Variant report

Variant	rs2930448
Chromosome Location	chr3:100912386-100912387
allele	A/T
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:44)

rs_ID	r²[population]
rs12485950	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168361	0.86[ASN][1000 genomes]
rs187001	0.96[ASN][1000 genomes]
rs187002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187351	0.86[ASN][1000 genomes]
rs1994202	0.86[ASN][1000 genomes]
rs2460722	0.98[EUR][1000 genomes]
rs2460723	0.98[EUR][1000 genomes]
rs2627548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627550	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660801	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660802	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660804	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs348859	0.98[EUR][1000 genomes]
rs348862	0.86[ASN][1000 genomes]
rs348863	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348867	0.97[EUR][1000 genomes]
rs348868	0.97[EUR][1000 genomes]
rs348877	0.97[EUR][1000 genomes]
rs348878	0.97[EUR][1000 genomes]
rs348882	0.97[EUR][1000 genomes]
rs348883	0.97[EUR][1000 genomes]
rs4270483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440103	0.86[ASN][1000 genomes]
rs4683872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486814	0.98[EUR][1000 genomes]
rs488679	0.97[EUR][1000 genomes]
rs494593	0.95[EUR][1000 genomes]
rs511575	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs512553	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs518813	0.97[EUR][1000 genomes]
rs521661	0.97[EUR][1000 genomes]
rs537271	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs538280	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs543560	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441594	0.97[EUR][1000 genomes]
rs7613046	0.97[EUR][1000 genomes]
rs7634351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906381	0.86[ASN][1000 genomes]
rs906382	0.86[ASN][1000 genomes]
rs9825713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9877262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2754039	chr3:100882310-100981310	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100903000-100912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:100904600-100914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:100907400-100912400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:100909600-100912600	Weak transcription	NHLF	lung
5	chr3:100910800-100913400	Enhancers	Osteobl	bone
6	chr3:100911000-100912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:100911600-100912400	Weak transcription	NHDF-Ad	bronchial
8	chr3:100911800-100913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:100911800-100913400	Enhancers	NHEK	skin
10	chr3:100912000-100912400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:100912000-100913800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:100912200-100912600	Weak transcription	A549	lung

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