Variant report

Variant	rs9650146
Chromosome Location	chr8:49557266-49557267
allele	C/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	0.99[ASN][1000 genomes]
rs10957178	0.88[EUR][1000 genomes]
rs10957179	0.88[EUR][1000 genomes]
rs10957183	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542549	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12544004	0.90[EUR][1000 genomes]
rs12545705	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1809451	0.89[AFR][1000 genomes]
rs2128241	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62509321	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62509354	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs900239	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs900240	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9650146	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49551200-49560800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49551200-49563400	Enhancers	Ovary	ovary
3	chr8:49553000-49560000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:49556400-49558600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:49556400-49559400	Weak transcription	Fetal Kidney	kidney
6	chr8:49556600-49558000	Weak transcription	Esophagus	oesophagus
7	chr8:49556600-49558800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:49556600-49560600	Weak transcription	Aorta	Aorta
9	chr8:49556600-49561000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:49556600-49562600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:49556600-49565600	Weak transcription	NH-A	brain
12	chr8:49556800-49558000	Weak transcription	Fetal Heart	heart
13	chr8:49556800-49558000	Weak transcription	Fetal Lung	lung
14	chr8:49556800-49558000	Weak transcription	Lung	lung
15	chr8:49556800-49558200	Weak transcription	Fetal Stomach	stomach
16	chr8:49556800-49558200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:49556800-49558800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:49556800-49558800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:49556800-49558800	Weak transcription	HSMM	muscle
20	chr8:49556800-49559000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:49556800-49559000	Weak transcription	NHDF-Ad	bronchial
22	chr8:49556800-49559000	Weak transcription	NHLF	lung
23	chr8:49556800-49559200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:49556800-49559200	Weak transcription	HSMMtube	muscle
25	chr8:49556800-49559600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:49556800-49560200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:49556800-49560600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:49556800-49560800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:49556800-49560800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:49556800-49561000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:49556800-49561000	Weak transcription	Osteobl	bone
32	chr8:49556800-49561200	Weak transcription	Liver	Liver
33	chr8:49556800-49561800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:49557000-49558000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:49557000-49558000	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:49557000-49558200	Weak transcription	Placenta	Placenta
37	chr8:49557000-49558200	Weak transcription	Left Ventricle	heart
38	chr8:49557000-49560600	Weak transcription	Pancreas	Pancrea
39	chr8:49557000-49561800	Weak transcription	Adipose Nuclei	Adipose
40	chr8:49557000-49562000	Weak transcription	Spleen	Spleen
41	chr8:49557200-49557600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:49557200-49557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:49557200-49557600	Weak transcription	Right Atrium	heart
44	chr8:49557200-49557600	Weak transcription	Right Ventricle	heart

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