Variant report

Variant	rs716371
Chromosome Location	chr13:50395521-50395522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50366548..50368191-chr13:50395507..50397150,2	MCF-7	breast:
2	chr13:50365656..50368255-chr13:50394184..50396583,2	K562	blood:
3	chr13:50365656..50370137-chr13:50393100..50397316,5	K562	blood:
4	chr13:50393684..50395884-chr13:50422220..50424926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1009334	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11616903	1.00[JPT][hapmap]
rs1198314	0.97[EUR][1000 genomes]
rs1198316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs1198318	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1198326	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1198330	0.86[ASN][1000 genomes]
rs1198331	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1198332	0.84[ASN][1000 genomes]
rs1923661	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]
rs1967761	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025225	1.00[JPT][hapmap]
rs2407701	0.98[EUR][1000 genomes]
rs2897769	0.84[EUR][1000 genomes]
rs3903769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716370	0.82[LWK][hapmap]
rs7320463	1.00[JPT][hapmap]
rs7321520	1.00[JPT][hapmap]
rs7994774	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8000298	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8000321	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526608	1.00[JPT][hapmap]
rs9535372	1.00[JPT][hapmap]
rs9535374	1.00[JPT][hapmap]
rs9562920	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs9562923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs9562924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs9562930	0.90[ASN][1000 genomes]
rs9568315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs9568319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs9568320	0.92[EUR][1000 genomes]
rs9568327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs9568328	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs9568331	0.92[EUR][1000 genomes]
rs9568332	0.97[EUR][1000 genomes]
rs957475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs9591301	0.92[EUR][1000 genomes]
rs9596178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs9596179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs9596190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs716371	EBPL	cis	lymphoblastoid	seeQTL
rs716371	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs716371	EBPL	cis	Thyroid	GTEx
rs716371	EBPL	cis	Artery Tibial	GTEx
rs716371	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50394000-50396000	Enhancers	HepG2	liver
2	chr13:50394000-50403800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50394400-50395800	Enhancers	Fetal Intestine Small	intestine
4	chr13:50394800-50395600	Enhancers	Fetal Intestine Large	intestine
5	chr13:50394800-50396200	Enhancers	K562	blood
6	chr13:50394800-50396400	Enhancers	Fetal Heart	heart
7	chr13:50394800-50396600	Enhancers	Placenta	Placenta

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