Variant report

Variant	rs945294
Chromosome Location	chr10:26697294-26697295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11595895	0.83[EUR][1000 genomes]
rs12770943	0.96[CEU][hapmap]
rs12783726	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12783831	0.89[EUR][1000 genomes]
rs1335540	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1335551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1335552	1.00[CEU][hapmap];0.88[CHD][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs1889686	0.96[CEU][hapmap]
rs1889692	0.90[EUR][1000 genomes]
rs1889693	0.90[EUR][1000 genomes]
rs2184571	0.90[EUR][1000 genomes]
rs2992261	0.96[CEU][hapmap]
rs2992262	0.96[CEU][hapmap]
rs2992263	0.96[CEU][hapmap]
rs2992325	0.95[EUR][1000 genomes]
rs2992332	0.91[EUR][1000 genomes]
rs2992333	0.96[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs2992334	0.84[EUR][1000 genomes]
rs2992335	0.87[EUR][1000 genomes]
rs3006807	0.91[EUR][1000 genomes]
rs3006808	0.91[EUR][1000 genomes]
rs3006810	0.91[EUR][1000 genomes]
rs3006811	0.91[EUR][1000 genomes]
rs3006813	0.91[EUR][1000 genomes]
rs3006815	0.90[EUR][1000 genomes]
rs3006816	0.91[EUR][1000 genomes]
rs3006818	0.90[EUR][1000 genomes]
rs3006819	0.89[EUR][1000 genomes]
rs3006821	0.91[EUR][1000 genomes]
rs3006835	0.96[CEU][hapmap]
rs35055608	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36120850	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4749125	0.86[EUR][1000 genomes]
rs4749126	0.87[EUR][1000 genomes]
rs7098710	0.84[EUR][1000 genomes]
rs7901056	0.90[EUR][1000 genomes]
rs9284109	0.90[EUR][1000 genomes]
rs9299819	0.90[EUR][1000 genomes]
rs9299820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs9299821	0.91[EUR][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	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1043832	chr10:26669040-26809400	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv6121	chr10:26683702-26697307	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs945294	APBB1IP	cis	Thyroid	GTEx
rs945294	APBB1IP	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26696400-26699600	Enhancers	GM12878-XiMat	blood
2	chr10:26696600-26697400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr10:26696800-26698400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:26697000-26697600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:26697000-26699600	Enhancers	A549	lung

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