Variant report

Variant	rs10520005
Chromosome Location	chr5:127998779-127998780
allele	A/C
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10040118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051549	0.91[ASN][1000 genomes]
rs10053477	0.85[ASN][1000 genomes]
rs10062218	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10064348	0.86[ASN][1000 genomes]
rs10070510	0.84[ASN][1000 genomes]
rs10073583	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10073602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10077056	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10477688	0.89[ASN][1000 genomes]
rs10478817	0.85[ASN][1000 genomes]
rs12386502	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361872	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs1579297	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28468674	0.94[EUR][1000 genomes]
rs4314459	0.89[EUR][1000 genomes]
rs4355567	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4371806	0.94[EUR][1000 genomes]
rs4382207	0.85[ASN][1000 genomes]
rs4836388	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs56119036	0.85[ASN][1000 genomes]
rs56270098	0.86[ASN][1000 genomes]
rs59001046	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870036	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73784408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787636	0.94[EUR][1000 genomes]
rs7729188	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327482	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9327483	0.94[ASN][1000 genomes]
rs9885266	0.94[EUR][1000 genomes];0.86[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	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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