Variant report

Variant	rs8043055
Chromosome Location	chr15:45585769-45585770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10519018	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1060896	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1145097	0.82[AMR][1000 genomes]
rs1153860	0.82[AMR][1000 genomes]
rs1153862	0.82[AMR][1000 genomes]
rs11629807	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11629858	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11629859	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11631021	0.89[ASN][1000 genomes]
rs11632419	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11632651	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11632724	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11632752	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11632778	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11632920	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11636114	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11637364	0.89[ASN][1000 genomes]
rs11637838	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11637920	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11639349	0.89[ASN][1000 genomes]
rs11639420	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11639483	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11854325	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11854365	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11855414	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12440356	0.89[ASN][1000 genomes]
rs12898652	0.89[ASN][1000 genomes]
rs12898818	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12899058	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12899942	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12904150	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12908818	0.89[ASN][1000 genomes]
rs12909409	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12910009	0.89[ASN][1000 genomes]
rs12910764	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12911111	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12911186	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12913500	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12915314	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1617634	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1617984	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1706767	0.86[ASN][1000 genomes]
rs1706768	0.89[ASN][1000 genomes]
rs1706770	0.89[ASN][1000 genomes]
rs1706798	0.81[EUR][1000 genomes]
rs1719232	0.89[ASN][1000 genomes]
rs1719236	0.89[ASN][1000 genomes]
rs1719245	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1719246	0.82[AMR][1000 genomes]
rs1719250	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2002035	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2015295	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2271438	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2413768	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2413771	0.89[ASN][1000 genomes]
rs2413772	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2413773	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2413774	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2453533	0.82[AMR][1000 genomes]
rs2458225	0.89[ASN][1000 genomes]
rs2461700	0.82[AMR][1000 genomes]
rs2461705	0.89[ASN][1000 genomes]
rs2467865	0.82[AMR][1000 genomes]
rs2687511	0.89[ASN][1000 genomes]
rs2899375	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35861938	0.82[AMR][1000 genomes]
rs4533219	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6493143	0.89[ASN][1000 genomes]
rs6493144	0.89[ASN][1000 genomes]
rs6493145	0.89[ASN][1000 genomes]
rs7162022	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7165039	0.89[ASN][1000 genomes]
rs7166580	0.89[ASN][1000 genomes]
rs7167146	0.89[ASN][1000 genomes]
rs7171312	0.89[ASN][1000 genomes]
rs8024620	0.89[ASN][1000 genomes]
rs8025079	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8037583	0.81[ASN][1000 genomes]
rs8039138	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8039153	0.86[ASN][1000 genomes]
rs8039352	0.89[ASN][1000 genomes]
rs8039354	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8039540	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8040185	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8041702	0.89[ASN][1000 genomes]
rs8041874	0.89[ASN][1000 genomes]
rs8042434	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs872192	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9920290	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9921008	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921025	0.89[ASN][1000 genomes]
rs9921035	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak 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 miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	esv3428024	chr15:45584610-45586708	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8043055	CTD-2651B20.3	cis	Skin Sun Exposed Lower leg	GTEx
rs8043055	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs8043055	CTD-2651B20.3	cis	Heart Left Ventricle	GTEx
rs8043055	CTD-2651B20.3	cis	Artery Aorta	GTEx
rs8043055	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs8043055	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs8043055	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs8043055	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx
rs8043055	CTD-2651B20.3	cis	Thyroid	GTEx
rs8043055	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs8043055	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs8043055	CTD-2651B20.3	cis	lung	GTEx
rs8043055	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45572200-45592000	Weak transcription	Right Atrium	heart

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