Variant report

Variant	rs10489849
Chromosome Location	chr1:159196765-159196766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159190196..159193032-chr1:159194970..159197300,2	K562	blood:
2	chr1:159195936..159198032-chr1:159199645..159201291,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11265150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265152	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12063098	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12069029	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12084987	0.80[AFR][1000 genomes]
rs12095174	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407488	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12410844	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3027008	0.91[ASN][1000 genomes]
rs3027012	1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs3027034	0.91[ASN][1000 genomes]
rs3027045	0.88[ASW][hapmap];0.96[YRI][hapmap]
rs3027076	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029634	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34217855	0.92[ASN][1000 genomes]
rs34683667	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35113846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35333710	0.91[ASN][1000 genomes]
rs35405068	1.00[ASN][1000 genomes]
rs35610895	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35921532	0.84[AFR][1000 genomes]
rs6676002	1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs6687584	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687589	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533790	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7533795	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7549785	1.00[CHD][hapmap];0.82[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872487	chr1:159196765-159342439	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Select biomarker traits	17903293	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10489849	VSIG8	cis	parietal	SCAN
rs10489849	DUSP23	cis	parietal	SCAN
rs10489849	RAB25	cis	parietal	SCAN
rs10489849	C1orf85	cis	parietal	SCAN
rs10489849	C1orf189	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159193000-159199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:159196600-159196800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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