Variant report

Variant	rs42916
Chromosome Location	chr5:127560659-127560660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs152906	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs181850	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs185177	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251213	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251214	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251387	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2546147	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2617621	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36693	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36694	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36697	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36698	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36700	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36702	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36712	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36714	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36715	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40527	0.93[EUR][1000 genomes];0.89[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs42916	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127560400-127561800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:127560400-127561800	Enhancers	HSMM	muscle
3	chr5:127560400-127563200	Weak transcription	Osteobl	bone
4	chr5:127560600-127561400	Enhancers	HSMMtube	muscle
5	chr5:127560600-127562800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:127560600-127563000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:127560600-127563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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