Variant report

Variant	rs2293819
Chromosome Location	chr14:80289687-80289688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10144071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162466	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1159039	0.83[ASN][1000 genomes]
rs11623525	0.82[ASN][1000 genomes]
rs12589026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590855	0.84[ASN][1000 genomes]
rs12895492	0.82[ASN][1000 genomes]
rs2049831	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205217	0.83[ASN][1000 genomes]
rs2223033	0.83[ASN][1000 genomes]
rs2242642	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242643	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242644	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242645	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242646	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242647	0.83[ASN][1000 genomes]
rs2242649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280799	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293820	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293824	0.82[ASN][1000 genomes]
rs2293825	0.99[ASN][1000 genomes]
rs2293826	0.83[ASN][1000 genomes]
rs2293829	0.84[ASN][1000 genomes]
rs2293830	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35152678	0.82[ASN][1000 genomes]
rs4486813	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903880	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3412265	chr14:80289484-80290457	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80286600-80291000	Enhancers	Brain Substantia Nigra	brain
2	chr14:80287600-80290000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:80287600-80291600	Weak transcription	Fetal Lung	lung
4	chr14:80287800-80290200	Weak transcription	Fetal Kidney	kidney
5	chr14:80288000-80296000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:80288800-80290200	Weak transcription	Brain Anterior Caudate	brain
7	chr14:80289200-80291600	Enhancers	Brain Hippocampus Middle	brain
8	chr14:80289400-80290200	Weak transcription	Brain Angular Gyrus	brain
9	chr14:80289400-80290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:80289400-80291600	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:80289600-80290000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:80289600-80291000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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