Variant report

Variant	rs60447624
Chromosome Location	chr8:52286633-52286634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57622227	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59313662	0.83[AFR][1000 genomes]
rs60457676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60820519	0.83[AFR][1000 genomes]
rs6984116	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579644	0.95[AFR][1000 genomes]
rs73579645	0.95[AFR][1000 genomes]
rs73579662	0.83[AFR][1000 genomes]
rs73579673	0.83[AFR][1000 genomes]
rs73579680	0.86[AFR][1000 genomes]
rs73579687	0.83[AFR][1000 genomes]
rs9785122	0.83[AFR][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	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	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52283000-52289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52283800-52287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:52284600-52294400	Weak transcription	Right Ventricle	heart
4	chr8:52284600-52296000	Weak transcription	Left Ventricle	heart
5	chr8:52285800-52286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:52286600-52286800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:52286600-52286800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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Input of quick search could be:

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

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