Variant report

Variant	rs4858855
Chromosome Location	chr3:47565133-47565134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47563227..47565346-chr3:47576506..47578189,2	K562	blood:
2	chr3:47564010..47565743-chr3:47604722..47606616,2	MCF-7	breast:
3	chr3:47562617..47565330-chr3:47829264..47832654,4	MCF-7	breast:
4	chr3:47564092..47565770-chr3:47566489..47568024,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs1038393	0.87[AMR][1000 genomes]
rs10865947	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1091068	1.00[AMR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11707272	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs12491029	0.86[YRI][hapmap]
rs12631697	1.00[TSI][hapmap]
rs13077134	0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs1531874	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1872165	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs2170814	0.90[ASW][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs295431	1.00[AMR][1000 genomes]
rs295432	1.00[AMR][1000 genomes]
rs295434	0.87[AMR][1000 genomes]
rs295448	0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs295450	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs295451	1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs295453	1.00[AMR][1000 genomes]
rs295454	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs295455	1.00[AMR][1000 genomes]
rs295456	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs295457	1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs295459	1.00[AMR][1000 genomes]
rs4383546	1.00[EUR][1000 genomes]
rs448018	0.87[AMR][1000 genomes]
rs4858812	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs4858823	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6442066	1.00[TSI][hapmap]
rs6442068	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs6442069	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs648226	1.00[AMR][1000 genomes]
rs6785538	1.00[AMR][1000 genomes]
rs6788978	1.00[AMR][1000 genomes]
rs6789730	0.87[AMR][1000 genomes]
rs7372780	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7612191	0.87[AMR][1000 genomes]
rs7621853	0.87[AMR][1000 genomes]
rs7644043	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs807930	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs900688	0.87[AMR][1000 genomes]
rs900689	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs900690	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs900692	0.87[AMR][1000 genomes]
rs900693	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs900694	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9828124	1.00[AMR][1000 genomes]
rs9859947	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47555600-47568200	Weak transcription	Right Atrium	heart
2	chr3:47563800-47565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:47563800-47565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:47564000-47566200	Weak transcription	Fetal Thymus	thymus
5	chr3:47564200-47565200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:47564200-47565400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:47564200-47568000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:47564200-47569600	Weak transcription	NHEK	skin
9	chr3:47564400-47566200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:47564400-47569400	Weak transcription	HMEC	breast
11	chr3:47564600-47565200	Weak transcription	K562	blood
12	chr3:47564600-47566600	Enhancers	HepG2	liver
13	chr3:47564600-47567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:47564800-47565200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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