Variant report

Variant	rs642280
Chromosome Location	chr11:120833767-120833768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11218062	0.94[CEU][hapmap];0.80[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs11218065	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes]
rs11218067	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes]
rs11218073	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes]
rs11218081	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11218082	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11218092	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11607159	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12225735	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs12796298	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12796452	0.94[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs12796457	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12805801	0.93[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs1789661	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs477389	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs478978	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936564	0.94[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs4936567	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs4936570	0.94[MEX][hapmap];0.86[AMR][1000 genomes]
rs499804	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs526397	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs540787	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs542378	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs543181	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs570373	0.93[CEU][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs582800	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs591671	0.91[EUR][1000 genomes]
rs598804	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs607142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs608891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61903169	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61903170	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs645156	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs645545	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs658696	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66550414	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs674352	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs684613	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs688893	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs732481	0.97[ASN][1000 genomes]
rs734167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73585281	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73585283	0.86[AMR][1000 genomes];0.92[EUR][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	nsv1042469	chr11:120799275-120846585	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541183	chr11:120799275-120846585	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs642280	CBL	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120823600-120841600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120823800-120837000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:120824000-120836000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120824000-120838600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:120824000-120845200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:120828400-120834000	Weak transcription	Fetal Lung	lung
7	chr11:120829000-120845200	Weak transcription	Fetal Brain Male	brain
8	chr11:120833400-120837600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:120833400-120856400	Weak transcription	Ovary	ovary

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