Variant report

Variant	rs2293827
Chromosome Location	chr14:80300212-80300213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17109827	0.95[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs2293842	0.87[JPT][hapmap]
rs72698409	0.80[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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr14:80292800-80302200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:80297800-80300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:80298000-80302000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:80298600-80302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:80298600-80302400	Weak transcription	NHLF	lung
6	chr14:80299000-80302200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:80299000-80302400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:80300000-80300400	Enhancers	Fetal Lung	lung
9	chr14:80300200-80300400	Enhancers	Brain Anterior Caudate	brain
10	chr14:80300200-80300400	Enhancers	Brain Germinal Matrix	brain
11	chr14:80300200-80300600	Enhancers	Brain Hippocampus Middle	brain

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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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