Variant report

Variant	rs1333982
Chromosome Location	chr13:110638444-110638445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1333987	0.91[EUR][1000 genomes]
rs56296105	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58503998	0.86[EUR][1000 genomes]
rs72652006	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652007	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72652014	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72670114	0.90[EUR][1000 genomes]
rs72670117	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72670118	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72670125	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72670128	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72670134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72670135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72670137	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330996	0.90[EUR][1000 genomes]
rs7332564	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7999512	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8000641	0.90[EUR][1000 genomes]
rs915017	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs915018	0.98[EUR][1000 genomes]
rs9555650	0.85[EUR][1000 genomes]
rs9555651	0.85[EUR][1000 genomes]
rs9555653	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9555654	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9555658	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555659	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555660	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9559676	0.90[EUR][1000 genomes]
rs9559677	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9559679	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9559681	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9559688	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9559691	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9559693	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559694	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559695	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559696	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559697	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559698	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9559700	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9559701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9559705	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9559706	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9559707	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9588040	0.94[EUR][1000 genomes]

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	nsv832719	chr13:110512259-110655883	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1049593	chr13:110615494-110725945	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:110636800-110641600	Weak transcription	HMEC	breast
2	chr13:110638000-110638600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:110638000-110639000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:110638200-110638600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:110638200-110638600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:110638200-110638800	Enhancers	NHLF	lung
7	chr13:110638400-110638600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:110638400-110639600	Enhancers	A549	lung
9	chr13:110638400-110650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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