Variant report

Variant	rs4873599
Chromosome Location	chr8:52679697-52679698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10104555	0.94[EUR][1000 genomes]
rs10106132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106734	0.81[EUR][1000 genomes]
rs10111727	0.94[EUR][1000 genomes]
rs11984688	0.94[EUR][1000 genomes]
rs11990932	0.81[EUR][1000 genomes]
rs11992330	0.81[EUR][1000 genomes]
rs16916958	0.94[EUR][1000 genomes]
rs1996261	0.88[EUR][1000 genomes]
rs28829739	0.88[EUR][1000 genomes]
rs4242473	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4242477	1.00[EUR][1000 genomes]
rs4242478	0.87[EUR][1000 genomes]
rs4257997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4305894	0.87[EUR][1000 genomes]
rs4418330	0.87[EUR][1000 genomes]
rs4500071	0.87[EUR][1000 genomes]
rs4518654	0.87[EUR][1000 genomes]
rs4873600	0.87[EUR][1000 genomes]
rs4873601	0.87[EUR][1000 genomes]
rs4873605	0.87[EUR][1000 genomes]
rs4873612	0.81[EUR][1000 genomes]
rs55730191	0.94[EUR][1000 genomes]
rs55791360	0.81[EUR][1000 genomes]
rs56034922	0.94[EUR][1000 genomes]
rs56105709	0.87[EUR][1000 genomes]
rs56109937	0.81[EUR][1000 genomes]
rs56150121	0.87[EUR][1000 genomes]
rs6997032	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6997972	0.81[EUR][1000 genomes]
rs7000570	0.87[EUR][1000 genomes]
rs73583635	0.94[EUR][1000 genomes]
rs73583640	0.94[EUR][1000 genomes]
rs73588487	0.94[EUR][1000 genomes]
rs73592250	0.94[EUR][1000 genomes]
rs7820936	0.87[EUR][1000 genomes]
rs7845506	0.94[EUR][1000 genomes]
rs9643787	0.81[EUR][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
rs4873599	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	chr8:52671800-52681800	Weak transcription	Right Atrium	heart
3	chr8:52676200-52682600	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links