Variant report

Variant	rs56122467
Chromosome Location	chr14:80301580-80301581
allele	C/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:7)

rs_ID	r²[population]
rs11628915	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12881435	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17764884	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35224540	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35732569	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67488951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155646	0.87[AMR][1000 genomes];0.83[EUR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80292800-80302200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:80298000-80302000	Weak transcription	Brain Substantia Nigra	brain
3	chr14:80298600-80302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:80298600-80302400	Weak transcription	NHLF	lung
5	chr14:80299000-80302200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:80299000-80302400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:80300400-80302000	Weak transcription	Brain Germinal Matrix	brain
8	chr14:80300600-80302200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:80301200-80303200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:80301200-80303200	Enhancers	H9 Derived Neuron 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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