Variant report

Variant	rs1475274
Chromosome Location	chr10:91698909-91698910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10736051	0.90[ASN][1000 genomes]
rs10748530	0.86[ASN][1000 genomes]
rs10748531	0.86[ASN][1000 genomes]
rs10785922	0.90[ASN][1000 genomes]
rs10881712	0.93[ASN][1000 genomes]
rs11594283	0.90[ASN][1000 genomes]
rs12258006	0.91[ASN][1000 genomes]
rs1274130	0.90[ASN][1000 genomes]
rs1274133	0.98[ASN][1000 genomes]
rs1274134	0.98[ASN][1000 genomes]
rs1324698	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1343367	0.95[ASN][1000 genomes]
rs1419112	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17129438	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17129462	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17129585	0.80[AFR][1000 genomes]
rs17411458	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17412226	0.88[AFR][1000 genomes]
rs17503531	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1936216	0.91[ASN][1000 genomes]
rs1936218	0.94[AFR][1000 genomes]
rs1936219	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1936220	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1936221	0.87[ASN][1000 genomes]
rs1954411	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2798612	0.91[ASN][1000 genomes]
rs28658287	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28719637	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145043	0.90[ASN][1000 genomes]
rs56887221	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57308670	0.90[AFR][1000 genomes]
rs59451110	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60970872	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6583666	0.80[ASN][1000 genomes]
rs7070420	0.95[ASN][1000 genomes]
rs7089587	0.90[ASN][1000 genomes]
rs73377303	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7912852	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1475274	RBP4	cis	cerebellum	SCAN
rs1475274	PDE6C	cis	parietal	SCAN
rs1475274	RNLS	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91684600-91699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:91697200-91700400	Enhancers	NHEK	skin
3	chr10:91697600-91699800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:91698200-91702000	Weak transcription	Primary B cells from cord blood	blood
5	chr10:91698400-91702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:91698600-91701000	Enhancers	HMEC	breast
7	chr10:91698800-91699800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:91698800-91699800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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