Variant report

Variant	rs57845819
Chromosome Location	chr1:224725098-224725099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55730825	1.00[AMR][1000 genomes]
rs56034385	1.00[AMR][1000 genomes]
rs56825738	1.00[AMR][1000 genomes]
rs56912045	1.00[AMR][1000 genomes]
rs57321094	1.00[AMR][1000 genomes]
rs57931386	1.00[AMR][1000 genomes]
rs58482551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58565730	1.00[AMR][1000 genomes]
rs59931444	1.00[AMR][1000 genomes]
rs60418054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681998	1.00[AMR][1000 genomes]
rs60737124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61556319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146204	1.00[AMR][1000 genomes]
rs74146393	1.00[AMR][1000 genomes]
rs74146397	1.00[AMR][1000 genomes]
rs74146399	1.00[AMR][1000 genomes]
rs74146400	1.00[AMR][1000 genomes]
rs74149624	1.00[AMR][1000 genomes]
rs74149626	1.00[AMR][1000 genomes]
rs873829	1.00[AMR][1000 genomes]
rs873830	1.00[AMR][1000 genomes]
rs873831	1.00[AMR][1000 genomes]
rs873832	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
3	chr1:224717600-224727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224717800-224726000	Weak transcription	Dnd41	blood
5	chr1:224717800-224727200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224718000-224727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224720400-224727400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:224724400-224725200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:224725000-224725400	Enhancers	Pancreas	Pancrea

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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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