Variant report

Variant	rs10991725
Chromosome Location	chr9:93720858-93720859
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	chr9:93677484..93678606-chr9:93720589..93721191,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10761104	0.81[AMR][1000 genomes]
rs10820821	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10820822	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10991716	0.85[AMR][1000 genomes]
rs10991728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155522	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12341958	0.84[AMR][1000 genomes]
rs6479319	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7027577	0.85[AMR][1000 genomes]
rs7873505	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9696872	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10991725	CENPP	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93717800-93721000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:93718400-93723000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:93718600-93723200	Weak transcription	HMEC	breast
4	chr9:93718600-93723600	Weak transcription	Aorta	Aorta
5	chr9:93718800-93723800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:93718800-93726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:93718800-93727200	Weak transcription	NHEK	skin
8	chr9:93719200-93722600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:93719200-93723000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:93719200-93723000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:93719200-93723200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:93719400-93722800	Weak transcription	Osteobl	bone
13	chr9:93719600-93723200	Weak transcription	NHDF-Ad	bronchial
14	chr9:93720200-93721200	Enhancers	Esophagus	oesophagus
15	chr9:93720200-93721200	Enhancers	Placenta	Placenta
16	chr9:93720200-93721600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr9:93720400-93721200	Enhancers	Ovary	ovary
18	chr9:93720400-93721200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:93720400-93721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:93720600-93721200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr9:93720800-93721000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:93720800-93721000	Bivalent Enhancer	Lung	lung
23	chr9:93720800-93721000	Enhancers	Pancreas	Pancrea
24	chr9:93720800-93721000	Flanking Active TSS	Stomach Mucosa	stomach
25	chr9:93720800-93721200	Enhancers	Gastric	stomach
26	chr9:93720800-93721400	Enhancers	Duodenum Mucosa	Duodenum
27	chr9:93720800-93721400	Enhancers	Rectal Mucosa Donor 29	rectum

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