Variant report

Variant	rs6014112
Chromosome Location	chr20:53273976-53273977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012643	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1013660	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs1474763	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1997834	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2870337	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2870340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2904389	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4362623	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6014111	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6023474	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023475	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023477	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6064102	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6068935	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6127251	0.90[AMR][1000 genomes];0.98[EUR][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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53266800-53276000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr20:53267000-53277200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:53271600-53275000	Weak transcription	Fetal Brain Male	brain
4	chr20:53271600-53275000	Weak transcription	Fetal Brain Female	brain
5	chr20:53271800-53276000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:53271800-53276000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:53272000-53276000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:53272200-53275800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:53273800-53274400	Bivalent Enhancer	HepG2	liver

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

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