Variant report

Variant	rs4858502
Chromosome Location	chr3:23371899-23371900
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	chr3:23370714..23373096-chr3:23375354..23377337,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1013460	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1027379	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1032499	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs11129113	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11129116	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11129119	0.80[JPT][hapmap]
rs11708117	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11708176	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11715841	0.90[JPT][hapmap]
rs11717397	0.91[ASN][1000 genomes]
rs11720461	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11916411	0.90[JPT][hapmap]
rs11920019	0.85[EUR][1000 genomes]
rs12330262	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12330479	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs12493361	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12496983	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12497974	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629848	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12715047	0.84[ASN][1000 genomes]
rs13074192	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13080261	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13080401	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081371	0.82[ASN][1000 genomes]
rs13321359	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13326048	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1495131	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498809	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs1498811	0.90[JPT][hapmap]
rs1532355	0.96[ASN][1000 genomes]
rs1552930	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1692617	0.89[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs1692650	0.81[JPT][hapmap]
rs1692651	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs1692652	0.80[AMR][1000 genomes]
rs1695171	0.89[CHB][hapmap];0.80[AMR][1000 genomes]
rs1695181	0.80[ASN][1000 genomes]
rs1695200	0.83[MEX][hapmap]
rs17012812	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012869	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1874235	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1908773	0.80[AMR][1000 genomes]
rs1973400	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2055310	0.90[JPT][hapmap]
rs2133331	0.85[JPT][hapmap]
rs2172828	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2359759	0.89[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs2359763	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs2884731	0.91[GIH][hapmap]
rs3104243	0.89[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap]
rs3111311	0.90[JPT][hapmap]
rs34919006	0.85[ASN][1000 genomes]
rs3817002	0.95[JPT][hapmap]
rs4241511	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4241512	0.87[ASN][1000 genomes]
rs4488778	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858062	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4858064	0.82[ASN][1000 genomes]
rs4858071	0.87[ASN][1000 genomes]
rs4858072	0.87[ASN][1000 genomes]
rs4858077	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4858483	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858484	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858491	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858492	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4858496	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858497	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4858500	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858504	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4858506	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4858508	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4858509	0.85[ASN][1000 genomes]
rs4858511	0.87[ASN][1000 genomes]
rs59429714	0.88[ASN][1000 genomes]
rs6550746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6550748	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6550755	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6550756	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6767599	0.81[JPT][hapmap]
rs6769173	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs6776424	0.90[JPT][hapmap]
rs6780723	0.95[JPT][hapmap]
rs6780787	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs6784195	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6784771	0.83[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs6795492	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6796840	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6797907	0.90[JPT][hapmap]
rs6798153	0.90[JPT][hapmap]
rs6804123	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805889	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs704533	0.82[MEX][hapmap]
rs716457	0.89[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7429470	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7613091	1.00[JPT][hapmap]
rs7617072	0.83[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[ASN][1000 genomes]
rs7622784	0.87[ASN][1000 genomes]
rs7631334	0.89[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs7645209	0.81[JPT][hapmap]
rs778459	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs778460	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs778461	0.81[AMR][1000 genomes]
rs778462	0.89[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs778468	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs778470	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs778471	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs778476	0.81[JPT][hapmap];0.87[MEX][hapmap]
rs778480	0.95[JPT][hapmap];0.83[MEX][hapmap]
rs778484	0.82[AMR][1000 genomes]
rs778485	0.82[ASN][1000 genomes]
rs778486	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.80[ASN][1000 genomes]
rs778488	0.82[ASN][1000 genomes]
rs778494	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs778506	0.89[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs778508	0.82[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs778510	0.90[JPT][hapmap]
rs778514	0.90[JPT][hapmap]
rs778523	0.95[JPT][hapmap]
rs9310715	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9809176	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9816895	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9821101	0.90[EUR][1000 genomes]
rs9822422	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825778	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9826089	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9826647	0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9826877	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs9830388	0.85[JPT][hapmap]
rs9836787	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs9839738	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9840820	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9841123	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs9841944	0.87[ASN][1000 genomes]
rs9846398	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9847027	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9847958	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9848077	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9849176	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9849424	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9853489	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9854148	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9854590	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9859515	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9859651	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9861803	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9864908	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs9865602	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9873317	0.81[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9874082	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9874519	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9874822	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9881332	0.95[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	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv589948	chr3:23287141-23390221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004417	chr3:23318797-23389422	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4858502	RAB5A	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23357000-23378800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:23366600-23372600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:23367000-23378800	Weak transcription	HSMMtube	muscle
4	chr3:23367200-23373000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:23367400-23391400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:23368000-23373000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:23368000-23374400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:23368000-23374600	Weak transcription	NHEK	skin
9	chr3:23368000-23391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:23370800-23372200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:23371000-23372000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:23371000-23372000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:23371000-23372200	Enhancers	Brain Hippocampus Middle	brain
14	chr3:23371200-23374400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:23371400-23372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:23371400-23372800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:23371400-23378400	Weak transcription	Psoas Muscle	Psoas

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