Variant report

Variant	rs62485451
Chromosome Location	chr7:140671882-140671883
allele	C/G
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:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10240888	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.81[EUR][1000 genomes]
rs1089264	0.83[EUR][1000 genomes]
rs13236223	0.93[ASN][1000 genomes]
rs13438418	0.81[EUR][1000 genomes]
rs13438609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16882367	0.83[ASN][1000 genomes]
rs17161798	0.83[AFR][1000 genomes]
rs2079827	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs246739	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2688430	0.83[EUR][1000 genomes]
rs28766874	0.85[ASN][1000 genomes]
rs28793937	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3852286	0.95[ASN][1000 genomes]
rs3864527	0.95[ASN][1000 genomes]
rs38715	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38717	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38718	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38719	0.85[EUR][1000 genomes]
rs38720	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38722	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38723	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38726	0.85[EUR][1000 genomes]
rs38730	0.85[EUR][1000 genomes]
rs38731	0.85[EUR][1000 genomes]
rs38734	0.83[EUR][1000 genomes]
rs38739	0.83[EUR][1000 genomes]
rs38740	0.83[EUR][1000 genomes]
rs56347011	0.81[EUR][1000 genomes]
rs57143942	0.81[EUR][1000 genomes]
rs58901822	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60164573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485369	0.81[EUR][1000 genomes]
rs62485391	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485452	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62485453	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7810757	0.81[EUR][1000 genomes]
rs801117	0.83[EUR][1000 genomes]
rs877730	0.83[AFR][1000 genomes]

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	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
4	esv1797438	chr7:140666808-140682332	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62485451	MRPS33	Cis_1M	lymphoblastoid	RTeQTL
rs62485451	BRAF	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140667600-140672400	Weak transcription	Placenta	Placenta
2	chr7:140667600-140672600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:140667800-140672800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:140671400-140672200	Enhancers	HepG2	liver

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