Variant report

Variant	rs12305992
Chromosome Location	chr12:47080154-47080155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11183535	1.00[AMR][1000 genomes]
rs11183558	1.00[AMR][1000 genomes]
rs11504525	1.00[AMR][1000 genomes]
rs11504526	1.00[AMR][1000 genomes]
rs12297833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298909	1.00[AMR][1000 genomes]
rs12304575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304806	1.00[AMR][1000 genomes]
rs12304865	1.00[AMR][1000 genomes]
rs12305342	1.00[AMR][1000 genomes]
rs12307390	1.00[AMR][1000 genomes]
rs12315001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316510	1.00[AMR][1000 genomes]
rs12317112	1.00[AMR][1000 genomes]
rs12318411	1.00[AMR][1000 genomes]
rs12319423	1.00[AMR][1000 genomes]
rs12320033	1.00[AMR][1000 genomes]
rs60258688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293979	1.00[AFR][1000 genomes];1.00[AMR][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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47071000-47080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:47074600-47083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47074800-47091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47077800-47091200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:47079600-47080800	Enhancers	Fetal Muscle Leg	muscle

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