Variant report

Variant	rs4448558
Chromosome Location	chr1:47565625-47565626
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47565566..47567754-chr1:47569230..47571813,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1021827	0.86[YRI][hapmap]
rs10890445	0.86[YRI][hapmap]
rs10890446	1.00[JPT][hapmap]
rs10890447	1.00[JPT][hapmap]
rs10890452	0.85[AMR][1000 genomes]
rs10890453	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890454	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890455	0.85[AMR][1000 genomes]
rs10890457	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs10890460	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10890464	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11211422	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11211423	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11211439	1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11211442	0.85[AMR][1000 genomes]
rs11211446	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs11211451	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11211457	0.90[YRI][hapmap]
rs12022635	0.85[YRI][hapmap]
rs12037014	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12564635	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12734327	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12736235	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1393667	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1502908	1.00[JPT][hapmap]
rs1847222	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1847223	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1967757	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2016160	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2055500	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2405580	1.00[JPT][hapmap]
rs4375314	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4492665	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4598535	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4926773	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4926785	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4926793	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6664392	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs6664496	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6669621	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6683137	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6690005	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7545399	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9326151	0.86[YRI][hapmap]
rs9326152	0.85[YRI][hapmap]
rs9701154	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs9793202	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9793471	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv13964	chr1:47565590-47574182	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47557800-47573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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