Variant report

Variant	rs7493545
Chromosome Location	chr14:70951234-70951235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr14:70951204-70951416	GM12878	blood:	n/a	n/a
2	SPI1	chr14:70951217-70951430	GM12891	blood:	n/a	n/a
3	SPI1	chr14:70951204-70951464	HL-60	blood:	n/a	n/a
4	SPI1	chr14:70951167-70951430	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ADAM20P1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1060681	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs11624424	0.81[AMR][1000 genomes]
rs11626228	0.84[EUR][1000 genomes]
rs11626414	0.83[EUR][1000 genomes]
rs11628785	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12880777	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12884918	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12893988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17475516	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs17476399	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17567627	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1953800	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2022624	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2877661	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34273029	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34866539	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3764183	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4899359	0.85[EUR][1000 genomes]
rs6573971	0.88[EUR][1000 genomes]
rs8016418	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs8019852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv565042	chr14:70951234-71011734	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7493545	PAPLN	cis	parietal	SCAN
rs7493545	SMOC1	cis	cerebellum	SCAN
rs7493545	ADAM20	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
2	chr14:70948000-70955000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:70949000-70956000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:70949200-70956400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:70949400-70956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:70951200-70956200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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