Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10431603	0.85[JPT][hapmap]
rs10506205	0.85[JPT][hapmap]
rs10880088	1.00[ASW][hapmap]
rs11180961	1.00[ASW][hapmap]
rs11180979	1.00[ASW][hapmap]
rs11180981	1.00[ASW][hapmap]
rs11180989	1.00[ASW][hapmap]
rs157972	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs158190	0.85[JPT][hapmap]
rs17579291	1.00[ASW][hapmap]
rs285563	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285564	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285565	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285581	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs285586	1.00[ASW][hapmap]
rs286978	0.88[ASN][1000 genomes]
rs286979	0.88[ASN][1000 genomes]
rs286991	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs286997	0.90[ASN][1000 genomes]
rs287000	0.90[ASN][1000 genomes]
rs287030	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287042	0.88[ASN][1000 genomes]
rs4514489	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725527	1.00[ASW][hapmap]
rs7963993	0.90[ASN][1000 genomes]

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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832385	chr12:41959363-41966261	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285569	PDZRN4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41944600-41966200	Weak transcription	Ovary	ovary
2	chr12:41957400-41966200	Weak transcription	Aorta	Aorta
3	chr12:41957800-41965000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:41958000-41966800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:41959400-41970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:41959800-41961600	Enhancers	Brain Germinal Matrix	brain

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