Variant report

Variant	rs11020799
Chromosome Location	chr11:94218711-94218712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94217826..94221118-chr11:94222264..94225071,4	K562	blood:
2	chr11:94217659..94221782-chr11:94225032..94227665,4	K562	blood:
3	chr11:94213449..94216550-chr11:94217098..94220299,3	K562	blood:

Variant related genes	Relation type
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1014666	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]
rs1270146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508784	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs472344	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473297	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475531	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs476137	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs482629	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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];0.98[ASN][1000 genomes]
rs496190	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496797	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs499952	0.81[CEU][hapmap]
rs500558	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]
rs524350	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs557148	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]
rs569143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs571044	0.83[AMR][1000 genomes]
rs610899	0.87[JPT][hapmap]
rs621562	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs622961	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6483341	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659349	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]
rs662572	0.83[AMR][1000 genomes]
rs682213	0.82[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684507	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs695093	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:23)

SNP	Gene	Cis/trans	Tissue	Source
rs11020799	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs11020799	MRE11A	cis	lung	GTEx
rs11020799	MRE11A	cis	Heart Left Ventricle	GTEx
rs11020799	RP11-685N10.1	cis	lung	GTEx
rs11020799	MRE11A	cis	Esophagus Mucosa	GTEx
rs11020799	MRE11A	cis	Thyroid	GTEx
rs11020799	RP11-685N10.1	cis	Stomach	GTEx
rs11020799	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs11020799	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs11020799	MRE11A	cis	Artery Aorta	GTEx
rs11020799	RP11-685N10.1	cis	Artery Aorta	GTEx
rs11020799	MRE11A	cis	Nerve Tibial	GTEx
rs11020799	MRE11A	cis	Adipose Subcutaneous	GTEx
rs11020799	MRE11A	cis	Esophagus Muscularis	GTEx
rs11020799	RP11-685N10.1	cis	Artery Tibial	GTEx
rs11020799	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs11020799	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs11020799	MRE11A	cis	Stomach	GTEx
rs11020799	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs11020799	MRE11A	cis	Artery Tibial	GTEx
rs11020799	RP11-685N10.1	cis	Thyroid	GTEx
rs11020799	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs11020799	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	chr11:94211200-94224000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:94211200-94226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:94213000-94223800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:94213000-94224000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:94213000-94224000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:94213000-94224000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:94213400-94223800	Strong transcription	Primary B cells from cord blood	blood
48	chr11:94213400-94224000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:94213400-94224000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:94213400-94224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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