Variant report

Variant	rs2577399
Chromosome Location	chr5:128287929-128287930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs11241987	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11740215	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11743171	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12189398	0.83[ASN][1000 genomes]
rs12518184	0.83[ASN][1000 genomes]
rs13166325	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169590	0.86[ASN][1000 genomes]
rs13190393	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421890	0.94[ASN][1000 genomes]
rs17616784	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17616974	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17616991	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17678874	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1898543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898544	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526196	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526201	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526202	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526209	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526210	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526211	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526212	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526213	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526214	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526225	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2526239	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2526240	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526241	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526243	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526245	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2526247	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2526248	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2526249	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2526251	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2526253	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2526257	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545015	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577402	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577403	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577426	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577428	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577429	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577430	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577432	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577433	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577435	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577436	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577437	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577438	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577439	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2577440	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2577442	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2577443	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2577445	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577446	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577477	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2577504	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577506	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577507	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577508	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577509	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577510	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577511	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577512	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577513	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577514	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577528	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577529	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577530	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577533	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577534	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577535	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577536	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577537	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577538	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577540	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2577541	0.92[ASN][1000 genomes]
rs2577542	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577543	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577544	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577545	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577546	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577547	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2577555	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577556	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577560	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577562	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094874	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098299	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3098300	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34075274	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34299037	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34683252	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34813132	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34831887	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35044703	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35386300	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35388070	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590597	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35696888	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767068	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779465	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35869181	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36139771	0.85[AMR][1000 genomes]
rs36147677	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs36149993	0.83[AMR][1000 genomes]
rs36155285	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36157890	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36171961	0.83[AMR][1000 genomes]
rs36175029	0.83[AMR][1000 genomes]
rs36182790	0.81[AMR][1000 genomes]
rs36188905	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36191603	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36192190	0.83[AMR][1000 genomes]
rs36192465	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62391271	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391272	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391297	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62399671	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62399676	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62399681	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62399682	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62399683	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62399685	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67198161	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6861986	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881032	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71587998	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71587999	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71588000	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71592877	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7349831	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462443	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv599700	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv882839	chr5:128205828-128390167	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2577399	SLC27A6	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128286800-128288200	Enhancers	Placenta	Placenta
2	chr5:128287800-128288400	Enhancers	Placenta Amnion	Placenta Amnion

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