Variant report

Variant	rs1863730
Chromosome Location	chr10:54092652-54092653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10508971	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11001698	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11001726	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11001728	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11001729	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11812118	0.86[EUR][1000 genomes]
rs11815399	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12767827	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12775601	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12776422	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12778940	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12780421	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1528873	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528874	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35962022	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7908091	0.91[EUR][1000 genomes];0.99[ASN][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	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv895400	chr10:54073294-54094359	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr10:54078400-54094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:54078600-54093200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:54083200-54094400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:54084000-54094000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:54086000-54093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:54086400-54093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:54086400-54097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:54090600-54094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:54091400-54095200	Enhancers	HepG2	liver
10	chr10:54091600-54094000	Enhancers	HUVEC	blood vessel
11	chr10:54092000-54094400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:54092200-54094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:54092600-54093400	Flanking Active TSS	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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