Variant report

Variant	rs4873286
Chromosome Location	chr8:49622832-49622833
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1074382	0.96[ASN][1000 genomes]
rs10808720	0.95[ASN][1000 genomes]
rs10957199	0.85[ASN][1000 genomes]
rs12548278	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13251991	0.96[ASN][1000 genomes]
rs1482261	0.84[AFR][1000 genomes]
rs1482262	0.96[ASN][1000 genomes]
rs16938731	0.81[AFR][1000 genomes]
rs1871889	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2891648	0.84[AFR][1000 genomes]
rs4873289	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6415598	0.82[EUR][1000 genomes]
rs900237	0.96[ASN][1000 genomes]
rs9332436	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4873286	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx
rs4873286	EFCAB1	cis	Nerve Tibial	GTEx
rs4873286	EFCAB1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49612800-49626400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:49618000-49626000	Weak transcription	Fetal Kidney	kidney
3	chr8:49618200-49628000	Weak transcription	Fetal Lung	lung
4	chr8:49619000-49626200	Weak transcription	Spleen	Spleen
5	chr8:49621400-49623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:49621600-49628600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:49622000-49623000	Flanking Active TSS	HMEC	breast
8	chr8:49622200-49623000	Flanking Active TSS	NHEK	skin
9	chr8:49622400-49623000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:49622400-49625800	Weak transcription	Esophagus	oesophagus
11	chr8:49622400-49625800	Weak transcription	Placenta	Placenta
12	chr8:49622400-49628000	Weak transcription	Ovary	ovary
13	chr8:49622800-49623200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:49622800-49627400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:49622800-49627600	Enhancers	Breast Myoepithelial Primary Cells	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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