Variant report

Variant	rs9493513
Chromosome Location	chr6:133414338-133414339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10457002	0.88[EUR][1000 genomes]
rs10457600	0.80[EUR][1000 genomes]
rs12192002	0.93[EUR][1000 genomes]
rs12192605	0.93[EUR][1000 genomes]
rs12193118	0.84[EUR][1000 genomes]
rs12198619	0.82[EUR][1000 genomes]
rs12199138	0.80[EUR][1000 genomes]
rs12200155	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12205139	0.88[EUR][1000 genomes]
rs12212715	0.88[EUR][1000 genomes]
rs12213350	0.80[EUR][1000 genomes]
rs12213452	0.80[EUR][1000 genomes]
rs12215217	0.80[EUR][1000 genomes]
rs28538690	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077767	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4077768	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4273707	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4273708	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57161827	0.91[EUR][1000 genomes]
rs58835706	0.88[EUR][1000 genomes]
rs62430562	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62430580	0.82[EUR][1000 genomes]
rs62430581	0.82[EUR][1000 genomes]
rs62430582	0.88[EUR][1000 genomes]
rs62430588	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62430590	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6902225	0.84[EUR][1000 genomes]
rs6911954	0.88[EUR][1000 genomes]
rs6927627	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6933214	0.84[EUR][1000 genomes]
rs6935070	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6935480	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936410	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6937029	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6939899	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6940959	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72557636	0.87[EUR][1000 genomes]
rs7738156	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7738592	0.92[EUR][1000 genomes]
rs7756171	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7756963	0.81[EUR][1000 genomes]
rs7761372	0.93[EUR][1000 genomes]
rs9321388	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9321389	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9483529	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9483530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9483535	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9493514	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493515	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9493517	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9493518	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3445931	chr6:133347824-133434532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519475	chr6:133350936-133474673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133410800-133420200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:133413600-133414400	Enhancers	Fetal Thymus	thymus
3	chr6:133413600-133417200	Enhancers	Brain Substantia Nigra	brain
4	chr6:133413800-133416200	Enhancers	Brain Anterior Caudate	brain
5	chr6:133414000-133414600	Enhancers	Brain Angular Gyrus	brain
6	chr6:133414000-133417200	Enhancers	Brain Inferior Temporal Lobe	brain

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