Variant report

Variant	rs11786167
Chromosome Location	chr8:52675657-52675658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10504130	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10958300	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10958301	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10958305	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs11775587	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs11775611	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs11777016	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11777714	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11778849	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11780891	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781330	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11785467	1.00[ASN][1000 genomes]
rs11785805	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12675786	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12675907	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12676345	0.85[ASN][1000 genomes]
rs12678639	0.81[AMR][1000 genomes]
rs12678646	0.82[ASN][1000 genomes]
rs12678680	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679983	0.81[ASN][1000 genomes]
rs12680128	0.81[ASN][1000 genomes]
rs13274159	1.00[ASN][1000 genomes]
rs13275967	1.00[ASN][1000 genomes]
rs13276400	0.85[ASN][1000 genomes]
rs16916820	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16916856	1.00[CEU][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16916865	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16916906	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16916961	0.81[AMR][1000 genomes]
rs17284746	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2037138	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2037139	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2069119	0.85[ASN][1000 genomes]
rs2176120	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34004633	1.00[ASN][1000 genomes]
rs34073804	0.83[ASN][1000 genomes]
rs34213209	0.85[ASN][1000 genomes]
rs34319820	0.83[ASN][1000 genomes]
rs34780436	1.00[ASN][1000 genomes]
rs34973406	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs35509250	0.85[ASN][1000 genomes]
rs35603537	0.85[ASN][1000 genomes]
rs41453644	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4292674	0.81[ASN][1000 genomes]
rs4321994	0.83[ASN][1000 genomes]
rs4418329	0.84[ASN][1000 genomes]
rs4436115	1.00[ASN][1000 genomes]
rs4442134	0.84[ASN][1000 genomes]
rs4534123	0.81[ASN][1000 genomes]
rs4573262	1.00[ASN][1000 genomes]
rs4626585	0.81[ASN][1000 genomes]
rs57212480	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58561048	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58583070	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60153173	0.83[ASN][1000 genomes]
rs60304457	0.81[AMR][1000 genomes]
rs61326367	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473653	0.84[ASN][1000 genomes]
rs6768	0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs6994203	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs71513549	0.81[ASN][1000 genomes]
rs71513552	0.83[ASN][1000 genomes]
rs763550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9792352	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv890898	chr8:52579964-52680933	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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
rs11786167	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52661400-52683200	Weak transcription	Left Ventricle	heart
2	chr8:52666400-52675800	Weak transcription	Right Ventricle	heart
3	chr8:52671800-52681800	Weak transcription	Right Atrium	heart

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