Variant report

Variant	rs493982
Chromosome Location	chr11:94225508-94225509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93473689..93475609-chr11:94224502..94227416,2	K562	blood:
2	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
3	chr11:94223520..94226395-chr11:94275795..94278274,2	K562	blood:
4	chr11:94200661..94202892-chr11:94224214..94225865,2	K562	blood:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1014666	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020799	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1270146	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508460	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2508784	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509321	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2509324	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2509943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4342993	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4593974	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs472344	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473297	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476137	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs482629	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs486556	0.83[EUR][1000 genomes]
rs489200	0.82[EUR][1000 genomes]
rs492001	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs496190	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496797	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500558	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs524350	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525057	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs525921	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs536768	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs544337	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs547207	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs553634	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs557148	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569143	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571044	0.81[EUR][1000 genomes]
rs582049	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs582077	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs610899	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs612075	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612632	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs614424	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs621562	0.86[EUR][1000 genomes]
rs622961	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs628079	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628164	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs628728	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs629119	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs629156	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs642744	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs647249	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6483341	0.89[EUR][1000 genomes]
rs659349	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs662572	0.84[EUR][1000 genomes]
rs682213	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs684507	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693815	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs695093	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv1794580	chr11:94224060-94227993	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv1796910	chr11:94224060-94227993	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs493982	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs493982	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs493982	MRE11A	cis	Stomach	GTEx
rs493982	MRE11A	cis	Adipose Subcutaneous	GTEx
rs493982	MRE11A	cis	Esophagus Muscularis	GTEx
rs493982	MRE11A	cis	Esophagus Mucosa	GTEx
rs493982	RP11-685N10.1	cis	Thyroid	GTEx
rs493982	RP11-685N10.1	cis	lung	GTEx
rs493982	RP11-685N10.1	cis	Stomach	GTEx
rs493982	MRE11A	cis	Artery Tibial	GTEx
rs493982	MRE11A	cis	Heart Left Ventricle	GTEx
rs493982	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs493982	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs493982	MRE11A	cis	Artery Aorta	GTEx
rs493982	MRE11A	cis	Nerve Tibial	GTEx
rs493982	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs493982	RP11-685N10.1	cis	Artery Tibial	GTEx
rs493982	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs493982	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs493982	RP11-685N10.1	cis	Artery Aorta	GTEx
rs493982	MRE11A	cis	Thyroid	GTEx
rs493982	MRE11A	cis	lung	GTEx
rs493982	RP11-685N10.1	cis	Heart Left Ventricle	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	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
5	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
6	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
8	chr11:94183600-94225800	Weak transcription	NHLF	lung
9	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
10	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
11	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:94208000-94225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:94210200-94226200	Weak transcription	Aorta	Aorta
17	chr11:94211200-94226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:94214200-94226000	Weak transcription	HSMMtube	muscle
19	chr11:94216000-94225800	Weak transcription	Osteobl	bone
20	chr11:94216800-94226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:94217000-94225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:94217000-94226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:94217000-94226400	Weak transcription	Gastric	stomach
24	chr11:94217000-94226600	Weak transcription	Spleen	Spleen
25	chr11:94218000-94225800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:94221400-94225800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:94222000-94225800	Weak transcription	Brain Anterior Caudate	brain
28	chr11:94222000-94225800	Weak transcription	Fetal Kidney	kidney
29	chr11:94222600-94225800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:94222600-94226200	Weak transcription	Right Ventricle	heart
31	chr11:94223000-94225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:94223200-94226000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:94223400-94225800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:94223400-94225800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:94223600-94225800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:94223600-94225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:94223600-94225800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:94223600-94225800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:94223600-94225800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:94223600-94225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:94223600-94225800	Weak transcription	Fetal Stomach	stomach
42	chr11:94223600-94225800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:94223600-94225800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:94223600-94225800	Weak transcription	NH-A	brain
45	chr11:94223600-94226000	Weak transcription	Ovary	ovary
46	chr11:94223600-94226200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:94223600-94226400	Weak transcription	Left Ventricle	heart
48	chr11:94223600-94226400	Weak transcription	Lung	lung
49	chr11:94223800-94225600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:94223800-94225600	Weak transcription	A549	lung

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