Variant report

Variant	rs16999732
Chromosome Location	chr20:53132139-53132140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53131931..53132565-chr20:53263125..53264081,2	MCF-7	breast:
2	chr20:53131557..53134721-chr20:53135286..53138375,3	MCF-7	breast:
3	chr20:53094603..53097316-chr20:53132108..53133984,2	MCF-7	breast:
4	chr20:53131035..53133953-chr20:53146900..53149514,3	MCF-7	breast:
5	chr20:53131011..53133856-chr20:53139491..53142546,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10485786	0.88[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16999731	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16999736	0.89[ASW][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2426520	1.00[EUR][1000 genomes]
rs2426521	0.88[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2426522	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2426530	0.89[JPT][hapmap]
rs2426531	0.89[JPT][hapmap]
rs2426535	0.91[AMR][1000 genomes]
rs2426536	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs56977264	1.00[EUR][1000 genomes]
rs57402636	0.80[AMR][1000 genomes]
rs57927391	1.00[EUR][1000 genomes]
rs6014025	1.00[EUR][1000 genomes]
rs60215168	1.00[EUR][1000 genomes]
rs6023260	1.00[EUR][1000 genomes]
rs6023271	1.00[EUR][1000 genomes]
rs6091884	1.00[EUR][1000 genomes]
rs6091909	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097991	1.00[EUR][1000 genomes]
rs6097995	1.00[EUR][1000 genomes]
rs6098064	1.00[JPT][hapmap]
rs61495423	1.00[EUR][1000 genomes]
rs62214388	1.00[EUR][1000 genomes]
rs726770	1.00[JPT][hapmap]
rs7272302	1.00[JPT][hapmap]
rs7274532	0.89[JPT][hapmap]
rs73276924	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs793039	1.00[EUR][1000 genomes]
rs8126261	0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53111200-53132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr20:53118800-53132600	Weak transcription	NHDF-Ad	bronchial
3	chr20:53119600-53137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
5	chr20:53127800-53132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:53127800-53133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:53128600-53142800	Weak transcription	Psoas Muscle	Psoas
8	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
9	chr20:53130600-53132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:53130600-53133000	Enhancers	Fetal Brain Female	brain
11	chr20:53130600-53134600	Enhancers	Fetal Brain Male	brain
12	chr20:53130800-53132400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:53131400-53132200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr20:53131400-53132200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr20:53131400-53133000	Weak transcription	Fetal Kidney	kidney
16	chr20:53131400-53133600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:53131400-53140400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:53131400-53140800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:53132000-53132200	Enhancers	Brain Anterior Caudate	brain
20	chr20:53132000-53132600	Enhancers	Cortex derived primary cultured neurospheres	brain

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