Variant report

Variant	rs10766527
Chromosome Location	chr11:19100736-19100737
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	chr11:19098962..19100947-chr11:19123727..19125243,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10741758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10833062	0.84[MEX][hapmap]
rs11024979	1.00[EUR][1000 genomes]
rs11024980	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024981	1.00[EUR][1000 genomes]
rs11024984	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11025001	0.81[CHD][hapmap]
rs11025018	0.85[MEX][hapmap]
rs12223197	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16936098	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2221350	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4756989	0.83[CHD][hapmap];0.85[MEX][hapmap]
rs4757753	0.82[CHD][hapmap]
rs60483181	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61380789	1.00[EUR][1000 genomes]
rs7125292	0.82[ASN][1000 genomes]
rs868337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs962317	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9633838	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv897030	chr11:19049478-19106045	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10766527	NAV2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19095200-19101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:19095200-19101000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:19095200-19104000	Weak transcription	Esophagus	oesophagus
4	chr11:19096200-19101000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:19096200-19102200	Weak transcription	Pancreas	Pancrea
6	chr11:19097000-19100800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:19097000-19102400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:19098200-19103600	Enhancers	HUVEC	blood vessel
9	chr11:19098800-19102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:19099000-19102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:19099000-19102800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:19099200-19100800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:19099200-19100800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:19099200-19101000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:19099200-19101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:19099200-19102000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:19099400-19100800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:19099400-19101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:19099400-19102800	Enhancers	NHDF-Ad	bronchial
20	chr11:19099600-19100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:19099600-19100800	Weak transcription	HSMM	muscle
22	chr11:19099800-19100800	Weak transcription	NH-A	brain
23	chr11:19100000-19100800	Weak transcription	HSMMtube	muscle
24	chr11:19100000-19101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:19100400-19102600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:19100600-19101400	Enhancers	Colon Smooth Muscle	Colon
27	chr11:19100600-19102000	Weak transcription	Fetal Heart	heart
28	chr11:19100600-19102800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:19100600-19102800	Enhancers	Osteobl	bone
30	chr11:19100600-19103000	Enhancers	NHEK	skin

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