Variant report

Variant	rs2142630
Chromosome Location	chr1:171124343-171124344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10489229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912425	0.93[AFR][1000 genomes]
rs11809504	0.82[ASN][1000 genomes]
rs11812044	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11812061	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12405599	0.82[ASN][1000 genomes]
rs12406572	0.82[ASN][1000 genomes]
rs17564980	0.82[ASN][1000 genomes]
rs17565336	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17565579	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17565766	0.86[ASN][1000 genomes]
rs17565793	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17565983	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17565990	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17566256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17623477	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17623598	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17623833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17640463	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1920150	0.84[AFR][1000 genomes]
rs2266780	0.82[ASN][1000 genomes]
rs2272797	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272799	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272800	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2281006	0.86[ASN][1000 genomes]
rs2281007	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2281008	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28363571	0.82[ASN][1000 genomes]
rs35156637	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3817765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55639094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57147275	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57519348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57678907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58044560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58374074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58509777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59184216	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6608452	0.86[ASN][1000 genomes]
rs6608453	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6608454	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67522662	0.93[AFR][1000 genomes]
rs7051747	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7054839	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7061710	0.82[ASN][1000 genomes]
rs7063044	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7066454	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72712658	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72712685	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7879557	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7885012	0.93[AFR][1000 genomes]
rs7885569	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7886938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7887142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7889807	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7889839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs909531	0.82[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2142630	RP1-127D3.4	cis	Adipose Subcutaneous	GTEx
rs2142630	FMO2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171121000-171129000	Weak transcription	Fetal Kidney	kidney
2	chr1:171121400-171130200	Weak transcription	Right Atrium	heart
3	chr1:171122000-171127200	Weak transcription	Fetal Lung	lung
4	chr1:171122000-171129400	Weak transcription	Adipose Nuclei	Adipose

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