Variant report

Variant	rs12101261
Chromosome Location	chr14:81451229-81451230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10145099	0.96[ASN][1000 genomes]
rs1023586	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035144	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11159479	0.94[ASN][1000 genomes]
rs11850285	0.81[AFR][1000 genomes]
rs12101255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111346	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179252	0.81[ASN][1000 genomes]
rs179255	0.82[ASN][1000 genomes]
rs179262	0.81[ASN][1000 genomes]
rs179263	0.81[ASN][1000 genomes]
rs2160215	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2215981	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2268459	0.94[ASN][1000 genomes]
rs2284725	0.83[AFR][1000 genomes]
rs2284726	0.96[ASN][1000 genomes]
rs2284728	0.83[AFR][1000 genomes]
rs2300516	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs2300520	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2371462	0.89[CHD][hapmap]
rs2371463	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28414437	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783947	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3783948	0.96[ASN][1000 genomes]
rs3783949	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3783950	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4411444	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4903961	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56389234	0.94[ASN][1000 genomes]
rs59627467	0.83[AFR][1000 genomes]
rs6574617	0.94[ASN][1000 genomes]
rs724170	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8003061	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003515	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Graves' disease	21841780	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12101261	DIO2	cis	parietal	SCAN
rs12101261	GZMH	trans	cerebellum	SCAN
rs12101261	C14orf145	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81448000-81453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:81448000-81453400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:81449200-81452600	Enhancers	Thymus	Thymus
4	chr14:81450800-81454400	Enhancers	Fetal Thymus	thymus
5	chr14:81451000-81455400	Enhancers	Dnd41	blood

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