Variant report

Variant	rs1830083
Chromosome Location	chr3:133508551-133508552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133487018..133489048-chr3:133506905..133509530,2	K562	blood:
2	chr3:133507858..133509581-chr3:133515622..133517840,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12490148	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12595	0.86[AMR][1000 genomes]
rs13079426	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525889	0.85[AMR][1000 genomes]
rs1534165	0.85[ASN][1000 genomes]
rs1830084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34252038	0.82[AMR][1000 genomes]
rs34805309	0.81[AMR][1000 genomes]
rs35332919	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811658	0.81[AMR][1000 genomes]
rs4854760	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4854761	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4854762	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6794945	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217233	0.85[ASN][1000 genomes]
rs7638018	0.86[AMR][1000 genomes]
rs8177245	0.81[AMR][1000 genomes]
rs8177248	0.81[AMR][1000 genomes]
rs8177260	0.81[EUR][1000 genomes]
rs8177271	0.81[AMR][1000 genomes]
rs8177272	0.81[AMR][1000 genomes]
rs8177295	0.81[AMR][1000 genomes]
rs9813689	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843728	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9871148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1005045	chr3:133501591-133510973	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133498600-133510400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:133499000-133510800	Weak transcription	Brain Hippocampus Middle	brain

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