Variant report

Variant	rs574726
Chromosome Location	chr1:57883320-57883321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10493221	0.89[JPT][hapmap]
rs1077424	1.00[JPT][hapmap]
rs10889036	1.00[JPT][hapmap]
rs10889037	1.00[JPT][hapmap]
rs10889038	0.89[JPT][hapmap]
rs10889039	0.89[JPT][hapmap]
rs10889041	1.00[JPT][hapmap]
rs10889042	0.89[JPT][hapmap]
rs11207007	1.00[JPT][hapmap]
rs11207012	1.00[JPT][hapmap]
rs11207016	1.00[JPT][hapmap]
rs11207026	0.89[JPT][hapmap]
rs11207027	0.86[JPT][hapmap]
rs11590708	1.00[JPT][hapmap]
rs11799925	1.00[JPT][hapmap]
rs12119147	1.00[JPT][hapmap]
rs12119210	1.00[JPT][hapmap]
rs12126723	1.00[JPT][hapmap]
rs12139429	1.00[JPT][hapmap]
rs12240237	1.00[JPT][hapmap]
rs12565446	1.00[JPT][hapmap]
rs12565636	0.89[JPT][hapmap]
rs12741210	1.00[JPT][hapmap]
rs1424462	1.00[JPT][hapmap]
rs1424463	1.00[JPT][hapmap]
rs1424464	1.00[JPT][hapmap]
rs1424465	1.00[JPT][hapmap]
rs1424466	1.00[JPT][hapmap]
rs1424467	1.00[JPT][hapmap]
rs1424469	1.00[JPT][hapmap]
rs1504594	1.00[JPT][hapmap]
rs166514	1.00[JPT][hapmap]
rs17115750	0.89[JPT][hapmap]
rs17423255	1.00[JPT][hapmap]
rs17425189	0.93[CHD][hapmap]
rs17458730	0.89[JPT][hapmap]
rs1778032	0.89[JPT][hapmap]
rs1834151	1.00[JPT][hapmap]
rs1862925	1.00[JPT][hapmap]
rs2405697	0.89[JPT][hapmap]
rs267651	1.00[JPT][hapmap]
rs269038	0.89[JPT][hapmap]
rs269042	0.81[CHB][hapmap]
rs269044	0.89[JPT][hapmap]
rs269045	0.89[JPT][hapmap]
rs269048	0.89[JPT][hapmap]
rs269049	0.89[JPT][hapmap]
rs269050	0.89[JPT][hapmap]
rs269057	0.88[JPT][hapmap]
rs269062	0.96[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3738553	0.89[JPT][hapmap]
rs3850549	0.89[JPT][hapmap]
rs3850550	0.89[JPT][hapmap]
rs3850552	0.89[JPT][hapmap]
rs3861833	0.89[JPT][hapmap]
rs3861834	0.89[JPT][hapmap]
rs3896279	0.89[JPT][hapmap]
rs499339	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532926	0.89[JPT][hapmap]
rs540431	0.89[JPT][hapmap]
rs563099	0.89[JPT][hapmap]
rs563270	0.89[JPT][hapmap]
rs564951	1.00[JPT][hapmap]
rs565032	1.00[JPT][hapmap]
rs566847	0.89[JPT][hapmap]
rs567773	0.89[JPT][hapmap]
rs61769757	0.82[ASN][1000 genomes]
rs6587767	1.00[JPT][hapmap]
rs6687842	1.00[JPT][hapmap]
rs6687934	1.00[JPT][hapmap]
rs90940	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs574726	DAB1	cis	cerebellum	SCAN
rs574726	PCSK9	cis	parietal	SCAN
rs574726	DIO1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57871000-57887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57876200-57883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:57880000-57884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57881200-57883400	Weak transcription	Fetal Brain Male	brain
5	chr1:57881800-57885000	Weak transcription	Fetal Brain Female	brain

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