Variant report

Variant	rs12330828
Chromosome Location	chr3:78883012-78883013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12330466	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13319888	1.00[AMR][1000 genomes]
rs1480688	0.82[YRI][hapmap]
rs162816	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs173004	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1843786	0.89[YRI][hapmap]
rs231606	1.00[AMR][1000 genomes]
rs333473	1.00[AMR][1000 genomes]
rs333482	1.00[AMR][1000 genomes]
rs333492	0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs333494	1.00[AMR][1000 genomes]
rs333496	1.00[AMR][1000 genomes]
rs333500	1.00[AMR][1000 genomes]
rs333504	1.00[AMR][1000 genomes]
rs333505	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs333509	1.00[AMR][1000 genomes]
rs365492	1.00[AMR][1000 genomes]
rs365924	1.00[AMR][1000 genomes]
rs375298	1.00[AMR][1000 genomes]
rs383189	1.00[AMR][1000 genomes]
rs390060	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408455	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs416640	1.00[AMR][1000 genomes]
rs72892483	1.00[AMR][1000 genomes]
rs72894478	0.95[AFR][1000 genomes]
rs72896415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7640421	0.94[YRI][hapmap]
rs9631524	1.00[AMR][1000 genomes]
rs9631525	1.00[AMR][1000 genomes]
rs9810277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9813851	1.00[AMR][1000 genomes]
rs9817612	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9822237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9840011	0.94[YRI][hapmap]
rs9841731	0.94[YRI][hapmap];1.00[AFR][1000 genomes]
rs9849099	1.00[AMR][1000 genomes]
rs9863633	0.90[AFR][1000 genomes]
rs9872311	1.00[AMR][1000 genomes]
rs9881587	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78873200-78888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:78875600-78884400	Weak transcription	NHDF-Ad	bronchial
3	chr3:78875600-78888800	Weak transcription	Fetal Lung	lung
4	chr3:78882000-78894800	Weak transcription	Fetal Intestine Small	intestine
5	chr3:78882600-78885200	Enhancers	HepG2	liver
6	chr3:78882800-78883200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:78882800-78883400	Enhancers	Brain Substantia Nigra	brain
8	chr3:78882800-78883600	Enhancers	Brain Hippocampus Middle	brain
9	chr3:78882800-78883800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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