Variant report

Variant	rs6080058
Chromosome Location	chr20:15944725-15944726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1012298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12624676	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1339257	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs1339258	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.95[ASN][1000 genomes]
rs2281418	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58630549	0.82[AMR][1000 genomes]
rs59581588	0.82[AMR][1000 genomes]
rs60190468	0.82[AMR][1000 genomes]
rs6034328	0.83[CHB][hapmap]
rs6043620	0.83[CHB][hapmap]
rs6074979	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6074980	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6074983	0.86[ASN][1000 genomes]
rs6074984	0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs6080023	0.83[CHB][hapmap]
rs6080032	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6080042	0.81[EUR][1000 genomes]
rs6080044	0.81[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6080048	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080050	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080052	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6080055	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080056	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080063	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6080064	0.88[ASN][1000 genomes]
rs6080069	0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.92[ASN][1000 genomes]
rs6110832	0.88[CHB][hapmap]
rs6110847	0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6110848	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6131739	0.82[AMR][1000 genomes]
rs6131740	0.91[AMR][1000 genomes]
rs6131741	0.91[AMR][1000 genomes]
rs6131743	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6131745	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6131747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131748	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6131749	0.87[ASN][1000 genomes]
rs6131750	0.88[ASN][1000 genomes]
rs6135588	0.81[MEX][hapmap]
rs6135594	0.81[MEX][hapmap]
rs6135598	0.82[JPT][hapmap];0.93[MEX][hapmap];0.91[AMR][1000 genomes]
rs6135600	0.91[AMR][1000 genomes]
rs6135601	0.91[AMR][1000 genomes]
rs6135602	0.81[MEX][hapmap];0.82[AMR][1000 genomes]
rs6135603	0.91[AMR][1000 genomes]
rs6135604	0.91[AMR][1000 genomes]
rs6135605	0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs6135606	0.80[AMR][1000 genomes]
rs6135607	0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs6135608	0.81[CHB][hapmap];0.82[CHD][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes]
rs6135614	0.91[AMR][1000 genomes]
rs6135620	0.85[ASN][1000 genomes]
rs6135621	1.00[ASN][1000 genomes]
rs6135622	0.81[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs73597741	0.86[AFR][1000 genomes]
rs766970	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8183396	0.93[MEX][hapmap]
rs9967921	0.81[ASN][1000 genomes]

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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6080058	KLHL5	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15923000-15951200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:15939600-15947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:15943000-15954600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:15944200-15952200	Strong transcription	Primary B cells from cord blood	blood

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