Variant report

Variant	rs6415598
Chromosome Location	chr8:49714878-49714879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12548278	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1871889	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3750259	0.81[EUR][1000 genomes]
rs4873286	0.82[EUR][1000 genomes]
rs4873289	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472050	0.83[AMR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6415598	EFCAB1	cis	Esophagus Mucosa	GTEx
rs6415598	EFCAB1	cis	Esophagus Muscularis	GTEx
rs6415598	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx
rs6415598	EFCAB1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49703000-49716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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