Variant report

Variant	rs5019682
Chromosome Location	chr5:117129402-117129403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10477564	0.88[ASN][1000 genomes]
rs12108856	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12188248	0.85[ASN][1000 genomes]
rs12188743	0.85[ASN][1000 genomes]
rs13157123	0.83[ASN][1000 genomes]
rs35843265	0.85[ASN][1000 genomes]
rs4244396	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4434417	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4920881	0.83[ASN][1000 genomes]
rs62380340	0.85[ASN][1000 genomes]
rs62380343	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6650982	0.80[ASN][1000 genomes]
rs7445597	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701042	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719154	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7727383	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7733920	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016664	chr5:116888074-117181273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1019332	chr5:116888074-117248632	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv882760	chr5:117087858-117292268	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv599490	chr5:117118798-117241490	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr5:117129200-117130000	Active TSS	Ovary	ovary
2	chr5:117129400-117129600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:117129400-117129600	Active TSS	Brain Angular Gyrus	brain
4	chr5:117129400-117129600	Enhancers	Brain Hippocampus Middle	brain
5	chr5:117129400-117129600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:117129400-117129800	Enhancers	Fetal Brain Female	brain
7	chr5:117129400-117130000	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:117129400-117130200	Active TSS	Brain Anterior Caudate	brain
9	chr5:117129400-117130200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:117129400-117130400	Enhancers	Brain Germinal Matrix	brain
11	chr5:117129400-117130400	Enhancers	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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