Variant report

Variant	rs13340640
Chromosome Location	chr8:52713278-52713279
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10086351	0.87[ASN][1000 genomes]
rs10095651	0.87[ASN][1000 genomes]
rs10095739	0.86[ASN][1000 genomes]
rs10096585	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10096943	0.91[ASN][1000 genomes]
rs10110304	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112086	0.87[ASN][1000 genomes]
rs1022315	0.87[ASN][1000 genomes]
rs1022316	0.87[ASN][1000 genomes]
rs1022317	0.86[ASN][1000 genomes]
rs10435632	0.91[ASN][1000 genomes]
rs10464943	0.98[ASN][1000 genomes]
rs10504128	0.90[ASN][1000 genomes]
rs1073371	0.99[ASN][1000 genomes]
rs1073372	0.99[ASN][1000 genomes]
rs10958298	0.99[ASN][1000 genomes]
rs10958299	0.91[ASN][1000 genomes]
rs10958302	0.87[ASN][1000 genomes]
rs10958303	0.87[ASN][1000 genomes]
rs11775601	0.91[ASN][1000 genomes]
rs11777316	0.90[ASN][1000 genomes]
rs11777386	0.91[ASN][1000 genomes]
rs11777885	0.91[ASN][1000 genomes]
rs11782730	0.91[ASN][1000 genomes]
rs11784921	0.91[ASN][1000 genomes]
rs11786126	0.99[ASN][1000 genomes]
rs12334986	0.98[ASN][1000 genomes]
rs12546934	0.99[ASN][1000 genomes]
rs12675156	0.87[ASN][1000 genomes]
rs12675404	0.87[ASN][1000 genomes]
rs12676361	0.87[ASN][1000 genomes]
rs12677434	0.89[ASN][1000 genomes]
rs12678479	0.87[ASN][1000 genomes]
rs12680771	0.87[ASN][1000 genomes]
rs12680958	0.87[ASN][1000 genomes]
rs12681673	0.87[ASN][1000 genomes]
rs12681867	0.90[ASN][1000 genomes]
rs12682564	0.87[ASN][1000 genomes]
rs13250860	0.91[ASN][1000 genomes]
rs13250922	0.96[ASN][1000 genomes]
rs13252580	0.85[ASN][1000 genomes]
rs13254066	0.95[ASN][1000 genomes]
rs13256408	0.87[ASN][1000 genomes]
rs13257067	0.94[ASN][1000 genomes]
rs13257291	0.87[ASN][1000 genomes]
rs13257720	0.99[ASN][1000 genomes]
rs13258269	0.96[ASN][1000 genomes]
rs13261243	0.90[ASN][1000 genomes]
rs13264242	0.87[ASN][1000 genomes]
rs13265029	0.95[ASN][1000 genomes]
rs13266326	0.90[ASN][1000 genomes]
rs13267846	0.87[ASN][1000 genomes]
rs13268128	0.99[ASN][1000 genomes]
rs13268907	0.86[ASN][1000 genomes]
rs13268938	0.90[ASN][1000 genomes]
rs13269881	0.86[ASN][1000 genomes]
rs13271572	0.94[ASN][1000 genomes]
rs13272178	0.86[ASN][1000 genomes]
rs13272467	0.91[ASN][1000 genomes]
rs13274160	0.96[ASN][1000 genomes]
rs13275045	0.97[ASN][1000 genomes]
rs13275235	0.96[ASN][1000 genomes]
rs13280391	0.99[ASN][1000 genomes]
rs13280413	0.87[ASN][1000 genomes]
rs1517304	0.87[ASN][1000 genomes]
rs1517305	0.86[ASN][1000 genomes]
rs16916810	0.99[ASN][1000 genomes]
rs16916843	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1914370	0.86[ASN][1000 genomes]
rs2395825	0.91[ASN][1000 genomes]
rs2395857	0.87[ASN][1000 genomes]
rs28671127	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3763547	0.85[ASN][1000 genomes]
rs3824266	0.91[ASN][1000 genomes]
rs4259408	0.91[ASN][1000 genomes]
rs4291261	0.99[ASN][1000 genomes]
rs4294173	0.91[ASN][1000 genomes]
rs4313145	0.91[ASN][1000 genomes]
rs4324911	0.91[ASN][1000 genomes]
rs4330683	0.91[ASN][1000 genomes]
