Variant report

Variant	rs2480927
Chromosome Location	chr9:21366894-21366895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10116615	0.87[EUR][1000 genomes]
rs10117677	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs10119678	0.87[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10125010	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs10757212	0.90[EUR][1000 genomes]
rs10757213	0.94[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs10811505	0.88[CEU][hapmap]
rs10811522	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10811523	0.94[CEU][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10964878	0.83[MEX][hapmap]
rs10964953	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10964954	0.87[EUR][1000 genomes]
rs10964955	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10964956	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs10964958	0.88[EUR][1000 genomes]
rs10964960	0.90[EUR][1000 genomes]
rs10964966	0.90[EUR][1000 genomes]
rs12237982	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1224392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683349	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1330311	0.88[EUR][1000 genomes]
rs1330313	0.94[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs1360286	0.87[EUR][1000 genomes]
rs1467734	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1467735	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1467736	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1475547	0.88[EUR][1000 genomes]
rs1475548	0.88[EUR][1000 genomes]
rs1543874	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs1820314	0.83[CEU][hapmap]
rs2094787	0.94[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2094788	0.94[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4406500	0.88[EUR][1000 genomes]
rs4978092	0.88[EUR][1000 genomes]
rs4978093	0.87[EUR][1000 genomes]
rs4978097	0.88[EUR][1000 genomes]
rs600118	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616873	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6475527	0.84[EUR][1000 genomes]
rs667069	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67212517	0.88[EUR][1000 genomes]
rs7020867	0.88[EUR][1000 genomes]
rs7021699	0.87[EUR][1000 genomes]
rs7032044	0.86[EUR][1000 genomes]
rs7035600	0.91[EUR][1000 genomes]
rs7035669	0.90[EUR][1000 genomes]
rs7849902	0.85[EUR][1000 genomes]
rs7853081	0.90[EUR][1000 genomes]
rs7862940	0.90[EUR][1000 genomes]
rs7868334	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs7872479	0.91[EUR][1000 genomes]
rs8729	0.94[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs9298814	0.88[CEU][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	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892736	chr9:21327141-21391698	Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv892737	chr9:21352862-21408824	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2480927	KLHL9	cis	multi-tissue	Pritchard
rs2480927	KLHL9	Cis_1M	lymphoblastoid	RTeQTL
rs2480927	KLHL9	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21360200-21367000	Weak transcription	GM12878-XiMat	blood
2	chr9:21366600-21367200	Bivalent Enhancer	Primary B cells from cord blood	blood

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