Variant report

Variant	rs6473636
Chromosome Location	chr8:52567937-52567938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10096943	0.80[CEU][hapmap]
rs10105608	0.97[ASN][1000 genomes]
rs10106672	0.81[ASN][1000 genomes]
rs10110304	1.00[CEU][hapmap]
rs10504128	0.80[CEU][hapmap]
rs1059041	0.80[CEU][hapmap]
rs10958299	0.80[CEU][hapmap]
rs11775601	0.80[CEU][hapmap]
rs11784921	0.86[CEU][hapmap]
rs13250860	0.80[CEU][hapmap]
rs13257067	0.80[CEU][hapmap]
rs13261243	0.80[CEU][hapmap]
rs13274229	0.85[ASN][1000 genomes]
rs13275235	0.80[CEU][hapmap]
rs16916654	0.91[ASN][1000 genomes]
rs16916660	0.94[ASN][1000 genomes]
rs16916675	0.94[ASN][1000 genomes]
rs28478150	0.86[ASN][1000 genomes]
rs3824266	0.80[CEU][hapmap]
rs4259408	0.80[CEU][hapmap]
rs4294173	0.80[CEU][hapmap]
rs4324911	0.80[CEU][hapmap]
rs4330683	0.80[CEU][hapmap]
rs4361755	0.80[CEU][hapmap]
rs4541903	0.81[ASN][1000 genomes]
rs4570148	0.80[CEU][hapmap]
rs4584139	0.80[CEU][hapmap]
rs4587320	0.80[CEU][hapmap]
rs4596648	0.80[CEU][hapmap]
rs4612332	0.80[CEU][hapmap]
rs4618684	0.80[CEU][hapmap]
rs4873569	0.88[ASN][1000 genomes]
rs4873608	0.80[CEU][hapmap]
rs5002416	0.80[CEU][hapmap]
rs56037615	0.88[ASN][1000 genomes]
rs6473632	0.91[ASN][1000 genomes]
rs6986665	0.89[ASN][1000 genomes]
rs7008275	0.88[ASN][1000 genomes]
rs7017902	0.85[ASN][1000 genomes]
rs73678944	0.80[ASN][1000 genomes]
rs7463120	0.80[CEU][hapmap]
rs753540	0.80[CEU][hapmap]
rs7821482	0.80[ASN][1000 genomes]
rs7827024	0.94[ASN][1000 genomes]
rs7835028	0.94[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7837379	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7839588	0.86[ASN][1000 genomes]
rs9298459	0.88[ASN][1000 genomes]
rs9298463	0.80[CEU][hapmap]
rs9643792	0.80[CEU][hapmap]

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
rs6473636	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52559600-52570400	Weak transcription	Left Ventricle	heart
2	chr8:52562800-52568600	Enhancers	Fetal Heart	heart
3	chr8:52563400-52573400	Weak transcription	Right Atrium	heart
4	chr8:52566400-52580800	Weak transcription	Aorta	Aorta
5	chr8:52566800-52568200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:52566800-52575200	Weak transcription	Fetal Lung	lung
7	chr8:52566800-52577400	Weak transcription	Psoas Muscle	Psoas
8	chr8:52567800-52568000	Enhancers	Fetal Brain Male	brain
9	chr8:52567800-52568000	Enhancers	Stomach Smooth Muscle	stomach

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