Variant report

Variant	rs6470740
Chromosome Location	chr8:130571375-130571376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10505545	0.92[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs4733711	0.86[GIH][hapmap]
rs6987588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817503	0.84[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs7843207	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297794	0.87[EUR][1000 genomes]
rs9649961	0.85[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6470740	EFR3A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130567200-130572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:130567200-130572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:130568600-130572600	Transcr. at gene 5' and 3'	K562	blood
4	chr8:130568800-130587000	Weak transcription	Thymus	Thymus
5	chr8:130569600-130572200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130571200-130572000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:130571200-130575600	Genic enhancers	Dnd41	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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