Variant report

Variant	rs1398442
Chromosome Location	chr12:85809907-85809908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10746344	0.88[ASN][1000 genomes]
rs10746346	0.98[ASN][1000 genomes]
rs10746347	0.89[ASN][1000 genomes]
rs10779161	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10779164	0.92[ASN][1000 genomes]
rs10779167	0.91[ASN][1000 genomes]
rs10779168	0.91[ASN][1000 genomes]
rs10779169	0.90[ASN][1000 genomes]
rs10779170	0.91[ASN][1000 genomes]
rs10779173	0.89[ASN][1000 genomes]
rs10779180	0.83[ASN][1000 genomes]
rs10779181	0.82[ASN][1000 genomes]
rs10862979	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10862990	0.90[ASN][1000 genomes]
rs10862991	0.89[ASN][1000 genomes]
rs10862993	0.91[ASN][1000 genomes]
rs10862999	0.91[ASN][1000 genomes]
rs10863000	0.90[ASN][1000 genomes]
rs10863007	0.89[ASN][1000 genomes]
rs10863008	0.89[ASN][1000 genomes]
rs11116807	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11116832	0.97[ASN][1000 genomes]
rs11116833	0.97[ASN][1000 genomes]
rs11116930	0.87[ASN][1000 genomes]
rs11116934	0.83[ASN][1000 genomes]
rs11116935	0.83[ASN][1000 genomes]
rs11831266	0.89[ASN][1000 genomes]
rs12578708	0.84[ASN][1000 genomes]
rs1398440	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1870933	0.88[ASN][1000 genomes]
rs1870935	0.89[ASN][1000 genomes]
rs2199511	0.82[ASN][1000 genomes]
rs2199512	0.82[ASN][1000 genomes]
rs2199513	0.84[ASN][1000 genomes]
rs2199516	0.89[ASN][1000 genomes]
rs2199517	0.89[ASN][1000 genomes]
rs2199518	0.89[ASN][1000 genomes]
rs2219711	0.82[ASN][1000 genomes]
rs2405248	0.88[ASN][1000 genomes]
rs2405254	0.84[ASN][1000 genomes]
rs4761063	0.98[ASN][1000 genomes]
rs4897817	0.83[ASN][1000 genomes]
rs4897825	0.82[ASN][1000 genomes]
rs6419420	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6419421	0.91[ASN][1000 genomes]
rs6539899	0.91[ASN][1000 genomes]
rs6539901	0.83[ASN][1000 genomes]
rs6539902	0.82[ASN][1000 genomes]
rs7133064	0.82[ASN][1000 genomes]
rs7133855	0.90[ASN][1000 genomes]
rs7134486	0.91[ASN][1000 genomes]
rs7136236	0.87[ASN][1000 genomes]
rs7295445	0.82[ASN][1000 genomes]
rs7297262	0.94[ASN][1000 genomes]
rs7302629	0.82[ASN][1000 genomes]
rs7303316	0.91[ASN][1000 genomes]
rs7316167	0.84[ASN][1000 genomes]
rs7485084	0.91[ASN][1000 genomes]
rs7485590	0.91[ASN][1000 genomes]
rs7486767	0.91[ASN][1000 genomes]
rs7487599	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7957797	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7973323	0.91[ASN][1000 genomes]
rs7977259	0.91[ASN][1000 genomes]
rs898986	0.87[ASN][1000 genomes]
rs9788015	0.89[ASN][1000 genomes]
rs9788074	0.89[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	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1398442	NTS	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85801000-85819800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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