Variant report

Variant	rs6488253
Chromosome Location	chr12:10244371-10244372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10772231	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10772233	0.97[ASN][1000 genomes]
rs10772234	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10845030	0.94[ASN][1000 genomes]
rs10845031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10845032	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845035	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10845037	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10845038	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10845039	1.00[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10845040	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10845041	1.00[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs11053575	0.97[ASN][1000 genomes]
rs11053577	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11053578	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11053579	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11053580	1.00[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs11053581	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11053589	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12300167	0.90[EUR][1000 genomes]
rs12370211	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12371884	0.96[ASN][1000 genomes]
rs12372259	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12372577	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12819522	0.96[ASN][1000 genomes]
rs1352477	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1387140	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1814641	0.94[ASN][1000 genomes]
rs2087307	0.80[YRI][hapmap]
rs2200743	0.95[ASN][1000 genomes]
rs2220436	0.84[EUR][1000 genomes]
rs2277416	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2306891	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2306892	0.90[EUR][1000 genomes]
rs2306893	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2306894	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2401604	0.80[YRI][hapmap]
rs2401614	0.92[EUR][1000 genomes]
rs2401615	0.90[EUR][1000 genomes]
rs2401616	0.87[EUR][1000 genomes]
rs3816845	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3825300	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3886137	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3886143	1.00[CEU][hapmap]
rs3887490	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3912643	0.96[ASN][1000 genomes]
rs3912644	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3912645	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3994131	0.90[EUR][1000 genomes]
rs3994132	0.90[EUR][1000 genomes]
rs4265666	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4499082	0.90[EUR][1000 genomes]
rs4595634	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4764247	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4764248	0.92[EUR][1000 genomes]
rs4764249	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4764250	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4764251	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5012088	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6416262	0.90[EUR][1000 genomes]
rs6488248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6488249	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6488250	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs6488252	0.90[EUR][1000 genomes]
rs6488254	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488255	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6488256	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488257	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488258	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488259	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7139405	0.96[ASN][1000 genomes]
rs7313750	0.92[EUR][1000 genomes]
rs7953886	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7956327	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7957278	0.92[EUR][1000 genomes]
rs7960611	0.86[CEU][hapmap]
rs7961436	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7961483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7962246	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7962341	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7969125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7970859	0.87[ASN][1000 genomes]
rs7971593	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7972187	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7974909	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7975127	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7976945	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7977902	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7979762	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7980213	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7980801	1.00[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs952545	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs952546	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10222800-10248400	Weak transcription	Psoas Muscle	Psoas
2	chr12:10228600-10247200	Weak transcription	HUVEC	blood vessel
3	chr12:10237000-10244800	Weak transcription	Left Ventricle	heart
4	chr12:10237000-10246200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:10243000-10245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:10243000-10246000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:10243200-10246200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:10243200-10247200	Weak transcription	Right Atrium	heart
10	chr12:10243600-10244400	Enhancers	GM12878-XiMat	blood
11	chr12:10243800-10245600	Weak transcription	Primary monocytes fromperipheralblood	blood

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