Variant report

Variant	rs12273568
Chromosome Location	chr11:56673111-56673112
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11228815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11228816	1.00[AMR][1000 genomes]
rs11228820	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11228822	1.00[AMR][1000 genomes]
rs11228843	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11228844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11228845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11228848	0.89[AFR][1000 genomes]
rs11228849	0.89[AFR][1000 genomes]
rs11228901	1.00[AMR][1000 genomes]
rs11501558	0.85[AFR][1000 genomes]
rs12273672	0.89[AFR][1000 genomes]
rs12275463	0.89[AFR][1000 genomes]
rs12285600	1.00[AMR][1000 genomes]
rs12288998	0.89[AFR][1000 genomes]
rs12290813	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291606	0.89[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	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1045889	chr11:56624365-56737435	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv520375	chr11:56669830-56704042	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56671600-56674000	Weak transcription	Stomach Mucosa	stomach
2	chr11:56672200-56673800	ZNF genes & repeats	A549	lung
3	chr11:56672400-56673200	Enhancers	NHEK	skin
4	chr11:56672400-56673800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:56672400-56673800	Enhancers	HMEC	breast
6	chr11:56672400-56674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:56672400-56675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:56673000-56674600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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