Variant report

Variant	rs1992860
Chromosome Location	chr3:134484098-134484099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11709157	1.00[CHB][hapmap]
rs11710344	1.00[CHB][hapmap]
rs11718274	1.00[CHB][hapmap]
rs11718320	1.00[CHB][hapmap]
rs1447692	0.95[EUR][1000 genomes]
rs1554112	0.95[EUR][1000 genomes]
rs16842007	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695812	1.00[CHB][hapmap]
rs17763071	0.90[EUR][1000 genomes]
rs17763226	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1980139	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4955491	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008643	0.90[EUR][1000 genomes]
rs56053017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173994	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241636	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56242709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295702	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358843	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439526	1.00[CHB][hapmap]
rs6767950	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67899261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804153	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807008	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719893	0.90[EUR][1000 genomes]
rs720365	0.88[EUR][1000 genomes]
rs720366	0.90[EUR][1000 genomes]
rs73225096	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227010	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651593	1.00[CHB][hapmap]
rs935512	0.95[EUR][1000 genomes]
rs938379	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9818551	1.00[CHB][hapmap]
rs9839234	1.00[CHB][hapmap]
rs9841462	1.00[CHB][hapmap]
rs9867555	0.94[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv518817	chr3:134478108-134486080	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1992860	EPHB1	cis	Esophagus Mucosa	GTEx
rs1992860	EPHB1	cis	Esophagus Muscularis	GTEx
rs1992860	EPHB1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134481200-134484400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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