Variant report

Variant	rs720366
Chromosome Location	chr3:134508212-134508213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12488253	0.92[YRI][hapmap]
rs1447692	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1554112	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16842007	0.89[EUR][1000 genomes]
rs17695280	0.89[EUR][1000 genomes]
rs17763071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17763226	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980139	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992860	0.90[EUR][1000 genomes]
rs4955491	0.89[EUR][1000 genomes]
rs5008643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56053017	0.89[EUR][1000 genomes]
rs56173994	0.90[EUR][1000 genomes]
rs56241636	0.89[EUR][1000 genomes]
rs56242709	0.85[EUR][1000 genomes]
rs56295702	0.91[EUR][1000 genomes]
rs56358843	0.89[EUR][1000 genomes]
rs6767950	0.89[EUR][1000 genomes]
rs67899261	0.86[EUR][1000 genomes]
rs6804153	0.89[EUR][1000 genomes]
rs68091188	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs719893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225096	0.89[EUR][1000 genomes]
rs73227010	0.90[EUR][1000 genomes]
rs935512	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs938379	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9867555	0.88[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs720366	EPHB1	cis	Esophagus Muscularis	GTEx
rs720366	EPHB1	cis	Artery Tibial	GTEx
rs720366	EPHB1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134507600-134508400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:134507600-134508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:134507800-134509600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:134508000-134509200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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