Variant report

Variant	rs4853246
Chromosome Location	chr2:76671601-76671602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10196661	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11688462	0.98[ASN][1000 genomes]
rs12463620	0.94[ASN][1000 genomes]
rs12464763	0.95[ASN][1000 genomes]
rs12475718	0.81[ASN][1000 genomes]
rs12476072	0.97[ASN][1000 genomes]
rs12477015	0.81[ASN][1000 genomes]
rs12477049	0.81[ASN][1000 genomes]
rs12477122	0.81[ASN][1000 genomes]
rs12613882	0.96[ASN][1000 genomes]
rs12615724	0.81[ASN][1000 genomes]
rs12618802	0.94[ASN][1000 genomes]
rs12621334	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12624158	0.93[ASN][1000 genomes]
rs12991135	0.81[ASN][1000 genomes]
rs13020282	0.81[ASN][1000 genomes]
rs13020905	0.81[ASN][1000 genomes]
rs17012789	0.95[ASN][1000 genomes]
rs17516461	0.83[ASN][1000 genomes]
rs1921241	0.98[ASN][1000 genomes]
rs1921242	0.95[ASN][1000 genomes]
rs1921249	0.99[ASN][1000 genomes]
rs1921251	0.80[ASN][1000 genomes]
rs1997450	0.94[ASN][1000 genomes]
rs2178518	0.93[ASN][1000 genomes]
rs28824528	0.82[ASN][1000 genomes]
rs28884919	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34486900	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35620139	0.82[ASN][1000 genomes]
rs35674985	0.81[ASN][1000 genomes]
rs3923527	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4264582	0.89[ASN][1000 genomes]
rs4853245	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853247	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60185714	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61331198	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809051	0.83[ASN][1000 genomes]
rs7422743	0.96[ASN][1000 genomes]
rs7559351	0.83[ASN][1000 genomes]
rs7563300	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006097	chr2:76524248-76675427	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757809	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759064	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013614	chr2:76624220-76715121	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582227	chr2:76662404-76712789	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76659200-76677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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