Variant report

Variant	rs2493745
Chromosome Location	chr9:18265130-18265131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

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	1.00[AMR][1000 genomes]
rs2265962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2493746	1.00[AMR][1000 genomes]
rs2585579	1.00[AMR][1000 genomes]
rs2791444	1.00[AMR][1000 genomes]
rs2809853	0.85[AFR][1000 genomes]
rs2809855	1.00[AMR][1000 genomes]
rs2819202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56137310	1.00[AMR][1000 genomes]
rs57035045	1.00[AMR][1000 genomes]
rs59895508	1.00[AMR][1000 genomes]
rs61086890	1.00[AMR][1000 genomes]
rs7028195	1.00[AMR][1000 genomes]
rs73422913	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:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv892680	chr9:18089614-18267185	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892682	chr9:18166112-18272700	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18256800-18265200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:18257000-18267200	Weak transcription	NHDF-Ad	bronchial
3	chr9:18261400-18266800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:18261600-18267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:18261800-18266200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:18262200-18267400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:18262400-18267400	Weak transcription	HMEC	breast
8	chr9:18262400-18268400	Weak transcription	NHEK	skin
9	chr9:18265000-18265200	Enhancers	Colon Smooth Muscle	Colon

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