Variant report

Variant	rs56173994
Chromosome Location	chr3:134488038-134488039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1447692	0.95[EUR][1000 genomes]
rs1554112	0.95[EUR][1000 genomes]
rs16842007	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695280	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763071	0.90[EUR][1000 genomes]
rs17763226	0.90[EUR][1000 genomes]
rs1980139	0.89[EUR][1000 genomes]
rs1992860	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955491	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008643	0.90[EUR][1000 genomes]
rs56053017	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241636	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56242709	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295702	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358843	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767950	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67899261	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804153	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807008	0.83[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	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935512	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs938379	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]

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
rs56173994	EPHB1	cis	Esophagus Mucosa	GTEx
rs56173994	EPHB1	cis	Esophagus Muscularis	GTEx
rs56173994	EPHB1	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134484400-134489800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:134487000-134489200	Enhancers	Fetal Intestine Large	intestine
3	chr3:134487200-134489800	Enhancers	Fetal Intestine Small	intestine
4	chr3:134487400-134489000	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:134487400-134489000	Enhancers	Pancreas	Pancrea
6	chr3:134487600-134489000	Enhancers	Stomach Mucosa	stomach
7	chr3:134488000-134488800	Enhancers	Psoas Muscle	Psoas
8	chr3:134488000-134488800	Weak transcription	Small Intestine	intestine
9	chr3:134488000-134492000	Weak transcription	Fetal Heart	heart

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