Variant report

Variant	rs935512
Chromosome Location	chr3:134491993-134491994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12487946	0.89[ASN][1000 genomes]
rs12488253	0.82[JPT][hapmap]
rs12494934	0.89[ASN][1000 genomes]
rs1447692	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554112	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842007	0.94[EUR][1000 genomes]
rs17695280	0.94[EUR][1000 genomes]
rs17763071	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17763226	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1980139	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1992860	0.95[EUR][1000 genomes]
rs4955491	0.94[EUR][1000 genomes]
rs5008643	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56053017	0.94[EUR][1000 genomes]
rs56173994	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56241636	0.94[EUR][1000 genomes]
rs56242709	0.91[EUR][1000 genomes]
rs56295702	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56358843	0.94[EUR][1000 genomes]
rs58134809	0.89[ASN][1000 genomes]
rs6767950	0.94[EUR][1000 genomes]
rs67899261	0.92[EUR][1000 genomes]
rs6804153	0.94[EUR][1000 genomes]
rs68091188	0.82[AMR][1000 genomes]
rs719893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs720365	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs720366	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73225096	0.94[EUR][1000 genomes]
rs73227010	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs938379	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867555	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][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
rs935512	EPHB1	cis	Esophagus Muscularis	GTEx
rs935512	EPHB1	cis	Esophagus Mucosa	GTEx
rs935512	EPHB1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134488000-134492000	Weak transcription	Fetal Heart	heart
2	chr3:134490400-134492400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:134490800-134492000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:134490800-134492000	Enhancers	Psoas Muscle	Psoas
5	chr3:134491000-134492200	Enhancers	Fetal Muscle Leg	muscle
6	chr3:134491200-134492000	Enhancers	HSMMtube	muscle
7	chr3:134491600-134492000	Enhancers	Fetal Muscle Trunk	muscle

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