Variant report

Variant	rs1473342
Chromosome Location	chr18:29183812-29183813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11081702	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11659687	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11662311	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11664321	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375445	0.90[EUR][1000 genomes]
rs1611949	0.84[EUR][1000 genomes]
rs1667239	0.90[EUR][1000 genomes]
rs1667254	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1667255	0.82[EUR][1000 genomes]
rs1667257	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667258	0.82[EUR][1000 genomes]
rs17660933	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17740847	0.90[ASN][1000 genomes]
rs1791198	0.82[EUR][1000 genomes]
rs1791199	0.82[EUR][1000 genomes]
rs1791200	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791201	0.84[EUR][1000 genomes]
rs1791229	0.84[EUR][1000 genomes]
rs2034404	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2420813	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3764476	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764478	0.92[ASN][1000 genomes]
rs3764479	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794884	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4799579	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4799583	0.84[EUR][1000 genomes]
rs4799585	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7235277	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs723744	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7238749	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs735329	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29179200-29186000	Weak transcription	Fetal Intestine Small	intestine
2	chr18:29180400-29185600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:29180800-29185400	Weak transcription	HepG2	liver
4	chr18:29180800-29191000	Weak transcription	Fetal Intestine Large	intestine
5	chr18:29182600-29184000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:29183000-29184000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:29183400-29184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:29183400-29184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:29183800-29184600	Strong transcription	Liver	Liver

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