Variant report

Variant	rs4451816
Chromosome Location	chr12:117347186-117347187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:
2	chr12:117174912..117176575-chr12:117346883..117348986,2	MCF-7	breast:
3	chr12:117343212..117346799-chr12:117346816..117349796,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240100	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032528	0.80[EUR][1000 genomes]
rs1051879	0.89[AMR][1000 genomes]
rs11068246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes]
rs12308592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12316811	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12317604	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321592	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947122	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947131	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947209	0.89[AMR][1000 genomes]
rs16947233	0.89[AMR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes]
rs41364651	0.86[EUR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes]
rs59373313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes]
rs7133142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133609	0.89[AMR][1000 genomes]
rs7136880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305313	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395566	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395571	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395601	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963012	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117344600-117348200	Weak transcription	K562	blood
2	chr12:117345000-117348400	Weak transcription	Right Atrium	heart
3	chr12:117345400-117348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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