Variant report

Variant	rs7969351
Chromosome Location	chr12:104665387-104665388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10735392	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10735393	0.95[EUR][1000 genomes]
rs10735395	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10745995	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10745996	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861204	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11111943	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11111983	0.80[AMR][1000 genomes]
rs12426783	0.83[EUR][1000 genomes]
rs4129598	0.81[AMR][1000 genomes]
rs4246264	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4246269	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4246270	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4246271	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4388968	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4447242	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4502051	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4545635	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4614534	0.81[AMR][1000 genomes]
rs4630362	0.88[EUR][1000 genomes]
rs4964257	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4964260	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4964288	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964741	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964752	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964761	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964779	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964784	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6419386	0.91[AMR][1000 genomes]
rs6539128	0.81[AMR][1000 genomes]
rs6539137	0.88[EUR][1000 genomes]
rs7132418	0.82[AMR][1000 genomes]
rs7138035	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138317	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7139336	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7294997	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295413	0.83[AMR][1000 genomes]
rs7298613	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7303483	0.83[AMR][1000 genomes]
rs7305872	0.84[AMR][1000 genomes]
rs73181916	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73181919	0.84[EUR][1000 genomes]
rs73181926	0.84[EUR][1000 genomes]
rs7962423	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7969380	0.87[ASN][1000 genomes]
rs7969604	0.88[EUR][1000 genomes]
rs7972034	0.80[AMR][1000 genomes]
rs7975161	0.82[ASN][1000 genomes]
rs7978101	0.84[AMR][1000 genomes]
rs9738614	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9739826	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9739833	0.94[AMR][1000 genomes];0.93[EUR][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104658200-104665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104658200-104670000	Weak transcription	NHLF	lung
5	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:104663600-104670000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:104664600-104665600	Weak transcription	A549	lung
10	chr12:104664600-104673200	Weak transcription	HSMM	muscle

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