Variant report

Variant	rs10205985
Chromosome Location	chr2:100135790-100135791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1000409	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10170425	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10172068	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10172752	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10173466	0.90[AMR][1000 genomes]
rs10186340	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10187843	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11123786	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11679115	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11683651	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11887109	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11887574	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11902994	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12464535	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12478488	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12621141	0.82[AMR][1000 genomes]
rs12623540	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13384883	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13389623	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13392042	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13394688	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13427780	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1376443	0.84[AMR][1000 genomes]
rs1451243	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1901283	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2242037	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2290256	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2305354	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2309585	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309586	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28369943	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28382954	0.86[AMR][1000 genomes]
rs3087386	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3792134	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3792146	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3792149	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3792152	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3811555	0.85[AMR][1000 genomes]
rs3828316	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4535093	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4850903	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851205	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6542879	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6542880	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6542882	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6706607	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708861	0.85[AMR][1000 genomes]
rs6713792	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714244	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6717515	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6734290	0.82[AMR][1000 genomes]
rs7558074	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7561079	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7567674	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7571202	0.82[AMR][1000 genomes]
rs7574135	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7579403	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7580448	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7585721	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7586892	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7587419	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7591212	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7598629	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7601470	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7601730	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs959929	0.94[AMR][1000 genomes];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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10205985	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs10205985	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs10205985	LYG1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100135600-100136400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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