Variant report

Variant	rs900239
Chromosome Location	chr8:49547979-49547980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10099531	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957178	0.93[EUR][1000 genomes]
rs10957179	0.93[EUR][1000 genomes]
rs10957183	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12542549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12544004	0.95[EUR][1000 genomes]
rs12545705	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809451	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2128241	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62509321	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62509354	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7831800	0.81[AMR][1000 genomes]
rs900240	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9650145	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9650146	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs900239	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49543200-49548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:49543200-49548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:49543400-49548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49543600-49548200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:49544200-49548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:49544400-49555400	Weak transcription	Osteobl	bone
8	chr8:49546600-49554400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:49547000-49548800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:49547200-49551200	Weak transcription	Ovary	ovary
11	chr8:49547400-49553400	Weak transcription	Fetal Lung	lung

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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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