Variant report

Variant	rs2128241
Chromosome Location	chr8:49576102-49576103
allele	G/T
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[CHB][hapmap];0.83[AMR][1000 genomes]
rs10957178	0.83[EUR][1000 genomes]
rs10957179	0.83[EUR][1000 genomes]
rs10957183	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12542549	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12544004	0.86[EUR][1000 genomes]
rs12545705	0.86[AMR][1000 genomes]
rs62509321	0.86[AMR][1000 genomes]
rs62509354	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831800	0.81[AMR][1000 genomes]
rs900239	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]
rs900240	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9650145	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9650146	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2128241	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49570000-49584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49572200-49577400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:49573400-49586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:49574800-49576200	Enhancers	Brain Germinal Matrix	brain
5	chr8:49575200-49576400	Enhancers	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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