Variant report

Variant	rs1293144
Chromosome Location	chr20:52917208-52917209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52916826..52918729-chr3:64490949..64493940,2	MCF-7	breast:
2	chr1:149223470..149225076-chr20:52916629..52918756,2	MCF-7	breast:
3	chr20:52887540..52889848-chr20:52915513..52918256,2	MCF-7	breast:
4	chr20:52901774..52903726-chr20:52915299..52918140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1293132	0.92[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1293137	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1293142	0.83[EUR][1000 genomes]
rs1293143	0.87[GIH][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1298513	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1382010	0.82[EUR][1000 genomes]
rs1542522	0.80[EUR][1000 genomes]
rs1542523	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2153964	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2153965	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185849	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2616330	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2616335	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870320	0.80[EUR][1000 genomes]
rs292123	0.89[CEU][hapmap];0.88[MEX][hapmap]
rs292125	0.89[CEU][hapmap]
rs292126	0.89[CEU][hapmap];0.88[MEX][hapmap]
rs292132	0.80[AMR][1000 genomes]
rs292139	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs292141	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs292143	0.82[EUR][1000 genomes]
rs292144	0.83[EUR][1000 genomes]
rs292146	0.82[EUR][1000 genomes]
rs6013944	0.85[CEU][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs6013960	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6023082	0.80[EUR][1000 genomes]
rs6091849	0.82[EUR][1000 genomes]
rs6097895	0.83[EUR][1000 genomes]
rs6097896	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv962638	chr20:52883415-52917517	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1293144	AURKA	cis	cerebellum	SCAN
rs1293144	C20orf107	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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