Variant report

Variant	rs74088334
Chromosome Location	chr12:39683010-39683011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1913189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55756650	1.00[AMR][1000 genomes]
rs56114183	1.00[AMR][1000 genomes]
rs56224231	1.00[AMR][1000 genomes]
rs57847806	1.00[AMR][1000 genomes]
rs58046207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58297221	1.00[AMR][1000 genomes]
rs74086512	1.00[AMR][1000 genomes]
rs74086516	1.00[AMR][1000 genomes]
rs74086528	1.00[AMR][1000 genomes]
rs74086539	1.00[AMR][1000 genomes]
rs74086540	1.00[AMR][1000 genomes]
rs74086548	1.00[AMR][1000 genomes]
rs74086549	1.00[AMR][1000 genomes]
rs74086569	1.00[AMR][1000 genomes]
rs74088332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088350	1.00[AMR][1000 genomes]
rs74088351	1.00[AMR][1000 genomes]
rs74088356	1.00[AMR][1000 genomes]
rs74088360	1.00[AMR][1000 genomes]
rs74088362	1.00[AMR][1000 genomes]
rs74088365	1.00[AMR][1000 genomes]
rs74088368	1.00[AMR][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	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr12:39674800-39690200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:39681600-39687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
4	chr12:39682400-39688800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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