Variant report

Variant	rs1923661
Chromosome Location	chr13:50387589-50387590
allele	A/T
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: 40 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009334	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11616903	1.00[JPT][hapmap]
rs1198314	1.00[EUR][1000 genomes]
rs1198316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198318	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1198326	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1198330	0.88[ASN][1000 genomes]
rs1198331	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1198332	0.86[ASN][1000 genomes]
rs1967761	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025225	1.00[JPT][hapmap]
rs2407701	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2897769	0.87[EUR][1000 genomes]
rs3903769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6561564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7320463	1.00[JPT][hapmap]
rs7321520	1.00[JPT][hapmap]
rs7994774	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8000298	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8000321	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526608	1.00[JPT][hapmap]
rs9535372	1.00[JPT][hapmap]
rs9535374	1.00[JPT][hapmap]
rs9562920	1.00[CHB][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs9562923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9562924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9562930	0.92[ASN][1000 genomes]
rs9568315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs9568319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9568320	0.95[EUR][1000 genomes]
rs9568327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs9568328	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs9568331	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9568332	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs957475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs9591301	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9596178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs9596179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs9596190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1923661	EBPL	cis	Nerve Tibial	GTEx
rs1923661	EBPL	cis	Artery Tibial	GTEx
rs1923661	EBPL	cis	Thyroid	GTEx
rs1923661	EBPL	cis	Esophagus Muscularis	GTEx
rs1923661	EBPL	cis	multi-tissue	Pritchard
rs1923661	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs1923661	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs1923661	EBPL	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50383600-50389400	Enhancers	Fetal Heart	heart
2	chr13:50384200-50390200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50384800-50389600	Weak transcription	Placenta	Placenta
4	chr13:50385000-50389400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:50385600-50387800	Weak transcription	A549	lung
6	chr13:50385600-50388200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:50386000-50390400	Enhancers	HepG2	liver
8	chr13:50386200-50388200	Weak transcription	Left Ventricle	heart
9	chr13:50387000-50387600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:50387200-50388200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:50387200-50388200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:50387200-50388200	Enhancers	Fetal Lung	lung
13	chr13:50387200-50388400	Enhancers	HSMMtube	muscle
14	chr13:50387400-50387600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr13:50387400-50387800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:50387400-50394600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:50387400-50394800	Weak transcription	Fetal Intestine Large	intestine

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