Variant report

Variant	rs4242468
Chromosome Location	chr8:52634624-52634625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13266611	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2976211	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4256584	0.87[AMR][1000 genomes]
rs4873581	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60640945	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6984491	0.87[AMR][1000 genomes]
rs6995793	1.00[AMR][1000 genomes]
rs7017055	1.00[AMR][1000 genomes]
rs73572372	0.87[AMR][1000 genomes]
rs73574283	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73580249	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7817291	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7831731	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832319	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7841882	0.81[AFR][1000 genomes];0.87[AMR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv890898	chr8:52579964-52680933	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 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	chr8:52630600-52636000	Weak transcription	Pancreas	Pancrea
2	chr8:52633200-52634800	Enhancers	Fetal Lung	lung
3	chr8:52633800-52636400	Weak transcription	Right Ventricle	heart
4	chr8:52634400-52635200	Enhancers	Right Atrium	heart
5	chr8:52634400-52637400	Enhancers	Left Ventricle	heart
6	chr8:52634600-52635200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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