Variant report

Variant	rs28451583
Chromosome Location	chr15:50566473-50566474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50562290..50565244-chr15:50565909..50567436,2	K562	blood:
2	chr15:50566343..50568625-chr15:50580791..50582388,2	MCF-7	breast:
3	chr15:50561224..50565664-chr15:50565813..50569433,4	MCF-7	breast:
4	chr15:50563105..50566724-chr15:50567713..50571020,4	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11070766	0.87[ASN][1000 genomes]
rs11070768	0.87[ASN][1000 genomes]
rs11629603	0.91[ASN][1000 genomes]
rs11630045	0.92[ASN][1000 genomes]
rs11630063	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11631197	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11631985	0.91[ASN][1000 genomes]
rs11632019	0.87[ASN][1000 genomes]
rs11632703	0.87[ASN][1000 genomes]
rs11635546	0.81[EUR][1000 genomes]
rs11636564	0.87[ASN][1000 genomes]
rs11636908	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11637901	0.91[ASN][1000 genomes]
rs11637975	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11638432	0.87[ASN][1000 genomes]
rs11638564	0.91[ASN][1000 genomes]
rs11639406	0.91[ASN][1000 genomes]
rs11852487	0.87[ASN][1000 genomes]
rs11853236	0.87[ASN][1000 genomes]
rs11855823	0.87[ASN][1000 genomes]
rs12440811	0.82[EUR][1000 genomes]
rs12902318	0.91[ASN][1000 genomes]
rs12904469	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12906304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908591	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12909337	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12910368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910586	0.87[ASN][1000 genomes]
rs12912679	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12912969	0.91[ASN][1000 genomes]
rs12923	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1645	0.91[ASN][1000 genomes]
rs16963604	0.87[ASN][1000 genomes]
rs16963612	0.87[ASN][1000 genomes]
rs17508371	0.92[ASN][1000 genomes]
rs1972700	0.83[ASN][1000 genomes]
rs2033115	0.91[ASN][1000 genomes]
rs2081628	0.91[ASN][1000 genomes]
rs28372114	0.87[ASN][1000 genomes]
rs28408662	0.91[ASN][1000 genomes]
rs28453939	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28531946	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28534445	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28609286	0.87[ASN][1000 genomes]
rs28669213	0.92[ASN][1000 genomes]
rs28688566	0.91[ASN][1000 genomes]
rs28690939	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28715646	0.91[ASN][1000 genomes]
rs28716586	0.91[ASN][1000 genomes]
rs28719982	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34143694	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34197276	0.87[ASN][1000 genomes]
rs34312018	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34405772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34590486	0.91[ASN][1000 genomes]
rs35000991	0.91[ASN][1000 genomes]
rs35013067	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35024305	0.87[ASN][1000 genomes]
rs35033384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35168369	0.91[ASN][1000 genomes]
rs35354250	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35446819	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35453213	0.95[ASN][1000 genomes]
rs4774559	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4775872	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775873	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4775874	0.87[ASN][1000 genomes]
rs4775875	0.87[ASN][1000 genomes]
rs4775876	0.87[ASN][1000 genomes]
rs4775877	0.91[ASN][1000 genomes]
rs526045	0.91[ASN][1000 genomes]
rs526952	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62022571	0.80[ASN][1000 genomes]
rs6493429	0.82[ASN][1000 genomes]
rs7163457	0.91[ASN][1000 genomes]
rs7164375	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7164377	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7164798	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7173127	0.92[ASN][1000 genomes]
rs7175150	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7176792	0.96[ASN][1000 genomes]
rs7183422	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73399285	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8024514	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8025367	0.91[ASN][1000 genomes]
rs8026571	0.91[ASN][1000 genomes]
rs8027367	0.91[ASN][1000 genomes]
rs8030952	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8034597	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034615	0.91[ASN][1000 genomes]
rs8036354	0.84[ASN][1000 genomes]
rs8042053	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8043475	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50555400-50579400	Weak transcription	K562	blood
2	chr15:50558000-50572400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:50558600-50569800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:50564000-50568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50564000-50574400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:50564200-50572400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50564600-50569600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:50566000-50576200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:50566000-50580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:50566400-50568000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:50566400-50576400	Weak transcription	HUVEC	blood vessel

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