Variant report

Variant	rs2653653
Chromosome Location	chr18:45303457-45303458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1004765	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1107933	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1107934	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1466905	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1579118	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1604556	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894150	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1910235	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1945724	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1995413	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2097175	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2134374	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174028	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2653629	0.85[EUR][1000 genomes]
rs2653630	0.90[EUR][1000 genomes]
rs2653632	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653633	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653634	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653635	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2653636	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2653637	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2653638	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2653639	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2653641	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653642	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653643	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2653644	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2653645	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653647	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653648	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653651	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653652	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2653655	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2653656	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2653657	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852942	0.85[ASN][1000 genomes]
rs2852949	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2852950	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852952	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852954	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2852958	0.83[ASN][1000 genomes]
rs2852960	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2852961	0.89[EUR][1000 genomes]
rs2852966	0.88[EUR][1000 genomes]
rs2852967	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852969	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852970	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62086466	0.88[EUR][1000 genomes]
rs877354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9954192	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425854	chr18:45188942-45336590	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1008833	chr18:45299372-45304141	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2653653	JUP	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45299600-45304600	Weak transcription	Placenta	Placenta
2	chr18:45299600-45306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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