Variant report

Variant	rs6994889
Chromosome Location	chr8:66474782-66474783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10957358	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10957359	0.92[EUR][1000 genomes]
rs11786598	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11992528	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13271817	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13281981	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13282323	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28547533	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28709439	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4394432	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6472208	0.87[AFR][1000 genomes]
rs6472209	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6991838	0.85[EUR][1000 genomes]
rs7462352	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6994889	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs6994889	CTD-3025N20.3	cis	Thyroid	GTEx
rs6994889	CTD-3025N20.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472800-66475000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:66474200-66475000	Active TSS	Brain Hippocampus Middle	brain
3	chr8:66474200-66475200	Active TSS	Brain Angular Gyrus	brain
4	chr8:66474400-66475000	Active TSS	Brain Anterior Caudate	brain
5	chr8:66474400-66475000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:66474600-66474800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:66474600-66475000	Active TSS	Brain Substantia Nigra	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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