Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10132760	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10139221	0.82[EUR][1000 genomes]
rs10151114	0.90[CEU][hapmap]
rs1018344	0.95[CEU][hapmap]
rs11625038	0.92[JPT][hapmap]
rs12589185	0.90[CEU][hapmap]
rs12589962	0.90[CEU][hapmap]
rs12894518	0.90[CEU][hapmap]
rs17182761	0.90[CEU][hapmap]
rs1997531	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1997532	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1997533	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28575550	0.95[CEU][hapmap]
rs4628878	0.89[CEU][hapmap]
rs60055660	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143695	0.89[CEU][hapmap]
rs7147972	0.92[JPT][hapmap]
rs7150049	1.00[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs8003447	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs8006524	0.82[EUR][1000 genomes]
rs8011341	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011509	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8011979	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8013476	0.95[CEU][hapmap]
rs8018604	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8019537	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs8022088	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8022425	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1018345	JPH4	cis	parietal	SCAN
rs1018345	DAD1	cis	cerebellum	SCAN
rs1018345	PABPN1	cis	cerebellum	SCAN
rs1018345	SLC39A2	cis	cerebellum	SCAN
rs1018345	THTPA	cis	cerebellum	SCAN
rs1018345	EDDM3B	cis	parietal	SCAN
rs1018345	CBLN3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22188400-22209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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