Variant report

Variant	rs12490607
Chromosome Location	chr3:111021613-111021614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11715652	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493629	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13086151	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13323922	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471989	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2932051	0.94[ASN][1000 genomes]
rs2958068	0.94[ASN][1000 genomes]
rs2971350	0.94[ASN][1000 genomes]
rs4682243	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682248	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682254	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682255	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682256	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276307	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414249	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6437964	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6437965	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6437966	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6437969	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7371938	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7373383	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7427713	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7430044	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7431784	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7432243	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7433817	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615671	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7619144	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7629508	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7631076	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9816038	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9819170	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9826558	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9827344	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9828332	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9833532	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9836183	0.80[ASN][1000 genomes]
rs9854607	0.98[ASN][1000 genomes]
rs9860277	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9883993	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111017800-111023800	Enhancers	Dnd41	blood
2	chr3:111018600-111023000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:111018800-111021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:111019400-111022000	Weak transcription	Fetal Thymus	thymus
5	chr3:111019400-111029400	Weak transcription	Thymus	Thymus
6	chr3:111019800-111023600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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