Variant report

Variant	rs7268298
Chromosome Location	chr20:53271111-53271112
allele	A/C
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:13)

rs_ID	r²[population]
rs11905874	0.82[YRI][hapmap]
rs11907565	1.00[AMR][1000 genomes]
rs11907588	1.00[AMR][1000 genomes]
rs2426523	1.00[AMR][1000 genomes]
rs2426527	1.00[AMR][1000 genomes]
rs2426528	1.00[AMR][1000 genomes]
rs2426532	1.00[AMR][1000 genomes]
rs2426533	1.00[AMR][1000 genomes]
rs2426534	1.00[AMR][1000 genomes]
rs55924953	1.00[AMR][1000 genomes]
rs7266570	0.97[AFR][1000 genomes]
rs73913652	1.00[AMR][1000 genomes]
rs73913655	1.00[AMR][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:14 , 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	chr20:53270400-53271600	Enhancers	Fetal Lung	lung
4	chr20:53270600-53271200	Enhancers	Fetal Kidney	kidney
5	chr20:53270600-53271800	Enhancers	Fetal Stomach	stomach
6	chr20:53270800-53271600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr20:53270800-53271600	Enhancers	Fetal Brain Male	brain
8	chr20:53270800-53271600	Enhancers	Fetal Brain Female	brain
9	chr20:53270800-53271800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:53270800-53271800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:53270800-53271800	Enhancers	Ovary	ovary
12	chr20:53270800-53272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:53271000-53271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:53271000-53272200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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