Variant report

Variant	rs2493746
Chromosome Location	chr9:18295461-18295462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10810959	1.00[AMR][1000 genomes]
rs1329723	1.00[AMR][1000 genomes]
rs1411152	1.00[AMR][1000 genomes]
rs1417038	1.00[AMR][1000 genomes]
rs1854548	1.00[AMR][1000 genomes]
rs2265843	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2265962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2493745	1.00[AMR][1000 genomes]
rs2585579	1.00[AMR][1000 genomes]
rs2791444	1.00[AMR][1000 genomes]
rs2809855	1.00[AMR][1000 genomes]
rs2819202	1.00[AMR][1000 genomes]
rs57035045	1.00[AMR][1000 genomes]
rs61086890	1.00[AMR][1000 genomes]
rs7028195	1.00[AMR][1000 genomes]
rs73424909	1.00[AMR][1000 genomes]
rs73424911	1.00[AMR][1000 genomes]
rs73426941	1.00[AMR][1000 genomes]
rs73426948	1.00[AMR][1000 genomes]
rs9407898	1.00[AMR][1000 genomes]
rs9407901	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1015972	chr9:18272700-18299446	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv892685	chr9:18273100-18302439	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv892686	chr9:18273100-18328341	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	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
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18293400-18298600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:18294000-18296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:18294600-18297000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:18294600-18297000	Weak transcription	Fetal Heart	heart
5	chr9:18294800-18296600	Weak transcription	HUVEC	blood vessel
6	chr9:18295000-18296800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:18295200-18296800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:18295200-18296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:18295400-18297400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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