Variant report

Variant	rs808282
Chromosome Location	chr10:116550525-116550526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10885606	0.85[ASN][1000 genomes]
rs10885610	0.97[ASN][1000 genomes]
rs11196903	0.82[ASN][1000 genomes]
rs11196904	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11196917	0.97[ASN][1000 genomes]
rs12098336	0.87[ASN][1000 genomes]
rs12220314	0.85[ASN][1000 genomes]
rs1746028	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420064	0.86[ASN][1000 genomes]
rs34253301	0.86[ASN][1000 genomes]
rs34621187	0.85[ASN][1000 genomes]
rs36007276	0.87[ASN][1000 genomes]
rs703349	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7073831	0.85[ASN][1000 genomes]
rs7077074	0.85[ASN][1000 genomes]
rs7080397	0.82[ASN][1000 genomes]
rs7082487	0.84[ASN][1000 genomes]
rs7089072	0.87[ASN][1000 genomes]
rs7095432	0.85[ASN][1000 genomes]
rs7098990	0.87[ASN][1000 genomes]
rs7899479	0.99[ASN][1000 genomes]
rs7907889	0.84[ASN][1000 genomes]
rs7908984	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7912645	0.82[CHB][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs808279	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs808281	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808283	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs808291	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808294	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808295	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808296	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808298	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808299	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs808301	0.81[EUR][1000 genomes]
rs808322	0.80[EUR][1000 genomes]
rs808344	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808346	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv1814163	chr10:116519705-116582581	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv516803	chr10:116528294-116556846	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs808282	PNLIP	cis	parietal	SCAN
rs808282	AFAP1L2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116540600-116553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:116540800-116553200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:116549000-116556000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:116549200-116554800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:116549400-116553200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr10:116549400-116553400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:116550200-116550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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