis	Artery Aorta	GTEx
rs659349	MRE11A	cis	lung	GTEx
rs659349	MRE11A	cis	Artery Tibial	GTEx
rs659349	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs659349	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs659349	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs659349	MRE11A	cis	Stomach	GTEx
rs659349	MRE11A	cis	Nerve Tibial	GTEx
rs659349	MRE11A	cis	Esophagus Muscularis	GTEx
rs659349	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs659349	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs659349	MRE11A	cis	Adipose Subcutaneous	GTEx
rs659349	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs659349	RP11-685N10.1	cis	Stomach	GTEx
rs659349	RP11-685N10.1	cis	lung	GTEx
rs659349	MRE11A	cis	Artery Aorta	GTEx
rs659349	MRE11A	cis	Thyroid	GTEx
rs659349	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
3	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
5	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
6	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
8	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
10	chr11:94183200-94222200	Weak transcription	HMEC	breast
11	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:94183600-94225800	Weak transcription	NHLF	lung
13	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
14	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
15	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
17	chr11:94197200-94222600	Strong transcription	Dnd41	blood
18	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
20	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:94199800-94222400	Weak transcription	NHEK	skin
23	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:94205800-94224000	Strong transcription	Liver	Liver
26	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:94206800-94219600	Weak transcription	HUVEC	blood vessel
29	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:94207400-94224000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:94207600-94221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:94208000-94224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:94208000-94224600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:94208000-94225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:94208200-94223800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:94208400-94222400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:94208600-94224000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:94208800-94223800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:94209000-94223800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:94210200-94226200	Weak transcription	Aorta	Aorta
41	chr11:94210600-94218400	Strong transcription	Fetal Intestine Large	intestine
42	chr11:94211200-94224000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:94211200-94226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:94211800-94218200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:94213000-94223800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:94213000-94224000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:94213000-94224000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:94213000-94224000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:94213200-94218000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr11:94213400-94217800	Strong transcription	Primary hematopoietic stem cells	blood

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