Variant report

Variant	rs1483479
Chromosome Location	chr3:88862307-88862308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11128061	0.93[EUR][1000 genomes]
rs13321295	0.85[EUR][1000 genomes]
rs1483480	0.91[EUR][1000 genomes]
rs4241402	0.93[EUR][1000 genomes]
rs4241403	0.93[EUR][1000 genomes]
rs4301012	0.89[EUR][1000 genomes]
rs4377496	0.91[EUR][1000 genomes]
rs4558761	0.80[EUR][1000 genomes]
rs4855790	0.93[EUR][1000 genomes]
rs4855811	0.93[EUR][1000 genomes]
rs4855816	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6551368	0.81[EUR][1000 genomes]
rs6551371	0.82[EUR][1000 genomes]
rs6551372	0.92[EUR][1000 genomes]
rs6773197	0.92[EUR][1000 genomes]
rs6792929	0.93[EUR][1000 genomes]
rs6805311	0.93[EUR][1000 genomes]
rs7434092	0.92[EUR][1000 genomes]
rs7615019	0.92[EUR][1000 genomes]
rs7621168	0.92[EUR][1000 genomes]
rs7625470	0.84[EUR][1000 genomes]
rs7630500	0.92[EUR][1000 genomes]
rs9827227	0.93[EUR][1000 genomes]
rs9830958	0.83[EUR][1000 genomes]
rs9851828	0.82[EUR][1000 genomes]
rs9869106	0.93[EUR][1000 genomes]
rs9870254	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv877157	chr3:88690163-88974863	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1483479	EPHA3	cis	parietal	SCAN
rs1483479	C3orf38	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88859200-88862800	Weak transcription	Fetal Brain Male	brain
2	chr3:88860600-88865400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:88860600-88865400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:88862000-88863200	Weak transcription	Fetal Heart	heart

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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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