Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10444499	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735108	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774940	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068589	0.83[EUR][1000 genomes]
rs1400589	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1400593	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517196	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517201	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517204	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1850403	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2650169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570668	0.83[EUR][1000 genomes]
rs4767580	0.84[EUR][1000 genomes]
rs4767581	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767583	0.83[EUR][1000 genomes]
rs6490130	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490131	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6490137	0.84[EUR][1000 genomes]
rs6490139	0.84[EUR][1000 genomes]
rs7305557	0.83[EUR][1000 genomes]
rs7956575	0.88[EUR][1000 genomes]
rs7957425	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs816195	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860113	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs708861	FBXW8	cis	brain	BrainEAC
rs708861	NIP30	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117975000-118018200	Weak transcription	HUVEC	blood vessel
2	chr12:118005400-118018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:118009600-118018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:118010400-118017400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118014600-118018400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118016600-118016800	Enhancers	A549	lung

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