Variant report

Variant	rs1551179
Chromosome Location	chr1:166163441-166163442
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166162627..166165550-chr1:166172239..166174984,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10494452	1.00[YRI][hapmap]
rs10494453	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs10494455	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10800198	1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs10800199	0.96[EUR][1000 genomes]
rs10800200	0.95[EUR][1000 genomes]
rs10918369	0.87[TSI][hapmap]
rs10918381	0.95[EUR][1000 genomes]
rs10918383	0.96[EUR][1000 genomes]
rs10918384	0.96[EUR][1000 genomes]
rs10918385	0.90[EUR][1000 genomes]
rs12023523	0.96[EUR][1000 genomes]
rs12031538	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12076837	0.88[EUR][1000 genomes]
rs12126834	0.90[EUR][1000 genomes]
rs12136704	0.93[EUR][1000 genomes]
rs12144426	0.90[EUR][1000 genomes]
rs12402371	0.96[EUR][1000 genomes]
rs12409766	0.96[EUR][1000 genomes]
rs12734750	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1432119	0.90[EUR][1000 genomes]
rs1529642	0.88[EUR][1000 genomes]
rs1530889	0.88[EUR][1000 genomes]
rs17423493	1.00[YRI][hapmap]
rs17423848	1.00[YRI][hapmap]
rs1864791	0.96[EUR][1000 genomes]
rs2116519	0.81[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4074897	0.87[TSI][hapmap]
rs4656481	0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs4656484	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4656485	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4657530	0.90[EUR][1000 genomes]
rs6426968	0.87[TSI][hapmap]
rs6681924	0.81[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs6696964	0.93[EUR][1000 genomes]
rs6698973	0.87[TSI][hapmap]
rs6700193	0.96[EUR][1000 genomes]
rs715421	1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs724139	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7513325	0.87[TSI][hapmap]
rs7548172	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9787101	1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs9787239	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1551179	CD48	cis	parietal	SCAN
rs1551179	RCSD1	cis	parietal	SCAN
rs1551179	PBX1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166147600-166165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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