Variant report

Variant	rs10958290
Chromosome Location	chr8:52554770-52554771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10088109	0.85[EUR][1000 genomes]
rs10101657	0.85[EUR][1000 genomes]
rs10112473	0.85[EUR][1000 genomes]
rs10113743	0.85[EUR][1000 genomes]
rs10958289	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541234	0.82[EUR][1000 genomes]
rs12543254	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12549383	0.82[EUR][1000 genomes]
rs12678094	0.84[EUR][1000 genomes]
rs13252521	0.82[EUR][1000 genomes]
rs13259819	0.85[EUR][1000 genomes]
rs13274571	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439031	0.84[EUR][1000 genomes]
rs17276712	0.90[ASN][1000 genomes]
rs17277222	0.99[ASN][1000 genomes]
rs2976204	0.84[EUR][1000 genomes]
rs34773755	0.84[EUR][1000 genomes]
rs35326600	0.84[EUR][1000 genomes]
rs35363824	0.81[EUR][1000 genomes]
rs4294172	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295654	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377955	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4382468	0.85[EUR][1000 genomes]
rs4407875	0.85[EUR][1000 genomes]
rs4517108	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541902	0.85[EUR][1000 genomes]
rs4565451	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4621801	0.85[EUR][1000 genomes]
rs4636199	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873200	0.85[EUR][1000 genomes]
rs4873567	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873570	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873571	0.85[EUR][1000 genomes]
rs4873576	0.84[EUR][1000 genomes]
rs5000332	0.85[EUR][1000 genomes]
rs6473631	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6473634	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473637	0.85[EUR][1000 genomes]
rs6473638	0.84[EUR][1000 genomes]
rs6981246	0.90[ASN][1000 genomes]
rs6986081	0.90[ASN][1000 genomes]
rs6987982	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988401	0.85[EUR][1000 genomes]
rs7005202	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010751	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012655	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014372	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7018227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830013	0.81[EUR][1000 genomes]
rs7834053	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7838683	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180923	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9284000	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10958290	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52536600-52557400	Weak transcription	Left Ventricle	heart
2	chr8:52554000-52557600	Weak transcription	Right Ventricle	heart

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