Variant report

Variant	rs12318364
Chromosome Location	chr12:47043174-47043175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47038721..47040815-chr12:47042346..47044078,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183541	0.90[ASN][1000 genomes]
rs1118657	1.00[ASN][1000 genomes]
rs1118658	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11504533	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12296535	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12302091	0.90[ASN][1000 genomes]
rs12303838	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12306495	0.98[ASN][1000 genomes]
rs12307183	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12311537	0.98[ASN][1000 genomes]
rs12321468	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1895088	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57964461	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58190601	0.90[ASN][1000 genomes]
rs60053128	0.98[ASN][1000 genomes]
rs60487001	0.96[ASN][1000 genomes]
rs61562961	0.90[ASN][1000 genomes]
rs73293953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs759702	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs759703	0.90[ASN][1000 genomes]
rs9669366	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47036800-47051400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47041000-47044200	Weak transcription	HUVEC	blood vessel
3	chr12:47041000-47054200	Weak transcription	Fetal Kidney	kidney
4	chr12:47042200-47045600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:47042200-47051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:47042200-47054800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:47042600-47048400	Weak transcription	H9 Cell Line	embryonic stem cell

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