Variant report

Variant	rs16938731
Chromosome Location	chr8:49671079-49671080
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	chr8:49670019..49671921-chr8:49828868..49831772,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10090819	0.81[EUR][1000 genomes]
rs10108023	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548278	0.84[ASN][1000 genomes]
rs12550270	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276316	0.80[EUR][1000 genomes]
rs1482261	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1871889	0.85[AFR][1000 genomes]
rs2891648	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4873286	0.81[AFR][1000 genomes]
rs6472038	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825339	0.94[EUR][1000 genomes]
rs7835152	0.87[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16938731	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx
rs16938731	EFCAB1	cis	Nerve Tibial	GTEx
rs16938731	EFCAB1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49666800-49671400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:49668200-49671400	Enhancers	Pancreas	Pancrea
3	chr8:49668400-49672000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:49668800-49671400	Enhancers	Ovary	ovary
5	chr8:49669200-49671400	Enhancers	HMEC	breast
6	chr8:49669200-49671600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:49669400-49671200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:49669400-49671200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:49669400-49671400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:49669400-49671400	Enhancers	Fetal Stomach	stomach
11	chr8:49669400-49671400	Enhancers	Lung	lung
12	chr8:49669400-49671400	Enhancers	Right Atrium	heart
13	chr8:49669400-49675000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:49669800-49671200	Enhancers	NHDF-Ad	bronchial
15	chr8:49669800-49671400	Enhancers	NHLF	lung
16	chr8:49670000-49671200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:49670000-49671200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:49670000-49671200	Enhancers	NHEK	skin
19	chr8:49670000-49671400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:49670000-49671400	Enhancers	Adipose Nuclei	Adipose
21	chr8:49670000-49671400	Enhancers	Esophagus	oesophagus
22	chr8:49670000-49671800	Enhancers	Fetal Lung	lung
23	chr8:49670200-49671200	Weak transcription	Spleen	Spleen
24	chr8:49670200-49671400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:49670200-49671400	Enhancers	Fetal Kidney	kidney
26	chr8:49670400-49675600	Weak transcription	Placenta	Placenta
27	chr8:49670600-49671200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:49670600-49671200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:49670600-49671400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:49670600-49675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:49670600-49675800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:49670800-49671200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:49670800-49671400	Bivalent Enhancer	Fetal Heart	heart
34	chr8:49670800-49671400	Enhancers	Left Ventricle	heart
35	chr8:49670800-49671400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:49670800-49675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:49670800-49675800	Weak transcription	Fetal Intestine Small	intestine
38	chr8:49670800-49676400	Weak transcription	HSMMtube	muscle
39	chr8:49671000-49671200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:49671000-49671400	Enhancers	Aorta	Aorta
41	chr8:49671000-49671600	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:49671000-49675600	Weak transcription	Osteobl	bone

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