Variant report

Variant	rs72808089
Chromosome Location	chr5:116290980-116290981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11742262	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17311978	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17312027	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2416457	1.00[ASN][1000 genomes]
rs4920862	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59419128	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6897938	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72808088	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1020292	chr5:116183712-116349633	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1033379	chr5:116244963-116464338	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882750	chr5:116252792-116292091	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1017455	chr5:116261466-116302129	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv969206	chr5:116288516-116300472	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116287200-116291000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:116289400-116291000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr5:116289600-116291000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:116289800-116295000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:116289800-116297000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:116290000-116291000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:116290000-116293200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:116290600-116293000	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:116290600-116299600	Weak transcription	Brain Substantia Nigra	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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