Variant report

Variant	rs11145032
Chromosome Location	chr9:79348193-79348194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79347384..79348921-chr9:79351965..79353979,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10781375	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10781376	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10869808	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10869810	0.98[ASN][1000 genomes]
rs10869811	0.99[ASN][1000 genomes]
rs10869812	0.99[ASN][1000 genomes]
rs11145017	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs11145018	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs11145019	0.91[JPT][hapmap]
rs11145021	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs11145033	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11145035	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11145036	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11145038	0.99[ASN][1000 genomes]
rs12238013	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs12345014	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12349206	0.97[ASN][1000 genomes]
rs1536820	0.82[MEX][hapmap]
rs1571446	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2077181	0.86[JPT][hapmap]
rs2277155	0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs3739521	0.81[MEX][hapmap]
rs3739524	0.86[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs56878970	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58570686	0.82[ASN][1000 genomes]
rs60820134	0.97[ASN][1000 genomes]
rs626837	0.81[CHB][hapmap]
rs641088	0.81[JPT][hapmap]
rs7848492	0.97[ASN][1000 genomes]
rs7864794	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9314853	0.83[AMR][1000 genomes]
rs9785303	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893481	chr9:79304043-79348193	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11145032	PRUNE2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79333200-79359000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:79333200-79370000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:79340400-79349400	Weak transcription	HSMM	muscle
4	chr9:79341400-79352000	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:79341400-79360800	Weak transcription	Aorta	Aorta
6	chr9:79346800-79348200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:79347000-79348200	Enhancers	Osteobl	bone
8	chr9:79347200-79348200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:79347200-79348400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:79347200-79348400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:79347400-79348400	Enhancers	Colon Smooth Muscle	Colon
12	chr9:79347600-79348200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:79347600-79349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:79347600-79350600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:79347800-79348200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:79347800-79348400	Enhancers	HSMMtube	muscle
17	chr9:79347800-79348600	Enhancers	Stomach Smooth Muscle	stomach

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