Variant report

Variant	rs251391
Chromosome Location	chr5:127538116-127538117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs152906	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs181850	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs185177	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251213	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251214	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251216	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251389	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251390	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251393	0.84[EUR][1000 genomes]
rs36693	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36694	0.84[ASN][1000 genomes]
rs36697	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36698	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36700	0.82[EUR][1000 genomes]
rs36702	0.82[EUR][1000 genomes]
rs40527	0.81[EUR][1000 genomes];0.83[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
rs251391	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127534800-127544200	Weak transcription	Left Ventricle	heart
2	chr5:127535000-127539400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:127537600-127539200	Weak transcription	HSMMtube	muscle
4	chr5:127537600-127539400	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:127537600-127539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:127537600-127549200	Weak transcription	A549	lung
7	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:127538000-127538200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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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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