Variant report

Variant	rs62365867
Chromosome Location	chr5:80625353-80625354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10942946	1.00[ASN][1000 genomes]
rs11739833	0.81[EUR][1000 genomes]
rs11740916	1.00[ASN][1000 genomes]
rs11745275	1.00[ASN][1000 genomes]
rs12516089	1.00[ASN][1000 genomes]
rs12517538	1.00[ASN][1000 genomes]
rs12518716	1.00[ASN][1000 genomes]
rs16878594	1.00[ASN][1000 genomes]
rs16878597	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067803	1.00[ASN][1000 genomes]
rs62365031	1.00[ASN][1000 genomes]
rs62365032	1.00[ASN][1000 genomes]
rs62365035	1.00[ASN][1000 genomes]
rs62365038	1.00[ASN][1000 genomes]
rs62365866	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72771170	1.00[ASN][1000 genomes]
rs7731320	1.00[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs62365867	CTC-281B15.1	cis	Artery Tibial	GTEx
rs62365867	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs62365867	CTC-281B15.1	cis	Adipose Subcutaneous	GTEx
rs62365867	CTC-281B15.1	cis	lung	GTEx
rs62365867	CTC-281B15.1	cis	Thyroid	GTEx
rs62365867	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs62365867	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80622400-80632400	Strong transcription	Liver	Liver
2	chr5:80623800-80625400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:80623800-80625600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:80623800-80626000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:80623800-80626200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:80624600-80626000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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