Variant report

Variant	rs7244719
Chromosome Location	chr18:28882630-28882631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28873035..28874705-chr18:28881375..28882997,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10163619	0.83[EUR][1000 genomes]
rs10164077	0.83[EUR][1000 genomes]
rs10438909	0.88[EUR][1000 genomes]
rs10438930	0.88[EUR][1000 genomes]
rs11081690	0.83[EUR][1000 genomes]
rs11081691	0.82[EUR][1000 genomes]
rs1154850	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1154851	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11660608	0.83[EUR][1000 genomes]
rs11661048	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11661104	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11663622	0.83[EUR][1000 genomes]
rs11663676	0.83[EUR][1000 genomes]
rs11663924	0.91[AMR][1000 genomes]
rs11872734	0.83[EUR][1000 genomes]
rs11873223	0.81[AMR][1000 genomes]
rs11873281	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11875510	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11875560	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11876962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607370	0.88[EUR][1000 genomes]
rs12962355	0.88[EUR][1000 genomes]
rs12963302	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12967407	0.83[EUR][1000 genomes]
rs1426310	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1426311	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1834582	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1895902	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2007149	0.83[EUR][1000 genomes]
rs2114269	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2162273	0.82[EUR][1000 genomes]
rs2199301	0.83[EUR][1000 genomes]
rs2219582	0.83[EUR][1000 genomes]
rs2219583	0.83[EUR][1000 genomes]
rs2901124	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2901125	0.83[EUR][1000 genomes]
rs34248946	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35223713	0.91[AMR][1000 genomes]
rs35257361	0.83[EUR][1000 genomes]
rs35382145	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4356544	0.88[EUR][1000 genomes]
rs4598984	0.82[AMR][1000 genomes]
rs55778425	0.90[AMR][1000 genomes]
rs55965644	0.91[AMR][1000 genomes]
rs56088904	0.87[AMR][1000 genomes]
rs62088675	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62090169	0.88[EUR][1000 genomes]
rs6506912	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6506915	0.88[EUR][1000 genomes]
rs6506916	0.88[EUR][1000 genomes]
rs7227412	0.91[AMR][1000 genomes]
rs7229763	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7229799	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230092	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7231346	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7231775	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7234662	0.88[EUR][1000 genomes]
rs7234854	0.88[EUR][1000 genomes]
rs7235354	0.88[EUR][1000 genomes]
rs7235951	0.83[EUR][1000 genomes]
rs7235975	0.83[EUR][1000 genomes]
rs7236225	0.83[EUR][1000 genomes]
rs7236309	0.88[EUR][1000 genomes]
rs7236370	0.83[EUR][1000 genomes]
rs7237370	0.82[EUR][1000 genomes]
rs7237383	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7237419	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7241874	0.91[AMR][1000 genomes]
rs7245063	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs765054	0.83[EUR][1000 genomes]
rs8087410	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8087621	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8088418	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8091151	0.83[EUR][1000 genomes]
rs8091579	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8091847	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8091934	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8092044	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9944661	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9947296	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9947444	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9950209	0.83[EUR][1000 genomes]
rs9950622	0.83[EUR][1000 genomes]
rs9952617	0.85[EUR][1000 genomes]
rs9953981	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9953985	0.83[EUR][1000 genomes]
rs9954315	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9955239	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9955289	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9956026	0.83[EUR][1000 genomes]
rs9959406	0.88[EUR][1000 genomes]
rs9962740	0.83[EUR][1000 genomes]
rs9966267	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9967293	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28880400-28884600	Enhancers	HMEC	breast
3	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:28880600-28885200	Enhancers	NHEK	skin
6	chr18:28880800-28883600	Weak transcription	Placenta	Placenta
7	chr18:28881000-28883000	Enhancers	Fetal Intestine Large	intestine
8	chr18:28881600-28883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:28881600-28883400	Weak transcription	Fetal Intestine Small	intestine
10	chr18:28882000-28883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:28882000-28883200	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:28882000-28883600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:28882000-28883600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:28882000-28883600	Weak transcription	Left Ventricle	heart
15	chr18:28882000-28883600	Weak transcription	NH-A	brain
16	chr18:28882000-28884800	Enhancers	HUVEC	blood vessel
17	chr18:28882400-28882800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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