Variant report

Variant	rs948575
Chromosome Location	chr11:94216131-94216132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94213824..94217124-chr11:94225921..94227775,3	MCF-7	breast:
2	chr11:94209182..94211578-chr11:94214221..94216536,2	K562	blood:
3	chr11:94213449..94216550-chr11:94217098..94220299,3	K562	blood:

Variant related genes	Relation type
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs10831225	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020802	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12224966	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1257769	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1272743	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3017077	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs473297	0.81[CEU][hapmap]
rs474577	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs509723	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs509744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs512150	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs518640	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs522596	0.80[CHB][hapmap]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs529126	0.83[CHB][hapmap]
rs530569	0.81[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs535801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540199	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550255	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs552126	0.80[CEU][hapmap]
rs56108804	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs563807	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584707	0.80[CEU][hapmap]
rs588701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs592068	0.82[CHB][hapmap]
rs59678918	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs603937	0.85[CHB][hapmap]
rs625245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs639311	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641936	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs657249	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs680695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs684507	0.81[CEU][hapmap]
rs693815	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]

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
rs948575	MRE11A	cis	Whole Blood	GTEx
rs948575	RP11-685N10.1	cis	Stomach	GTEx
rs948575	MRE11A	cis	Heart Left Ventricle	GTEx
rs948575	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs948575	RP11-685N10.1	cis	Thyroid	GTEx
rs948575	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs948575	MRE11A	cis	Esophagus Muscularis	GTEx
rs948575	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs948575	MRE11A	cis	Nerve Tibial	GTEx
rs948575	MRE11A	cis	Artery Aorta	GTEx
rs948575	MRE11A	cis	lung	GTEx
rs948575	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs948575	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs948575	RP11-685N10.1	cis	lung	GTEx
rs948575	MRE11A	cis	Stomach	GTEx
rs948575	MRE11A	cis	Artery Tibial	GTEx
rs948575	RP11-685N10.1	cis	Artery Tibial	GTEx
rs948575	MRE11A	cis	Thyroid	GTEx
rs948575	MRE11A	cis	Esophagus Mucosa	GTEx
rs948575	MRE11A	cis	Adipose Subcutaneous	GTEx
rs948575	RP11-685N10.1	cis	Artery Aorta	GTEx
rs948575	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs948575	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs948575	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs948575	RP11-685N10.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
4	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
7	chr11:94166600-94216400	Weak transcription	Gastric	stomach
8	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
9	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
11	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
14	chr11:94183200-94222200	Weak transcription	HMEC	breast
15	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:94183600-94225800	Weak transcription	NHLF	lung
17	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
18	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
21	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
23	chr11:94197200-94222600	Strong transcription	Dnd41	blood
24	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
26	chr11:94197800-94216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:94199800-94222400	Weak transcription	NHEK	skin
30	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:94205800-94224000	Strong transcription	Liver	Liver
33	chr11:94206400-94217600	Weak transcription	NH-A	brain
34	chr11:94206600-94216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:94206600-94217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:94206800-94217200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:94206800-94217200	Weak transcription	A549	lung
40	chr11:94206800-94219600	Weak transcription	HUVEC	blood vessel
41	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:94207400-94224000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:94207600-94216600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:94207600-94221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:94208000-94224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:94208000-94224600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:94208000-94225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:94208200-94223800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:94208400-94216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:94208400-94222400	Weak transcription	Rectal Smooth Muscle	rectum

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