Variant report

Variant	rs2024764
Chromosome Location	chr1:184653521-184653522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1040666	0.80[EUR][1000 genomes]
rs1046239	0.82[EUR][1000 genomes]
rs1061508	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10752941	0.80[EUR][1000 genomes]
rs10797987	0.85[EUR][1000 genomes]
rs12032144	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12043236	0.80[EUR][1000 genomes]
rs12124714	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024765	0.87[EUR][1000 genomes]
rs2024766	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2207733	0.80[EUR][1000 genomes]
rs35478695	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736757	0.81[EUR][1000 genomes]
rs4469687	0.80[EUR][1000 genomes]
rs6663178	0.81[EUR][1000 genomes]
rs6677073	0.83[EUR][1000 genomes]
rs726427	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7523023	0.81[EUR][1000 genomes]
rs7525074	0.80[EUR][1000 genomes]
rs861578	0.90[ASN][1000 genomes]
rs861581	0.87[ASN][1000 genomes]
rs9425341	0.81[EUR][1000 genomes]
rs9425633	0.82[EUR][1000 genomes]
rs9425634	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9425635	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9658937	0.82[EUR][1000 genomes]
rs9661314	0.82[EUR][1000 genomes]
rs971080	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9787132	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2024764	EDEM3	cis	Esophagus Muscularis	GTEx
rs2024764	EDEM3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184649400-184662800	Weak transcription	Osteobl	bone
3	chr1:184652200-184655000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:184652800-184653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:184653400-184654200	Enhancers	Colon Smooth Muscle	Colon
7	chr1:184653400-184654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:184653400-184654400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:184653400-184654800	Enhancers	Fetal Lung	lung

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