Variant report

Variant	rs2055406
Chromosome Location	chr15:53668186-53668187
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	chr15:53663627..53666576-chr15:53666710..53668848,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10083669	0.97[EUR][1000 genomes]
rs1038552	0.81[EUR][1000 genomes]
rs1038553	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11630701	0.97[EUR][1000 genomes]
rs11635444	0.97[EUR][1000 genomes]
rs11635520	0.97[EUR][1000 genomes]
rs11635540	0.97[EUR][1000 genomes]
rs12148424	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12148432	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12439644	0.96[EUR][1000 genomes]
rs1356242	0.97[EUR][1000 genomes]
rs1356243	0.97[EUR][1000 genomes]
rs1400212	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1400213	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1400214	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1400215	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1501067	0.95[EUR][1000 genomes]
rs1501068	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1516407	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1516408	0.97[EUR][1000 genomes]
rs1516409	0.97[EUR][1000 genomes]
rs1516410	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1516414	0.92[EUR][1000 genomes]
rs2055404	0.97[EUR][1000 genomes]
rs2055405	0.97[EUR][1000 genomes]
rs2414233	0.95[EUR][1000 genomes]
rs4776139	0.97[EUR][1000 genomes]
rs4776140	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592248	0.91[EUR][1000 genomes]
rs6493622	0.95[EUR][1000 genomes]
rs7168732	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7169090	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169159	0.95[EUR][1000 genomes]
rs7169275	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036605	0.97[EUR][1000 genomes]
rs8037058	0.97[EUR][1000 genomes]
rs8037474	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs972893	0.97[EUR][1000 genomes]
rs974730	0.97[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	nsv1037630	chr15:53324645-53708925	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833008	chr15:53630471-53780618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2055406	SPPL2A	cis	cerebellum	SCAN
rs2055406	SERTAD4	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53666400-53671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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