Variant report

Variant	rs2548271
Chromosome Location	chr5:100133827-100133828
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	chr5:100129066..100130718-chr5:100133106..100136007,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11958370	1.00[EUR][1000 genomes]
rs17161227	1.00[EUR][1000 genomes]
rs17161238	1.00[EUR][1000 genomes]
rs2544921	0.81[AFR][1000 genomes]
rs2548260	0.81[AFR][1000 genomes]
rs2561522	0.81[AFR][1000 genomes]
rs28704689	1.00[EUR][1000 genomes]
rs56789558	1.00[EUR][1000 genomes]
rs57030195	1.00[EUR][1000 genomes]
rs57051501	1.00[EUR][1000 genomes]
rs57093790	1.00[EUR][1000 genomes]
rs57165646	1.00[EUR][1000 genomes]
rs57408442	1.00[EUR][1000 genomes]
rs58460894	1.00[EUR][1000 genomes]
rs58571109	1.00[EUR][1000 genomes]
rs58972341	1.00[EUR][1000 genomes]
rs59107693	1.00[EUR][1000 genomes]
rs59522996	1.00[EUR][1000 genomes]
rs61509083	1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[EUR][1000 genomes]
rs73155148	1.00[EUR][1000 genomes]
rs73155161	1.00[EUR][1000 genomes]
rs73155163	1.00[EUR][1000 genomes]
rs73155169	1.00[EUR][1000 genomes]
rs73155170	1.00[EUR][1000 genomes]
rs73157721	1.00[EUR][1000 genomes]
rs73157724	1.00[EUR][1000 genomes]
rs73157726	1.00[EUR][1000 genomes]
rs73157755	1.00[EUR][1000 genomes]
rs73157793	1.00[EUR][1000 genomes]
rs73159945	1.00[EUR][1000 genomes]
rs73159969	1.00[EUR][1000 genomes]
rs73159973	1.00[EUR][1000 genomes]
rs73159981	1.00[EUR][1000 genomes]
rs73159982	1.00[EUR][1000 genomes]
rs73159986	1.00[EUR][1000 genomes]
rs73159988	1.00[EUR][1000 genomes]
rs73159991	1.00[EUR][1000 genomes]
rs73160414	1.00[EUR][1000 genomes]
rs73160421	1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162260	1.00[EUR][1000 genomes]
rs73162263	1.00[EUR][1000 genomes]
rs73162268	1.00[EUR][1000 genomes]
rs73162273	1.00[EUR][1000 genomes]
rs73162274	1.00[EUR][1000 genomes]
rs73162277	1.00[EUR][1000 genomes]
rs73162285	1.00[EUR][1000 genomes]
rs73162291	1.00[EUR][1000 genomes]
rs73162293	1.00[EUR][1000 genomes]
rs73162294	1.00[EUR][1000 genomes]
rs73162302	1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[EUR][1000 genomes]
rs73162447	1.00[EUR][1000 genomes]
rs73163618	1.00[EUR][1000 genomes]
rs73163629	1.00[EUR][1000 genomes]
rs73163634	1.00[EUR][1000 genomes]
rs73163646	1.00[EUR][1000 genomes]
rs73163652	1.00[EUR][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	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	esv2762532	chr5:100041758-100136552	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:100114000-100136400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:100133200-100134200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:100133200-100134200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:100133200-100134200	Enhancers	Hela-S3	cervix
5	chr5:100133200-100134200	Enhancers	NHEK	skin
6	chr5:100133400-100134000	Enhancers	NH-A	brain
7	chr5:100133400-100134200	Enhancers	HUVEC	blood vessel
8	chr5:100133600-100134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:100133800-100134400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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