Variant report

Variant	rs10513393
Chromosome Location	chr3:151054115-151054116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151052968..151055186-chr3:151065504..151067595,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10513387	0.88[CEU][hapmap]
rs13321176	1.00[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs13322120	0.82[CEU][hapmap]
rs13327359	0.81[CEU][hapmap]
rs1388625	0.94[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1549829	0.88[CEU][hapmap];1.00[LWK][hapmap]
rs1554120	0.88[CEU][hapmap]
rs17204437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17204459	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap]
rs17282940	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17282947	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17290219	0.88[CEU][hapmap]
rs17304673	0.85[CEU][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28386791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28734805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55751359	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6780660	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6792089	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73157938	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73157954	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73157974	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73157991	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7633788	0.82[CEU][hapmap]
rs7633828	0.82[CEU][hapmap]
rs7634096	0.82[CEU][hapmap]
rs7637803	0.82[CEU][hapmap]
rs9289837	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap]
rs9812617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9814936	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9817216	1.00[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs9819885	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9821749	0.82[EUR][1000 genomes]
rs9821937	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9831242	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs9834154	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9836053	0.88[CEU][hapmap]
rs9838990	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9840232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9841430	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9844557	0.88[CEU][hapmap]
rs9848789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9853676	0.80[EUR][1000 genomes]
rs9854017	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9855202	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs9856118	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9859552	0.82[CEU][hapmap]
rs9859854	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9867524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9868643	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9871229	0.89[AFR][1000 genomes]
rs9871624	0.88[CEU][hapmap]
rs9872645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9875587	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9876268	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9876933	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9880395	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9881116	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[TSI][hapmap]

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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10513393	P2RY12	cis	normal skin	skin_eQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151045600-151056600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:151045600-151063600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:151047000-151055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:151049600-151057800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:151050000-151063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:151051200-151055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:151051200-151057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:151053000-151055400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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