Variant report

Variant	rs13263767
Chromosome Location	chr8:52671611-52671612
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13250133	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13253956	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13261618	0.81[EUR][1000 genomes]
rs13262316	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13263610	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13264394	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13267912	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13270817	0.87[AMR][1000 genomes]
rs13272813	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13274476	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13277070	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13279973	0.87[AMR][1000 genomes]
rs17196182	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17196300	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17196343	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17210431	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17210466	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17282351	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34011046	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34070508	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34152859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34424720	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34461077	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34724314	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34837796	0.87[AMR][1000 genomes]
rs34934450	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34949360	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35025549	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35038146	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35098517	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35254751	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35314611	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35448466	0.87[AMR][1000 genomes]
rs35822658	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35918180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35933421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36100144	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513545	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71513547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71513550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71513551	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71513553	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71513558	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513559	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71513560	0.87[AMR][1000 genomes]
rs71513562	0.87[AMR][1000 genomes]
rs71513563	0.87[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
rs13263767	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 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	chr8:52671400-52671800	Enhancers	Right Atrium	heart
4	chr8:52671400-52672000	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr8:52671600-52672200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:52671600-52673200	Enhancers	Cortex derived primary cultured neurospheres	brain

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