Variant report

Variant	rs7143550
Chromosome Location	chr14:63206951-63206952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10047855	0.81[CEU][hapmap]
rs10047858	0.81[CEU][hapmap]
rs10133621	0.89[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.80[AFR][1000 genomes]
rs10141683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1041644	0.81[MEX][hapmap]
rs10483754	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs11158448	0.86[MEX][hapmap]
rs11158449	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs11627747	0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs11627838	0.91[ASN][1000 genomes]
rs12587728	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12885827	0.87[ASN][1000 genomes]
rs4902181	0.92[ASN][1000 genomes]
rs61994833	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7141875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142035	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7151907	0.81[ASW][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8017931	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8022157	0.89[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs8022524	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv527675	chr14:63168547-63211280	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7143550	PRKCH	cis	cerebellum	SCAN
rs7143550	TRMT5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63202800-63212000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63206200-63207200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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