Variant report

Variant	rs4324001
Chromosome Location	chr12:117343989-117343990
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	CTCF	chr12:117343840-117343990	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117341797..117344176-chr12:117354858..117357748,2	K562	blood:
2	chr12:117343212..117346799-chr12:117346816..117349796,3	MCF-7	breast:

Variant related genes	Relation type
FBXW8	TF binding region
ENSG00000240100	TF binding region
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10732611	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10735099	0.83[ASN][1000 genomes]
rs10735103	0.83[ASN][1000 genomes]
rs10744885	0.93[ASN][1000 genomes]
rs10774892	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774893	0.81[ASN][1000 genomes]
rs11068230	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12821492	0.92[ASN][1000 genomes]
rs2393110	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2393111	0.81[ASN][1000 genomes]
rs35833140	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3893370	0.94[ASN][1000 genomes]
rs4076700	0.82[ASN][1000 genomes]
rs4077519	0.80[ASN][1000 genomes]
rs4522274	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4562925	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4766812	0.85[ASN][1000 genomes]
rs4766814	0.84[ASN][1000 genomes]
rs4766815	0.84[ASN][1000 genomes]
rs4766818	0.81[ASN][1000 genomes]
rs4766820	0.80[ASN][1000 genomes]
rs4767474	0.83[ASN][1000 genomes]
rs4767476	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767478	0.83[ASN][1000 genomes]
rs4767480	0.80[ASN][1000 genomes]
rs4767484	0.83[ASN][1000 genomes]
rs4767485	0.83[ASN][1000 genomes]
rs6490097	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490102	0.80[ASN][1000 genomes]
rs7297155	0.80[ASN][1000 genomes]
rs7297934	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298447	0.81[ASN][1000 genomes]
rs7303882	0.82[ASN][1000 genomes]
rs7312388	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316144	0.81[ASN][1000 genomes]
rs7484620	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7487081	0.84[ASN][1000 genomes]
rs7952766	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954824	0.83[ASN][1000 genomes]
rs7958030	0.81[ASN][1000 genomes]
rs7973240	0.83[ASN][1000 genomes]
rs7976815	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4324001	FBXW8	cis	Whole Blood	GTEx
rs4324001	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

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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