Variant report

Variant	rs62392636
Chromosome Location	chr5:127998961-127998962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr5:127998724-127999038	K562	blood:	n/a	chr5:127998889-127998907 chr5:127998888-127998902
2	MAFK	chr5:127998706-127999067	HepG2	liver:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905 chr5:127998721-127998736
3	MAFK	chr5:127998718-127999025	HepG2	liver:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905 chr5:127998721-127998736
4	MAFF	chr5:127998722-127999017	HepG2	liver:	n/a	chr5:127998889-127998907 chr5:127998888-127998902
5	MAFK	chr5:127998717-127999033	H1-hESC	embryonic stem cell:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905 chr5:127998721-127998736
6	MAFK	chr5:127998697-127999077	IMR90	lung:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905 chr5:127998721-127998736
7	MAFK	chr5:127998737-127999038	K562	blood:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905
8	MAFK	chr5:127998718-127999028	Hela-S3	cervix:	n/a	chr5:127998888-127998902 chr5:127998892-127998901 chr5:127998890-127998905 chr5:127998891-127998901 chr5:127998885-127998905 chr5:127998895-127998906 chr5:127998895-127998906 chr5:127998894-127998905 chr5:127998721-127998736

Variant related genes	Relation type
FBN2	TF binding region
ENSG00000248634	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10428638	0.97[EUR][1000 genomes]
rs11241967	0.84[EUR][1000 genomes]
rs13159754	0.84[EUR][1000 genomes]
rs13165744	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13168117	0.84[EUR][1000 genomes]
rs13170312	0.84[EUR][1000 genomes]
rs13173006	0.97[EUR][1000 genomes]
rs13174726	0.84[EUR][1000 genomes]
rs13180032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13182099	0.84[EUR][1000 genomes]
rs13183752	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13183908	0.94[EUR][1000 genomes]
rs13184076	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13186044	0.84[EUR][1000 genomes]
rs13186599	0.84[EUR][1000 genomes]
rs13186921	0.84[EUR][1000 genomes]
rs34014539	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34045695	0.84[EUR][1000 genomes]
rs34062154	0.84[EUR][1000 genomes]
rs34195715	0.97[EUR][1000 genomes]
rs34328995	0.84[EUR][1000 genomes]
rs34343418	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34404840	0.84[EUR][1000 genomes]
rs34502997	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34548575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34607368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34891325	0.84[EUR][1000 genomes]
rs34891758	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34961050	0.84[EUR][1000 genomes]
rs35153576	0.84[EUR][1000 genomes]
rs35307918	0.84[EUR][1000 genomes]
rs35321631	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35372786	0.84[EUR][1000 genomes]
rs35439767	0.84[EUR][1000 genomes]
rs35658331	0.84[EUR][1000 genomes]
rs36017812	0.84[EUR][1000 genomes]
rs62390671	0.84[EUR][1000 genomes]
rs62390689	0.81[EUR][1000 genomes]
rs62390721	0.84[EUR][1000 genomes]
rs62392590	0.84[EUR][1000 genomes]
rs62392638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62392639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6860642	0.84[EUR][1000 genomes]
rs6860732	0.84[EUR][1000 genomes]
rs71587984	0.84[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	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830484	chr5:127936347-128087308	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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