Variant report

Variant	rs640627
Chromosome Location	chr11:94197568-94197569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93472910..93474648-chr11:94197238..94199366,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11020767	0.86[EUR][1000 genomes]
rs12292294	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1257774	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447646	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512150	0.83[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs516381	0.83[EUR][1000 genomes]
rs521669	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs522596	0.83[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs529126	1.00[ASW][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540514	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547289	0.83[EUR][1000 genomes]
rs552126	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581002	0.85[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584707	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs592068	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598599	0.87[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603937	0.89[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607146	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs607974	0.85[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641936	0.85[AFR][1000 genomes]
rs663530	0.88[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs687109	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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:20)

SNP	Gene	Cis/trans	Tissue	Source
rs640627	MRE11A	cis	Nerve Tibial	GTEx
rs640627	RP11-685N10.1	cis	Thyroid	GTEx
rs640627	RP11-685N10.1	cis	Artery Aorta	GTEx
rs640627	MRE11A	cis	Esophagus Muscularis	GTEx
rs640627	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs640627	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs640627	MRE11A	cis	Artery Tibial	GTEx
rs640627	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs640627	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs640627	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs640627	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs640627	RP11-685N10.1	cis	Artery Tibial	GTEx
rs640627	MRE11A	cis	Stomach	GTEx
rs640627	MRE11A	cis	Esophagus Mucosa	GTEx
rs640627	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs640627	MRE11A	cis	Adipose Subcutaneous	GTEx
rs640627	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs640627	MRE11A	cis	lung	GTEx
rs640627	MRE11A	cis	Thyroid	GTEx
rs640627	RP11-685N10.1	cis	lung	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	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
5	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
11	chr11:94166600-94216400	Weak transcription	Gastric	stomach
12	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
13	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
15	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
20	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
21	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:94180600-94202800	Weak transcription	Brain Anterior Caudate	brain
26	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:94180800-94198800	Weak transcription	Thymus	Thymus
28	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:94180800-94215800	Weak transcription	Lung	lung
30	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
31	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:94183000-94205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:94183200-94222200	Weak transcription	HMEC	breast
34	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:94183600-94225800	Weak transcription	NHLF	lung
36	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
37	chr11:94186600-94199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:94189600-94201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:94190600-94199000	Weak transcription	Ovary	ovary
40	chr11:94190600-94202400	Weak transcription	Fetal Lung	lung
41	chr11:94192800-94205400	Weak transcription	HUVEC	blood vessel
42	chr11:94193000-94197800	Weak transcription	K562	blood
43	chr11:94193400-94198000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:94193400-94199000	Weak transcription	Aorta	Aorta
45	chr11:94193400-94210800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:94193600-94197600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:94193600-94203600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:94193800-94200000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:94193800-94202000	Weak transcription	HepG2	liver
50	chr11:94193800-94214400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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