Variant report

Variant	rs11050046
Chromosome Location	chr12:29269458-29269459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10843330	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843331	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843332	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843333	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843334	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843336	0.82[EUR][1000 genomes]
rs10843338	0.80[EUR][1000 genomes]
rs11050035	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050039	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050040	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050076	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050077	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050078	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050095	0.80[EUR][1000 genomes]
rs11050096	0.80[EUR][1000 genomes]
rs11050103	0.80[EUR][1000 genomes]
rs12049941	0.85[EUR][1000 genomes]
rs12228075	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306316	0.88[EUR][1000 genomes]
rs1390536	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1390537	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1587186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34844277	0.91[EUR][1000 genomes]
rs73071989	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972977	chr12:29259810-29276403	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29266400-29286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:29269200-29269600	Weak transcription	Fetal Kidney	kidney

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