Variant report

Variant	rs6083557
Chromosome Location	chr20:24543008-24543009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs6036845	0.84[EUR][1000 genomes]
rs6036846	0.83[EUR][1000 genomes]
rs6049718	1.00[LWK][hapmap]
rs6049796	0.84[EUR][1000 genomes]
rs6049801	0.84[EUR][1000 genomes]
rs6049803	0.84[EUR][1000 genomes]
rs6049804	0.82[EUR][1000 genomes]
rs6049809	0.84[EUR][1000 genomes]
rs6083553	1.00[JPT][hapmap]
rs6114791	0.84[EUR][1000 genomes]
rs6114802	0.82[EUR][1000 genomes]
rs62215308	0.86[EUR][1000 genomes]
rs62215309	0.85[EUR][1000 genomes]
rs62215310	0.83[EUR][1000 genomes]
rs7262203	1.00[ASW][hapmap]
rs73098723	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6083557	FBXO48	trans	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24528800-24546400	Weak transcription	Aorta	Aorta
2	chr20:24538800-24570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:24541000-24543200	Enhancers	Brain Substantia Nigra	brain
4	chr20:24541800-24551600	Weak transcription	Fetal Brain Male	brain
5	chr20:24542000-24543600	Enhancers	Brain Hippocampus Middle	brain
6	chr20:24542200-24543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:24542200-24543800	Weak transcription	Psoas Muscle	Psoas
8	chr20:24542200-24544600	Weak transcription	Brain Angular Gyrus	brain
9	chr20:24542200-24552400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr20:24542400-24544000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:24542400-24551800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr20:24542600-24545200	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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