Variant report

Variant	rs73214918
Chromosome Location	chr4:30877153-30877154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10517220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721929	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11722675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724608	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11725568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727832	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732061	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11734204	0.85[EUR][1000 genomes]
rs11929796	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939033	0.88[EUR][1000 genomes]
rs11945622	0.88[EUR][1000 genomes]
rs1447368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718569	0.83[ASN][1000 genomes]
rs17719504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393067	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884596	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813421	0.86[EUR][1000 genomes]
rs6817721	0.88[EUR][1000 genomes]
rs6818328	0.88[EUR][1000 genomes]
rs6825940	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6833448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837246	0.83[ASN][1000 genomes]
rs6839018	0.86[EUR][1000 genomes]
rs73213200	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73214903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214904	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214909	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73214928	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214930	0.88[EUR][1000 genomes]
rs73214938	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73214944	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73214947	0.85[EUR][1000 genomes]
rs73214950	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73214953	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73812667	0.86[EUR][1000 genomes]
rs7670614	0.83[ASN][1000 genomes]
rs7676204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:30868800-30879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:30868800-30886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:30870200-30879400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:30870800-30903200	Weak transcription	Fetal Lung	lung
6	chr4:30873000-30877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:30873200-30877400	Weak transcription	NHEK	skin
8	chr4:30873200-30879600	Weak transcription	Aorta	Aorta
9	chr4:30876800-30878000	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:30877000-30877600	Enhancers	Fetal Heart	heart
11	chr4:30877000-30877800	Enhancers	Colon Smooth Muscle	Colon
12	chr4:30877000-30878000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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