Variant report

Variant	rs58143719
Chromosome Location	chr2:46699639-46699640
allele	C/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:57)

rs_ID	r²[population]
rs1868079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868081	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1868082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2016909	0.85[ASN][1000 genomes]
rs2346179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2881397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4441528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55680262	1.00[AFR][1000 genomes]
rs55768552	0.83[AFR][1000 genomes]
rs55770522	1.00[AFR][1000 genomes]
rs55775849	0.83[AFR][1000 genomes]
rs55846419	0.83[AFR][1000 genomes]
rs55857444	1.00[AFR][1000 genomes]
rs55858852	0.83[AFR][1000 genomes]
rs55860288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55909007	0.83[AFR][1000 genomes]
rs55936500	0.83[AFR][1000 genomes]
rs55939277	0.83[AFR][1000 genomes]
rs56194963	1.00[AFR][1000 genomes]
rs56352638	0.83[AFR][1000 genomes]
rs57134112	0.83[AFR][1000 genomes]
rs57134197	1.00[AFR][1000 genomes]
rs57326818	0.83[AFR][1000 genomes]
rs57453502	1.00[AFR][1000 genomes]
rs57596928	0.83[AFR][1000 genomes]
rs57823622	0.83[AFR][1000 genomes]
rs58202206	0.83[AFR][1000 genomes]
rs58267234	0.83[AFR][1000 genomes]
rs58395052	1.00[AFR][1000 genomes]
rs58639867	0.83[AFR][1000 genomes]
rs60086470	1.00[AFR][1000 genomes]
rs60100807	1.00[AFR][1000 genomes]
rs60337602	0.83[AFR][1000 genomes]
rs60358116	0.83[AFR][1000 genomes]
rs61219366	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61226094	0.85[ASN][1000 genomes]
rs61599272	0.83[AFR][1000 genomes]
rs61678061	0.85[AMR][1000 genomes]
rs6741821	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756900	0.83[AFR][1000 genomes]
rs73926284	0.83[AFR][1000 genomes]
rs73926287	0.83[AFR][1000 genomes]
rs73926290	0.83[AFR][1000 genomes]
rs73926291	0.83[AFR][1000 genomes]
rs73926293	0.83[AFR][1000 genomes]
rs73927846	0.83[AFR][1000 genomes]
rs73927849	0.83[AFR][1000 genomes]
rs73927872	0.83[AFR][1000 genomes]
rs73929724	0.83[AFR][1000 genomes]
rs73929725	0.83[AFR][1000 genomes]
rs73929728	0.83[AFR][1000 genomes]
rs73929729	0.83[AFR][1000 genomes]
rs73929730	0.83[AFR][1000 genomes]
rs73929731	1.00[AFR][1000 genomes]
rs73929737	0.83[AFR][1000 genomes]
rs873531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs873532	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:46689200-46704800	Weak transcription	Placenta	Placenta
3	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
4	chr2:46692000-46702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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