Variant report

Variant	rs2449047
Chromosome Location	chr3:98663275-98663276
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1036674	1.00[AMR][1000 genomes]
rs10935512	1.00[AMR][1000 genomes]
rs1095913	1.00[AMR][1000 genomes]
rs1095914	1.00[AMR][1000 genomes]
rs1351496	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1383908	1.00[AMR][1000 genomes]
rs1383911	1.00[AMR][1000 genomes]
rs1440157	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1531736	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1600788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1818053	0.80[YRI][hapmap]
rs1822019	1.00[AMR][1000 genomes]
rs1972432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2099738	1.00[AMR][1000 genomes]
rs2119189	1.00[AMR][1000 genomes]
rs2128053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173598	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2439227	1.00[AMR][1000 genomes]
rs2439230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2439232	0.93[YRI][hapmap]
rs2439233	1.00[AMR][1000 genomes]
rs2439234	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2439235	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2448985	1.00[AMR][1000 genomes]
rs2454672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454675	1.00[AMR][1000 genomes]
rs2454681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454683	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470828	1.00[AMR][1000 genomes]
rs2470839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470850	1.00[AMR][1000 genomes]
rs2470856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470868	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs278389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2922213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4273318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4857107	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5013928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6440232	1.00[AMR][1000 genomes]
rs7373983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626395	1.00[AMR][1000 genomes]
rs7630797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828607	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs866873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965757	1.00[AMR][1000 genomes]
rs974981	1.00[AMR][1000 genomes]
rs9883226	0.80[YRI][hapmap]
rs996199	0.80[YRI][hapmap]

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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98643000-98663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:98663200-98667200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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