Variant report

Variant	rs719893
Chromosome Location	chr3:134508571-134508572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12488253	0.91[CHD][hapmap];0.93[LWK][hapmap];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	1.00[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	1.00[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]
rs3772678	0.89[LWK][hapmap]
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]
rs720365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.94[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs719893	EPHB1	cis	Artery Tibial	GTEx
rs719893	EPHB1	cis	Esophagus Muscularis	GTEx
rs719893	FAIM	cis	parietal	SCAN
rs719893	MALL	trans	parietal	SCAN
rs719893	EPHB1	cis	Esophagus Mucosa	GTEx
rs719893	NCK1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

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

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