Variant report

Variant	rs12186491
Chromosome Location	chr5:147593497-147593498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147589078..147591564-chr5:147592751..147595184,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10037138	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs10038416	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10045567	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10055415	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs10058023	0.80[EUR][1000 genomes]
rs10067624	0.80[EUR][1000 genomes]
rs10071354	0.80[EUR][1000 genomes]
rs10075545	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1023714	0.80[EUR][1000 genomes]
rs10463281	0.80[EUR][1000 genomes]
rs10463404	0.80[EUR][1000 genomes]
rs10463405	0.80[EUR][1000 genomes]
rs10477364	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10477366	0.80[EUR][1000 genomes]
rs11168042	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1119451	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1158939	0.80[EUR][1000 genomes]
rs1158940	0.80[EUR][1000 genomes]
rs1159203	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1159204	0.80[EUR][1000 genomes]
rs1159205	0.80[EUR][1000 genomes]
rs11741093	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11953708	0.85[CHB][hapmap]
rs11960009	0.84[CHB][hapmap]
rs12516071	0.80[EUR][1000 genomes]
rs12517179	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12653739	0.83[EUR][1000 genomes]
rs12654024	0.83[EUR][1000 genomes]
rs13152992	0.80[EUR][1000 genomes]
rs13155371	0.80[EUR][1000 genomes]
rs13178303	0.80[EUR][1000 genomes]
rs1368304	1.00[GIH][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs1368307	0.80[EUR][1000 genomes]
rs1368308	0.80[EUR][1000 genomes]
rs1368309	0.80[EUR][1000 genomes]
rs1368310	0.80[EUR][1000 genomes]
rs1432688	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432693	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1432694	0.80[EUR][1000 genomes]
rs1432695	0.80[EUR][1000 genomes]
rs1432698	0.84[EUR][1000 genomes]
rs1432699	0.80[EUR][1000 genomes]
rs1432702	0.80[EUR][1000 genomes]
rs1432703	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1583279	0.83[EUR][1000 genomes]
rs1583284	0.80[EUR][1000 genomes]
rs1594647	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107992	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2082389	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2400500	0.80[EUR][1000 genomes]
rs2895730	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2963725	0.89[EUR][1000 genomes]
rs2963727	0.80[EUR][1000 genomes]
rs4532356	0.80[EUR][1000 genomes]
rs4705237	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705239	0.80[EUR][1000 genomes]
rs4705246	0.81[EUR][1000 genomes]
rs6580537	0.83[EUR][1000 genomes]
rs6580538	0.83[EUR][1000 genomes]
rs6874673	0.85[CHB][hapmap]
rs6876753	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6893320	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6896453	0.90[CHB][hapmap]
rs7708483	0.85[CHB][hapmap]
rs7715343	0.80[EUR][1000 genomes]
rs7732168	0.80[EUR][1000 genomes]
rs9325090	0.80[EUR][1000 genomes]
rs9325091	0.80[EUR][1000 genomes]
rs9325092	0.80[EUR][1000 genomes]
rs986673	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9885303	0.80[EUR][1000 genomes]
rs9986324	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3379767	chr5:147591284-147593607	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147589600-147594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:147593200-147595600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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