Variant report

Variant	rs218888
Chromosome Location	chr8:90691921-90691922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10108588	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1032516	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1040327	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10956191	0.81[ASN][1000 genomes]
rs10956209	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12216864	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13266524	0.84[EUR][1000 genomes]
rs13278061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1603289	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160423	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160424	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160429	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160437	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160441	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160447	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160448	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160449	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs160450	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs160451	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160453	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs183363	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2088198	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2101854	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs216989	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218882	0.87[EUR][1000 genomes]
rs218884	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs218885	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs218886	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218887	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs218889	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218890	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs218896	0.82[EUR][1000 genomes]
rs218915	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs218917	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218918	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs218943	0.83[EUR][1000 genomes]
rs218945	0.83[EUR][1000 genomes]
rs218950	0.83[EUR][1000 genomes]
rs218951	0.82[EUR][1000 genomes]
rs218952	0.81[EUR][1000 genomes]
rs28374917	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840206	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28819479	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34036322	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs419004	0.83[EUR][1000 genomes]
rs4961157	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4961159	0.83[EUR][1000 genomes]
rs56237088	0.83[EUR][1000 genomes]
rs56403153	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6999425	0.85[EUR][1000 genomes]
rs7003919	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004089	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3340425	chr8:90686312-90722629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs218888	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218888	RP11-37B2.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90685400-90692800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90689600-90692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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