Variant report

Variant	rs60418054
Chromosome Location	chr1:224734182-224734183
allele	G/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]
rs57845819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57931386	1.00[AMR][1000 genomes]
rs58482551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58565730	1.00[AMR][1000 genomes]
rs59931444	1.00[AMR][1000 genomes]
rs60681998	1.00[AMR][1000 genomes]
rs60737124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61556319	0.95[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224731600-224734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:224731600-224734600	Weak transcription	Pancreas	Pancrea
3	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
4	chr1:224732400-224734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:224732800-224734600	Weak transcription	HMEC	breast
6	chr1:224732800-224734800	Enhancers	NHDF-Ad	bronchial
7	chr1:224733200-224734600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224733400-224735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:224733800-224734600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224734000-224734200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:224734000-224734200	Enhancers	Esophagus	oesophagus
12	chr1:224734000-224735200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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