Variant report

Variant	rs10880987
Chromosome Location	chr12:47091841-47091842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47082960..47085683-chr12:47089462..47091962,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11183560	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11183562	0.94[ASN][1000 genomes]
rs11183571	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11183575	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183576	0.86[ASN][1000 genomes]
rs11615015	0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12227156	0.84[AFR][1000 genomes]
rs12229299	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12818130	0.89[AFR][1000 genomes]
rs180409	0.87[CHB][hapmap]
rs180412	0.81[CHB][hapmap]
rs180427	0.82[CHB][hapmap]
rs2193652	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35813765	0.80[ASN][1000 genomes]
rs35827448	0.80[ASN][1000 genomes]
rs4140782	0.81[ASN][1000 genomes]
rs4768130	0.90[ASN][1000 genomes]
rs4768735	0.81[JPT][hapmap]
rs7304808	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975718	0.88[AFR][1000 genomes]
rs9795544	0.81[AFR][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47085600-47095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:47087000-47094400	Weak transcription	Pancreas	Pancrea
3	chr12:47091200-47092000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47091200-47092600	ZNF genes & repeats	Aorta	Aorta

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