Variant report

Variant	rs454218
Chromosome Location	chr19:44475671-44475672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164273	0.89[ASN][1000 genomes]
rs10164282	0.89[ASN][1000 genomes]
rs11666551	0.89[ASN][1000 genomes]
rs11668687	0.89[ASN][1000 genomes]
rs11669568	0.83[EUR][1000 genomes]
rs11669702	0.89[ASN][1000 genomes]
rs11670342	0.89[ASN][1000 genomes]
rs11670772	0.83[EUR][1000 genomes]
rs11671384	0.89[ASN][1000 genomes]
rs11672879	0.85[EUR][1000 genomes]
rs11673170	0.87[ASN][1000 genomes]
rs12185486	0.89[ASN][1000 genomes]
rs2284242	0.82[ASN][1000 genomes]
rs36044624	0.84[EUR][1000 genomes]
rs365745	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366111	0.89[ASN][1000 genomes]
rs367358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392160	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs415913	0.83[EUR][1000 genomes]
rs425200	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439676	0.90[AFR][1000 genomes]
rs441794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442679	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445265	0.83[EUR][1000 genomes]
rs452238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55750317	0.84[EUR][1000 genomes]
rs58591332	0.89[EUR][1000 genomes]
rs612663	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61734609	0.89[ASN][1000 genomes]
rs73035922	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73038560	0.82[ASN][1000 genomes]
rs73038602	0.80[ASN][1000 genomes]
rs73050193	0.89[ASN][1000 genomes]
rs73050195	0.89[ASN][1000 genomes]
rs73051806	0.86[ASN][1000 genomes]
rs73051810	0.89[ASN][1000 genomes]
rs73051815	0.89[ASN][1000 genomes]
rs73051825	0.89[ASN][1000 genomes]
rs73051828	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
4	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
6	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:44463400-44476400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:44464400-44475800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:44466400-44476200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr19:44466400-44480000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:44466800-44476600	ZNF genes & repeats	Colon Smooth Muscle	Colon
13	chr19:44468800-44476200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr19:44474800-44487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:44475000-44477600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:44475200-44476800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:44475600-44475800	Weak transcription	Fetal Heart	heart

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