Variant report

Variant	rs62509321
Chromosome Location	chr8:49546103-49546104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10099531	0.81[ASN][1000 genomes]
rs10957178	0.82[EUR][1000 genomes]
rs10957179	0.82[EUR][1000 genomes]
rs10957183	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12542549	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544004	0.84[EUR][1000 genomes]
rs12545705	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1809451	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2128241	0.86[AMR][1000 genomes]
rs62509354	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs900239	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900240	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9650145	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9650146	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62509321	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49537600-49547000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:49538600-49546200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:49543200-49548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:49543200-49548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:49543400-49548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:49543600-49548200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49544200-49548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:49544400-49555400	Weak transcription	Osteobl	bone
10	chr8:49545800-49546200	Enhancers	Ovary	ovary
11	chr8:49545800-49546400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:49545800-49546600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:49545800-49546600	Enhancers	Fetal Stomach	stomach
14	chr8:49545800-49547200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:49546000-49546200	Flanking Active TSS	Fetal Lung	lung
16	chr8:49546000-49546400	Enhancers	Fetal Kidney	kidney
17	chr8:49546000-49546600	Enhancers	Adipose Nuclei	Adipose
18	chr8:49546000-49547000	Enhancers	Placenta	Placenta

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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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