Variant report

Variant	rs57748075
Chromosome Location	chr1:168973222-168973223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489368	0.83[AMR][1000 genomes]
rs11584025	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590068	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1407476	0.87[EUR][1000 genomes]
rs1575330	0.83[AMR][1000 genomes]
rs16861785	0.83[AMR][1000 genomes]
rs3950026	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59728189	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220949	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61302106	0.83[AMR][1000 genomes]
rs61562132	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73043982	0.83[EUR][1000 genomes]
rs992325	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv947332	chr1:168970371-168977238	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168970800-168973600	Weak transcription	HepG2	liver
2	chr1:168972800-168974000	Enhancers	Adipose Nuclei	Adipose
3	chr1:168972800-168974200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:168972800-168974600	Enhancers	Brain Substantia Nigra	brain
5	chr1:168972800-168975400	Enhancers	Hela-S3	cervix
6	chr1:168972800-168976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:168973000-168973600	Enhancers	Left Ventricle	heart
8	chr1:168973000-168973800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:168973000-168973800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:168973000-168974200	Enhancers	A549	lung
11	chr1:168973000-168975800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:168973200-168973600	Enhancers	Aorta	Aorta
13	chr1:168973200-168973600	Enhancers	Right Atrium	heart
14	chr1:168973200-168973800	Enhancers	Fetal Heart	heart
15	chr1:168973200-168974200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:168973200-168974800	Enhancers	Brain Hippocampus Middle	brain

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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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