rs4352840	0.99[ASN][1000 genomes]
rs4361755	0.90[ASN][1000 genomes]
rs4395889	0.96[ASN][1000 genomes]
rs4401852	0.94[ASN][1000 genomes]
rs4425747	0.96[ASN][1000 genomes]
rs4442135	0.96[ASN][1000 genomes]
rs4487755	0.99[ASN][1000 genomes]
rs4570148	0.91[ASN][1000 genomes]
rs4584139	0.91[ASN][1000 genomes]
rs4587320	0.91[ASN][1000 genomes]
rs4596648	0.96[ASN][1000 genomes]
rs4612332	0.96[ASN][1000 genomes]
rs4615560	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618684	0.91[ASN][1000 genomes]
rs4634632	0.87[ASN][1000 genomes]
rs4642637	0.99[ASN][1000 genomes]
rs4873206	0.91[ASN][1000 genomes]
rs4873207	0.87[ASN][1000 genomes]
rs4873603	0.99[ASN][1000 genomes]
rs4873604	0.99[ASN][1000 genomes]
rs4873606	0.98[ASN][1000 genomes]
rs4873608	0.96[ASN][1000 genomes]
rs4873610	0.93[ASN][1000 genomes]
rs4873613	0.91[ASN][1000 genomes]
rs4873616	0.86[ASN][1000 genomes]
rs4873617	0.87[ASN][1000 genomes]
rs5002416	0.89[ASN][1000 genomes]
rs5003717	0.94[ASN][1000 genomes]
rs6983163	0.90[ASN][1000 genomes]
rs6986984	0.91[ASN][1000 genomes]
rs6990552	0.88[ASN][1000 genomes]
rs6996898	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999031	0.99[ASN][1000 genomes]
rs6999321	0.94[ASN][1000 genomes]
rs7008057	0.91[ASN][1000 genomes]
rs7011225	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012360	0.99[ASN][1000 genomes]
rs7013587	0.87[ASN][1000 genomes]
rs7014075	0.87[ASN][1000 genomes]
rs7017450	0.87[ASN][1000 genomes]
rs718250	0.99[ASN][1000 genomes]
rs7460311	0.86[ASN][1000 genomes]
rs7463120	0.91[ASN][1000 genomes]
rs7464192	0.87[ASN][1000 genomes]
rs7465225	0.86[ASN][1000 genomes]
rs753540	0.91[ASN][1000 genomes]
rs756484	0.99[ASN][1000 genomes]
rs7818832	0.97[ASN][1000 genomes]
rs7829408	0.87[ASN][1000 genomes]
rs7833777	0.90[ASN][1000 genomes]
rs7838816	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs882492	0.87[ASN][1000 genomes]
rs884580	0.87[ASN][1000 genomes]
rs925761	0.90[ASN][1000 genomes]
rs925763	0.90[ASN][1000 genomes]
rs9298463	0.90[ASN][1000 genomes]
rs9298464	0.91[ASN][1000 genomes]
rs9298465	0.91[ASN][1000 genomes]
rs9298466	0.91[ASN][1000 genomes]
rs9298467	0.87[ASN][1000 genomes]
rs950687	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643466	0.90[ASN][1000 genomes]
rs9643790	0.90[ASN][1000 genomes]
rs9643791	0.90[ASN][1000 genomes]
rs9643792	0.90[ASN][1000 genomes]
rs9643793	0.91[ASN][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	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
3	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
4	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
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1023825	chr8:52668824-52716137	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13340640	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52705800-52716000	Weak transcription	Right Ventricle	heart
2	chr8:52708600-52721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:52713200-52714000	Weak transcription	Left Ventricle	heart

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