Variant report

Variant	rs12125058
Chromosome Location	chr1:221277508-221277509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10746407	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10779426	0.83[EUR][1000 genomes]
rs10863579	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863583	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863590	0.81[EUR][1000 genomes]
rs11118639	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118640	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118642	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11118643	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118647	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118649	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118651	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11581606	0.83[EUR][1000 genomes]
rs12026738	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12079507	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12726290	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348275	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1417922	0.81[EUR][1000 genomes]
rs1442459	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1442460	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1442464	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539138	0.81[EUR][1000 genomes]
rs17575156	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2226092	0.83[EUR][1000 genomes]
rs2378436	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4484929	0.83[EUR][1000 genomes]
rs4642889	0.81[ASN][1000 genomes]
rs6541174	0.84[EUR][1000 genomes]
rs6657966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6686093	0.92[CEU][hapmap];0.88[TSI][hapmap]
rs6688813	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6693820	0.84[EUR][1000 genomes]
rs7543241	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9662259	0.87[EUR][1000 genomes];0.95[ASN][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12125058	RRP15	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221273200-221278600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:221275600-221280600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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