Variant report

Variant	rs12298909
Chromosome Location	chr12:46962479-46962480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46750303..46751905-chr12:46962161..46964457,2	K562	blood:
2	chr12:46764628..46766853-chr12:46959111..46963000,4	K562	blood:
3	chr12:46765738..46767413-chr12:46961287..46963131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11183535	1.00[AMR][1000 genomes]
rs11183558	1.00[AMR][1000 genomes]
rs11504525	1.00[AMR][1000 genomes]
rs11504526	1.00[AMR][1000 genomes]
rs12297833	1.00[AMR][1000 genomes]
rs12304575	1.00[AMR][1000 genomes]
rs12304806	1.00[AMR][1000 genomes]
rs12304865	1.00[AMR][1000 genomes]
rs12305342	1.00[AMR][1000 genomes]
rs12305992	1.00[AMR][1000 genomes]
rs12307390	1.00[AMR][1000 genomes]
rs12315001	1.00[AMR][1000 genomes]
rs12316510	1.00[AMR][1000 genomes]
rs12317112	1.00[AMR][1000 genomes]
rs12318411	1.00[AMR][1000 genomes]
rs12319423	1.00[AMR][1000 genomes]
rs12320033	1.00[AMR][1000 genomes]
rs60258688	1.00[AMR][1000 genomes]
rs73282116	1.00[AMR][1000 genomes]
rs73293966	1.00[AMR][1000 genomes]
rs73293979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46956800-46963400	Weak transcription	Aorta	Aorta
2	chr12:46957000-46962800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:46957000-46963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46957000-46964800	Weak transcription	NHDF-Ad	bronchial
5	chr12:46958200-46962800	Weak transcription	Hela-S3	cervix
6	chr12:46958400-46962800	Weak transcription	Gastric	stomach
7	chr12:46960400-46963800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:46961600-46963600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:46961600-46970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:46962000-46963400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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