Variant report

Variant	rs2370926
Chromosome Location	chr14:79602542-79602543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10141828	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10148388	0.81[EUR][1000 genomes]
rs11625343	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11627661	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12323794	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2134366	1.00[AFR][1000 genomes]
rs2370902	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2620398	0.80[AMR][1000 genomes]
rs28706257	0.80[EUR][1000 genomes]
rs34121288	0.81[AMR][1000 genomes]
rs4903825	0.82[EUR][1000 genomes]
rs4903833	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72687493	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005334	0.82[AMR][1000 genomes];0.81[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	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1040837	chr14:79583862-79711565	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79601000-79602800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:79601600-79602600	Weak transcription	Brain Anterior Caudate	brain
3	chr14:79602400-79603600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:79602400-79603800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:79602400-79603800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:79602400-79603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:79602400-79603800	Enhancers	hESC Derived CD56+ Ectoderm 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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