Variant report

Variant	rs57641811
Chromosome Location	chr12:58477840-58477841
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55802218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55866322	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56675346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57931834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59812561	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61054293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337707	1.00[AMR][1000 genomes]
rs73337724	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3502230	chr12:58458209-58490226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3502241	chr12:58458223-58490223	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2830232	chr12:58470456-58498926	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 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	chr12:58472200-58481000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:58475600-58482800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:58476000-58479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:58476000-58480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:58477200-58479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:58477800-58481000	Weak transcription	Left Ventricle	heart

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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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