Variant report

Variant	rs71324184
Chromosome Location	chr22:31752061-31752062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1001599	0.83[EUR][1000 genomes]
rs1034588	0.80[EUR][1000 genomes]
rs12152166	0.87[EUR][1000 genomes]
rs13054220	0.89[EUR][1000 genomes]
rs131205	0.85[EUR][1000 genomes]
rs131220	0.88[ASN][1000 genomes]
rs1858821	0.83[EUR][1000 genomes]
rs2040533	0.84[EUR][1000 genomes]
rs2073857	0.84[EUR][1000 genomes]
rs2078803	0.83[EUR][1000 genomes]
rs2106294	0.84[EUR][1000 genomes]
rs2228619	0.84[EUR][1000 genomes]
rs2283879	0.83[EUR][1000 genomes]
rs2283881	0.83[EUR][1000 genomes]
rs2413046	0.84[EUR][1000 genomes]
rs2413047	0.84[EUR][1000 genomes]
rs2413049	0.84[EUR][1000 genomes]
rs2899164	0.81[EUR][1000 genomes]
rs4141404	0.83[EUR][1000 genomes]
rs4603880	0.93[EUR][1000 genomes]
rs4820043	0.84[EUR][1000 genomes]
rs4820962	0.84[EUR][1000 genomes]
rs4820963	0.85[EUR][1000 genomes]
rs5749265	0.80[EUR][1000 genomes]
rs5753521	0.83[EUR][1000 genomes]
rs5753543	0.85[EUR][1000 genomes]
rs5753596	0.82[AMR][1000 genomes]
rs5753597	0.80[EUR][1000 genomes]
rs5753601	0.80[EUR][1000 genomes]
rs5753609	0.83[EUR][1000 genomes]
rs5997933	0.82[EUR][1000 genomes]
rs5997939	0.83[EUR][1000 genomes]
rs5997949	0.85[EUR][1000 genomes]
rs714909	0.93[EUR][1000 genomes]
rs715510	0.87[EUR][1000 genomes]
rs7287267	0.93[EUR][1000 genomes]
rs737684	0.84[EUR][1000 genomes]
rs737887	0.85[EUR][1000 genomes]
rs737888	0.80[EUR][1000 genomes]
rs8135344	0.84[EUR][1000 genomes]
rs8138596	0.85[EUR][1000 genomes]
rs8141150	0.80[EUR][1000 genomes]
rs9606830	0.92[EUR][1000 genomes]
rs9606831	0.93[EUR][1000 genomes]
rs9609254	0.91[EUR][1000 genomes]
rs9609257	0.90[EUR][1000 genomes]
rs9609263	0.94[ASN][1000 genomes]
rs9609264	0.92[EUR][1000 genomes]
rs9609265	0.93[EUR][1000 genomes]
rs9609266	0.92[EUR][1000 genomes]
rs9609267	0.91[EUR][1000 genomes]
rs9609268	0.90[EUR][1000 genomes]
rs9609277	0.80[EUR][1000 genomes]
rs9621235	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs71324184	SFI1	cis	Thyroid	GTEx
rs71324184	SFI1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31762200	Weak transcription	Right Atrium	heart

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