Variant report

Variant	rs12062467
Chromosome Location	chr1:84539199-84539200
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11163896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059074	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075911	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1732	chr1:84499098-84544635	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3379138	chr1:84531980-84545128	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84536600-84542400	Weak transcription	Fetal Lung	lung
2	chr1:84537600-84541000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:84537600-84541000	Weak transcription	K562	blood
4	chr1:84538000-84541200	Weak transcription	Liver	Liver
5	chr1:84538000-84542000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:84538400-84542400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:84538400-84542800	Weak transcription	HSMM	muscle
8	chr1:84538600-84542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:84538600-84542400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:84538600-84542400	Weak transcription	Osteobl	bone
11	chr1:84538800-84542200	Weak transcription	Fetal Brain Male	brain

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

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