Variant report

Variant	rs4462090
Chromosome Location	chr1:70137611-70137612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489554	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11209514	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11209516	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11209517	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11209518	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12022970	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12025135	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12025862	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12035984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12118129	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12121402	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12128962	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12133092	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12729671	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1418006	0.87[ASN][1000 genomes]
rs17325181	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1740892	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34170212	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650304	0.96[ASN][1000 genomes]
rs4650306	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58546454	0.84[ASN][1000 genomes]
rs61782215	0.81[ASN][1000 genomes]
rs61782255	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680513	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673029	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528414	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7537453	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70136600-70139200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:70136800-70137800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:70136800-70138600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:70137000-70137800	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:70137200-70167400	Weak transcription	Fetal Brain Male	brain
6	chr1:70137400-70137800	Enhancers	Brain Hippocampus Middle	brain
7	chr1:70137400-70138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:70137400-70138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:70137400-70160400	Weak transcription	Fetal Brain Female	brain
10	chr1:70137600-70138400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:70137600-70138600	Enhancers	Brain Anterior Caudate	brain

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