Variant report

Variant	rs16896996
Chromosome Location	chr8:99451867-99451868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99444054..99446996-chr8:99450505..99452269,2	MCF-7	breast:
2	chr8:99451152..99453654-chr8:99459310..99462023,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10098835	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100346	0.83[CEU][hapmap]
rs10100546	0.83[JPT][hapmap]
rs10441501	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.89[MKK][hapmap];0.88[ASN][1000 genomes]
rs10955174	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955175	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955176	0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs10955177	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs10955178	0.84[CEU][hapmap]
rs10955179	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11985382	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11994001	0.84[ASN][1000 genomes]
rs12056323	0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs12546344	0.82[AMR][1000 genomes]
rs13270534	0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1893884	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.84[MKK][hapmap];0.83[ASN][1000 genomes]
rs2001728	0.80[ASN][1000 genomes]
rs4130753	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.89[MKK][hapmap];0.88[ASN][1000 genomes]
rs4388428	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.89[MKK][hapmap];0.88[ASN][1000 genomes]
rs4407850	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734406	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4735564	0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4995528	0.88[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.89[MKK][hapmap]
rs62532757	0.83[ASN][1000 genomes]
rs6985600	0.82[ASN][1000 genomes]
rs7007360	0.88[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.89[MKK][hapmap]
rs7011763	0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7815227	0.88[CEU][hapmap]
rs9642951	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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034492	chr8:99436341-99456516	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16896996	OSR2	cis	cerebellum	SCAN
rs16896996	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99441400-99458000	Weak transcription	Ovary	ovary
2	chr8:99441400-99472600	Weak transcription	Pancreas	Pancrea
3	chr8:99449600-99453200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:99450400-99453000	Enhancers	Fetal Heart	heart
5	chr8:99450800-99452400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:99451000-99452000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:99451400-99452200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:99451400-99452400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:99451600-99452200	Enhancers	NHEK	skin
10	chr8:99451600-99452400	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:99451600-99453200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:99451800-99452200	Enhancers	Brain Anterior Caudate	brain
13	chr8:99451800-99452400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:99451800-99452400	Enhancers	Fetal Brain Male	brain
15	chr8:99451800-99452800	Enhancers	Cortex derived primary cultured neurospheres	brain

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