Variant report

Variant	rs1488817
Chromosome Location	chr12:10204371-10204372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10505748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505753	0.86[GIH][hapmap]
rs1488816	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17734799	0.93[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807434	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59462804	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1488817	UPF3B	trans	parietal	SCAN
rs1488817	LOC653113	cis	cerebellum	SCAN
rs1488817	NCAPD2	cis	parietal	SCAN
rs1488817	RIMKLB	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10203800-10204600	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:10203800-10206200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10204000-10208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:10204200-10204400	Enhancers	GM12878-XiMat	blood
5	chr12:10204200-10204600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:10204200-10204600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:10204200-10205400	Enhancers	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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