Variant report

Variant	rs1198326
Chromosome Location	chr13:50386837-50386838
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	chr13:50365277..50368611-chr13:50385585..50388603,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1008940	0.81[AFR][1000 genomes]
rs1009334	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1198314	1.00[EUR][1000 genomes]
rs1198316	1.00[EUR][1000 genomes]
rs1198318	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1198330	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1198331	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1198332	0.84[ASN][1000 genomes]
rs1923661	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967761	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407701	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2897769	0.87[EUR][1000 genomes]
rs3903769	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6561564	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716371	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7994774	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8000298	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8000321	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562920	0.95[EUR][1000 genomes]
rs9562923	0.95[EUR][1000 genomes]
rs9562924	0.95[EUR][1000 genomes]
rs9562930	0.95[ASN][1000 genomes]
rs9568315	0.88[EUR][1000 genomes]
rs9568319	0.95[EUR][1000 genomes]
rs9568320	0.95[EUR][1000 genomes]
rs9568327	0.95[EUR][1000 genomes]
rs9568328	0.95[EUR][1000 genomes]
rs9568331	0.95[EUR][1000 genomes]
rs9568332	1.00[EUR][1000 genomes]
rs957475	0.95[EUR][1000 genomes]
rs9591301	0.95[EUR][1000 genomes]
rs9596178	0.88[EUR][1000 genomes]
rs9596179	0.88[EUR][1000 genomes]
rs9596190	0.95[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1198326	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs1198326	EBPL	cis	Nerve Tibial	GTEx
rs1198326	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs1198326	EBPL	cis	Artery Tibial	GTEx
rs1198326	EBPL	cis	Thyroid	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50383200-50387200	Enhancers	Fetal Intestine Small	intestine
2	chr13:50383600-50389400	Enhancers	Fetal Heart	heart
3	chr13:50384200-50390200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:50384400-50387400	Enhancers	Fetal Intestine Large	intestine
5	chr13:50384600-50387200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:50384800-50389600	Weak transcription	Placenta	Placenta
7	chr13:50385000-50389400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:50385400-50387200	Weak transcription	Fetal Lung	lung
9	chr13:50385600-50387200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:50385600-50387800	Weak transcription	A549	lung
11	chr13:50385600-50388200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:50386000-50390400	Enhancers	HepG2	liver
13	chr13:50386200-50388200	Weak transcription	Left Ventricle	heart
14	chr13:50386600-50387200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr13:50386600-50387400	Enhancers	Psoas Muscle	Psoas
16	chr13:50386800-50387400	Enhancers	Skeletal Muscle Male	skeletal muscle

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