Variant report

Variant	rs7593932
Chromosome Location	chr2:37567226-37567227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37553880..37556117-chr2:37565295..37568146,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10177970	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs10178975	0.80[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs10204434	0.86[CHD][hapmap]
rs10206380	0.90[JPT][hapmap]
rs10460527	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs11124570	0.83[JPT][hapmap]
rs1160516	0.84[JPT][hapmap]
rs11887618	0.84[JPT][hapmap]
rs12469082	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs12712530	0.80[CEU][hapmap]
rs13027919	0.95[ASN][1000 genomes]
rs13390055	0.84[JPT][hapmap]
rs13421912	0.84[JPT][hapmap]
rs13429526	0.90[JPT][hapmap]
rs17020358	0.90[JPT][hapmap]
rs1861444	0.84[TSI][hapmap]
rs2041837	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs2041838	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2041840	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs2075216	0.84[JPT][hapmap]
rs2160392	0.82[EUR][1000 genomes]
rs2160393	0.81[EUR][1000 genomes]
rs2216114	0.84[JPT][hapmap]
rs2241163	0.86[ASN][1000 genomes]
rs2255991	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs2287091	0.86[CHD][hapmap]
rs2287092	0.84[JPT][hapmap]
rs2300886	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs2300887	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs2300888	0.81[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs2300891	0.84[JPT][hapmap]
rs2300894	0.84[CHD][hapmap]
rs2302649	0.86[CHD][hapmap]
rs2372888	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs2430494	0.84[CEU][hapmap]
rs2540973	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs2540977	0.80[CEU][hapmap]
rs28384455	0.87[ASN][1000 genomes]
rs3213746	0.84[JPT][hapmap]
rs3755191	0.87[ASN][1000 genomes]
rs3755192	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3770749	0.90[CHB][hapmap]
rs3770761	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs3815555	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs3821144	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs4384764	0.81[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap]
rs4610034	0.85[ASN][1000 genomes]
rs4629138	0.84[CHD][hapmap]
rs4670678	0.80[CEU][hapmap]
rs4670682	0.84[JPT][hapmap]
rs4670684	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs4670685	0.95[CHD][hapmap]
rs4670687	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4670691	0.85[EUR][1000 genomes]
rs60981509	0.82[ASN][1000 genomes]
rs6544067	0.84[CEU][hapmap]
rs6730503	0.80[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs6742641	0.81[EUR][1000 genomes]
rs8243	0.80[CEU][hapmap]
rs9309003	0.84[JPT][hapmap]
rs952711	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs952712	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7593932	QPCT	cis	parietal	SCAN
rs7593932	PRKD3	cis	multi-tissue	Pritchard
rs7593932	PRKD3	cis	parietal	SCAN
rs7593932	CEBPZ	cis	lymphoblastoid	seeQTL
rs7593932	PRKD3	Cis_1M	lymphoblastoid	RTeQTL
rs7593932	QPCT	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:37565600-37569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:37565600-37570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:37566200-37569400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:37566400-37569000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:37566400-37569800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:37566400-37570000	Weak transcription	Primary monocytes fromperipheralblood	blood

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