Variant report

Variant	rs73123375
Chromosome Location	chr12:58063664-58063665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58062107..58064323-chr12:58086416..58089211,2	K562	blood:

Variant related genes	Relation type
ENSG00000135506	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10783836	0.80[ASN][1000 genomes]
rs11533604	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11536137	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12314562	0.81[ASN][1000 genomes]
rs12316021	0.83[ASN][1000 genomes]
rs12809742	0.82[ASN][1000 genomes]
rs1585781	0.82[ASN][1000 genomes]
rs1678511	0.83[ASN][1000 genomes]
rs1678512	0.81[ASN][1000 genomes]
rs1678513	0.82[ASN][1000 genomes]
rs1678528	0.80[ASN][1000 genomes]
rs1678530	0.83[ASN][1000 genomes]
rs1678531	0.83[ASN][1000 genomes]
rs1678532	0.83[ASN][1000 genomes]
rs1678539	0.84[ASN][1000 genomes]
rs1689585	0.80[ASN][1000 genomes]
rs1689592	0.82[ASN][1000 genomes]
rs1689594	0.82[ASN][1000 genomes]
rs1689595	0.82[ASN][1000 genomes]
rs2306390	0.82[EUR][1000 genomes]
rs2619466	0.83[ASN][1000 genomes]
rs2640630	0.83[ASN][1000 genomes]
rs2640631	0.83[ASN][1000 genomes]
rs2928053	0.84[ASN][1000 genomes]
rs2928054	0.81[ASN][1000 genomes]
rs2928055	0.81[ASN][1000 genomes]
rs4760165	0.85[ASN][1000 genomes]
rs59789656	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs701008	0.80[ASN][1000 genomes]
rs7136269	0.83[ASN][1000 genomes]
rs774891	0.85[ASN][1000 genomes]
rs799575	0.83[ASN][1000 genomes]
rs810204	0.85[ASN][1000 genomes]

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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv559044	chr12:58028671-58065448	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	nsv975499	chr12:58034418-58068937	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73123375	METTL21B	cis	Esophagus Mucosa	GTEx
rs73123375	METTL21B	cis	Adipose Subcutaneous	GTEx
rs73123375	METTL21B	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58063600-58063800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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