Variant report

Variant	rs166555
Chromosome Location	chr1:112600995-112600996
allele	C/T
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:10)

rs_ID	r²[population]
rs12724483	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12749667	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12751286	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1372861	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs269101	0.88[AFR][1000 genomes]
rs3008534	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3017628	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400151	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4088223	0.93[EUR][1000 genomes]
rs4838935	0.84[AMR][1000 genomes];0.87[EUR][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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv831059	chr1:112569062-112724725	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831070	chr1:112594658-112792539	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112596400-112603400	Weak transcription	Right Atrium	heart
2	chr1:112597400-112607000	Weak transcription	Spleen	Spleen
3	chr1:112599400-112604000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:112599600-112603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:112599800-112601200	Enhancers	Fetal Heart	heart
6	chr1:112600200-112603600	Enhancers	NHEK	skin
7	chr1:112600400-112601200	Enhancers	Esophagus	oesophagus
8	chr1:112600400-112605200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:112600600-112602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:112600600-112602400	Weak transcription	Left Ventricle	heart
11	chr1:112600600-112605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:112600800-112601000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:112600800-112601000	Enhancers	Right 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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