Variant report

Variant	rs4851327
Chromosome Location	chr2:101129440-101129441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11676919	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11686982	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692773	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13400599	0.85[EUR][1000 genomes]
rs1589246	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024338	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024346	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024431	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309854	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2871351	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4365485	0.91[EUR][1000 genomes]
rs4851325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57238210	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59329710	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72964183	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72964189	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7370665	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101128800-101129800	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:101128800-101129800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:101128800-101130000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:101129000-101130000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:101129400-101131600	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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