Variant report

Variant	rs2226019
Chromosome Location	chr9:18350033-18350034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10113897	0.86[EUR][1000 genomes]
rs10115400	0.91[EUR][1000 genomes]
rs10119710	0.85[EUR][1000 genomes]
rs10125689	0.86[EUR][1000 genomes]
rs10810954	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10810955	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10810956	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12339435	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12349149	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12555902	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1329724	0.94[ASN][1000 genomes]
rs1340047	0.94[ASN][1000 genomes]
rs2226017	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2226020	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35016784	0.82[EUR][1000 genomes]
rs4007665	0.90[AFR][1000 genomes]
rs4382567	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4395986	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4526458	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4554575	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4606157	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4961461	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4961633	0.84[EUR][1000 genomes]
rs4961634	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4961639	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4961640	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4961641	0.94[ASN][1000 genomes]
rs7023268	0.94[ASN][1000 genomes]
rs7023546	0.89[EUR][1000 genomes]
rs7024310	0.81[EUR][1000 genomes]
rs9298791	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18333400-18368200	Weak transcription	Aorta	Aorta
2	chr9:18346600-18362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:18346800-18351800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:18347600-18360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:18348000-18354400	Weak transcription	HSMMtube	muscle
6	chr9:18348200-18357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:18348400-18352800	Weak transcription	Fetal Heart	heart
8	chr9:18349400-18351600	Weak transcription	Fetal Kidney	kidney
9	chr9:18349600-18350400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:18349600-18350400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18350000-18350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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