Variant report

Variant	rs12545705
Chromosome Location	chr8:49543205-49543206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49541767..49544762-chr8:49827612..49829547,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10957178	0.82[EUR][1000 genomes]
rs10957179	0.82[EUR][1000 genomes]
rs10957183	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12542549	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12544004	0.84[EUR][1000 genomes]
rs1809451	0.88[ASN][1000 genomes]
rs2128241	0.86[AMR][1000 genomes]
rs62509321	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62509354	0.88[AMR][1000 genomes]
rs900239	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs900240	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9650145	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9650146	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12545705	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:26 , 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	chr8:49538400-49545800	Weak transcription	Fetal Stomach	stomach
4	chr8:49538600-49546200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:49538800-49544000	Enhancers	HMEC	breast
6	chr8:49539000-49543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:49539000-49546000	Weak transcription	Fetal Kidney	kidney
8	chr8:49539200-49544200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:49539200-49544200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:49539600-49544000	Enhancers	NHEK	skin
11	chr8:49539800-49544200	Enhancers	NH-A	brain
12	chr8:49540000-49543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49540400-49545800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:49542200-49544000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:49542400-49544000	Enhancers	HSMM	muscle
16	chr8:49542600-49544400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:49542800-49543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:49542800-49544200	Enhancers	NHDF-Ad	bronchial
19	chr8:49542800-49544400	Enhancers	Osteobl	bone
20	chr8:49543000-49543600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:49543000-49544200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:49543000-49544200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:49543200-49546000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:49543200-49546000	Weak transcription	Placenta	Placenta
25	chr8:49543200-49548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:49543200-49548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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