Variant report

Variant	rs13361872
Chromosome Location	chr5:127998932-127998933
allele	A/T
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: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10040226	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10045094	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060222	0.91[ASN][1000 genomes]
rs10066569	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10066620	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10477686	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478816	0.84[ASN][1000 genomes]
rs10520005	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12521101	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13185878	0.84[ASN][1000 genomes]
rs1363467	0.91[ASN][1000 genomes]
rs1363470	0.91[ASN][1000 genomes]
rs1422459	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35638608	0.93[ASN][1000 genomes]
rs3935200	0.81[ASN][1000 genomes]
rs3935201	0.93[ASN][1000 genomes]
rs4240408	0.84[ASN][1000 genomes]
rs4277962	0.84[ASN][1000 genomes]
rs4351202	0.91[ASN][1000 genomes]
rs4362987	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4370320	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4415123	0.84[ASN][1000 genomes]
rs4482943	0.91[ASN][1000 genomes]
rs4579300	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836384	0.93[ASN][1000 genomes]
rs4836385	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55700282	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55877902	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56413030	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60454446	0.85[ASN][1000 genomes]
rs6595848	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595849	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6870419	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6876464	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6895717	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6897611	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6897794	0.85[ASN][1000 genomes]
rs73350645	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7715195	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7715781	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9327479	0.84[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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