Variant report

Variant	rs12680859
Chromosome Location	chr8:121118968-121118969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10096137	0.81[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs10096311	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10108373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108447	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10109558	0.85[AFR][1000 genomes]
rs10110722	0.83[ASW][hapmap]
rs10110871	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10216621	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10216978	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1051534	0.83[ASW][hapmap];0.87[CHD][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap]
rs10738134	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10955951	0.81[YRI][hapmap]
rs10955953	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955956	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11787175	0.91[ASW][hapmap];0.87[CHD][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs11787250	0.91[ASW][hapmap];0.87[CHD][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs11985149	0.88[EUR][1000 genomes]
rs11985173	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11985197	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11988495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995866	1.00[YRI][hapmap]
rs12541796	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12546625	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12677482	0.94[EUR][1000 genomes]
rs1850885	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35529075	0.83[AFR][1000 genomes]
rs4282615	0.89[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[TSI][hapmap]
rs4336644	0.83[AFR][1000 genomes]
rs4407920	0.89[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[TSI][hapmap]
rs4409431	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4431629	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4633103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871044	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4871827	0.84[CHD][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs62526984	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469898	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6469899	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6980708	1.00[YRI][hapmap]
rs7001214	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71571652	0.83[EUR][1000 genomes]
rs7459865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460965	1.00[CEU][hapmap]
rs7815878	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7817016	1.00[YRI][hapmap]
rs7827219	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834024	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs7840588	0.86[EUR][1000 genomes]
rs9297614	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9969404	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9969405	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9969477	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9969584	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv6364	chr8:121107149-121152206	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12680859	MTBP	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121114800-121136000	Weak transcription	Aorta	Aorta
2	chr8:121116200-121120200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:121118800-121119200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:121118800-121120000	Weak transcription	NHDF-Ad	bronchial

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