Variant report

Variant	rs12473390
Chromosome Location	chr2:211641193-211641194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10208743	0.89[ASN][1000 genomes]
rs10932357	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10932358	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12464089	0.87[EUR][1000 genomes]
rs12471767	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622504	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622994	0.90[EUR][1000 genomes]
rs16824974	0.90[EUR][1000 genomes]
rs16844788	0.86[CEU][hapmap]
rs16844800	0.87[EUR][1000 genomes]
rs16844851	0.90[EUR][1000 genomes]
rs1861897	0.90[EUR][1000 genomes]
rs2160848	0.82[ASN][1000 genomes]
rs2287414	0.90[EUR][1000 genomes]
rs2287415	0.90[EUR][1000 genomes]
rs2371073	0.89[ASN][1000 genomes]
rs2371074	0.89[ASN][1000 genomes]
rs2887930	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4381725	0.89[EUR][1000 genomes]
rs4560046	0.80[ASN][1000 genomes]
rs4584964	0.88[EUR][1000 genomes]
rs4672588	0.87[EUR][1000 genomes]
rs4673547	0.89[EUR][1000 genomes]
rs4673549	0.89[EUR][1000 genomes]
rs57395348	0.90[EUR][1000 genomes]
rs58393285	0.89[EUR][1000 genomes]
rs6735614	0.90[EUR][1000 genomes]
rs6736693	0.89[ASN][1000 genomes]
rs67466802	0.89[ASN][1000 genomes]
rs67557307	0.86[ASN][1000 genomes]
rs73078181	0.87[ASN][1000 genomes]
rs7425715	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv821631	chr2:211528918-211658981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv522114	chr2:211619571-211765062	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1008054	chr2:211633148-211744687	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1013898	chr2:211634275-211744687	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1012660	chr2:211634902-211744687	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211641000-211641200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links