Variant report

Variant	rs2284293
Chromosome Location	chr2:234967114-234967115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10168712	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10171587	0.95[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10172000	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10205160	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11563194	0.98[ASN][1000 genomes]
rs11563195	0.96[ASN][1000 genomes]
rs13396164	0.98[ASN][1000 genomes]
rs1354895	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1395841	1.00[ASN][1000 genomes]
rs17865706	0.98[ASN][1000 genomes]
rs17866614	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1911592	0.95[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1911593	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1911594	0.95[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2267900	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2267901	0.84[EUR][1000 genomes]
rs2267902	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2267903	0.89[GIH][hapmap];0.86[MEX][hapmap]
rs2267904	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3771331	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4233639	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4664007	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs596463	0.81[GIH][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs620654	0.81[GIH][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs622060	0.80[AMR][1000 genomes]
rs6715369	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739495	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585488	0.86[MEX][hapmap]
rs7593927	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7603271	0.89[GIH][hapmap];0.91[MEX][hapmap]
rs7608191	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9636246	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2284293	TRIP12	cis	cerebellum	SCAN
rs2284293	COL6A3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234965600-234971200	Genic enhancers	Liver	Liver
2	chr2:234966200-234970800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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