Variant report

Variant	rs62485391
Chromosome Location	chr7:140666718-140666719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140664931..140667594-chr7:140670729..140673169,2	K562	blood:
2	chr7:140661687..140663739-chr7:140664738..140669110,3	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10240888	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10255167	0.91[ASN][1000 genomes]
rs10265001	0.93[ASN][1000 genomes]
rs10268118	0.95[ASN][1000 genomes]
rs10281975	0.84[EUR][1000 genomes]
rs10488098	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1089264	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11983228	0.82[EUR][1000 genomes]
rs13236223	0.93[ASN][1000 genomes]
rs13438418	0.84[EUR][1000 genomes]
rs13438609	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476868	0.88[EUR][1000 genomes]
rs16882367	0.83[ASN][1000 genomes]
rs17622717	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17623204	0.88[EUR][1000 genomes]
rs17695341	0.88[EUR][1000 genomes]
rs17695623	0.88[EUR][1000 genomes]
rs17695707	0.86[EUR][1000 genomes]
rs17695935	0.82[EUR][1000 genomes]
rs17695995	0.88[EUR][1000 genomes]
rs1968140	0.84[EUR][1000 genomes]
rs2079827	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs246739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2688430	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28766874	0.85[ASN][1000 genomes]
rs3852286	0.95[ASN][1000 genomes]
rs3864527	0.95[ASN][1000 genomes]
rs38715	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38717	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38718	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38719	0.88[EUR][1000 genomes]
rs38720	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38722	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38723	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38726	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38730	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38731	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38734	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38736	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38739	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38740	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41282721	0.84[EUR][1000 genomes]
rs55720380	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55875248	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56055746	0.84[EUR][1000 genomes]
rs56115934	0.80[EUR][1000 genomes]
rs56347011	0.93[EUR][1000 genomes]
rs57143942	0.84[EUR][1000 genomes]
rs57620608	0.84[EUR][1000 genomes]
rs57675404	0.88[EUR][1000 genomes]
rs57846481	0.88[EUR][1000 genomes]
rs58901822	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59183598	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59232128	0.88[EUR][1000 genomes]
rs59477283	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59816436	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60081231	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60164573	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60251368	0.88[EUR][1000 genomes]
rs62484288	0.88[EUR][1000 genomes]
rs62484291	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62484294	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62484295	0.86[EUR][1000 genomes]
rs62484299	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62484300	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485366	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485368	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485369	0.84[EUR][1000 genomes]
rs62485370	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485372	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485377	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62485379	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62485383	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62485390	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62485451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485452	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62485453	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62487899	0.84[EUR][1000 genomes]
rs62487912	0.84[EUR][1000 genomes]
rs62487913	0.80[EUR][1000 genomes]
rs62487914	0.84[EUR][1000 genomes]
rs62487916	0.84[EUR][1000 genomes]
rs62487918	0.84[EUR][1000 genomes]
rs62487920	0.84[EUR][1000 genomes]
rs62487921	0.84[EUR][1000 genomes]
rs62487923	0.84[EUR][1000 genomes]
rs71645962	0.84[EUR][1000 genomes]
rs71645993	0.84[EUR][1000 genomes]
rs73492596	0.81[EUR][1000 genomes]
rs7810757	0.84[EUR][1000 genomes]
rs801117	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs801121	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs801127	0.89[AMR][1000 genomes];0.81[EUR][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62485391	MRPS33	Cis_1M	lymphoblastoid	RTeQTL
rs62485391	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140657200-140669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140665200-140667600	Enhancers	Fetal Intestine Large	intestine
3	chr7:140666400-140667000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:140666400-140667800	Enhancers	Fetal Intestine Small	intestine
5	chr7:140666400-140668800	Enhancers	HepG2	liver

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