Variant report

Variant	rs6049793
Chromosome Location	chr20:24560312-24560313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12480522	1.00[JPT][hapmap]
rs12481146	0.83[CEU][hapmap]
rs1326298	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326301	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1575872	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250061	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250068	1.00[JPT][hapmap]
rs1887057	1.00[JPT][hapmap]
rs2026565	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4813521	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815282	1.00[JPT][hapmap]
rs6049791	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049794	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7268862	1.00[JPT][hapmap]
rs9753747	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr20:24538800-24570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24549800-24565800	Weak transcription	Thymus	Thymus
3	chr20:24552000-24562200	Weak transcription	Right Ventricle	heart
4	chr20:24553800-24564800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:24554000-24560400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:24554000-24564800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr20:24554600-24560400	Weak transcription	Brain Angular Gyrus	brain
8	chr20:24554600-24562000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:24555800-24564000	Weak transcription	Brain Hippocampus Middle	brain
10	chr20:24558800-24562400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:24559800-24563200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:24559800-24564000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:24560200-24560400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:24560200-24560800	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:24560200-24560800	Enhancers	Fetal Muscle Leg	muscle
16	chr20:24560200-24561000	Enhancers	Brain Substantia Nigra	brain

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

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