Variant report

Variant	rs474246
Chromosome Location	chr17:67369855-67369856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1642220	0.82[CHB][hapmap]
rs1662694	0.86[ASN][1000 genomes]
rs182834	0.86[ASN][1000 genomes]
rs2430763	0.86[ASN][1000 genomes]
rs2430764	0.91[ASN][1000 genomes]
rs2592208	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2592209	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs333910	0.86[ASN][1000 genomes]
rs333911	0.86[ASN][1000 genomes]
rs333912	0.87[ASN][1000 genomes]
rs333913	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs333914	0.86[ASN][1000 genomes]
rs333915	0.86[ASN][1000 genomes]
rs333916	0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs333917	0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs333918	0.86[ASN][1000 genomes]
rs333919	0.84[ASN][1000 genomes]
rs475278	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs489695	0.86[ASN][1000 genomes]
rs491516	0.86[ASN][1000 genomes]
rs4968791	0.83[ASN][1000 genomes]
rs497012	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs536108	0.95[ASN][1000 genomes]
rs550879	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569063	0.86[ASN][1000 genomes]
rs575988	0.83[ASN][1000 genomes]
rs58235597	0.89[ASN][1000 genomes]
rs6501323	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs707246	0.85[ASN][1000 genomes]
rs707247	0.86[JPT][hapmap]
rs817103	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817543	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs817545	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs817546	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs817556	0.85[JPT][hapmap]
rs817565	0.86[JPT][hapmap]
rs817566	0.86[JPT][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	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs474246	TEX2	cis	parietal	SCAN
rs474246	AXIN2	cis	cerebellum	SCAN
rs474246	AMZ2P1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67369400-67371600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr17:67369800-67372000	Enhancers	Monocytes-CD14+_RO01746	blood

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