Variant report

Variant	rs1986154
Chromosome Location	chr12:47007919-47007920
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46657106..46659743-chr12:47006995..47009851,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11183519	0.84[ASN][1000 genomes]
rs12311952	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12318944	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12579010	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12579419	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12579984	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12580176	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12581743	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17097079	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17097091	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1946174	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2160892	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2408616	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2897979	0.84[ASN][1000 genomes]
rs4351902	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4768126	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768738	1.00[ASN][1000 genomes]
rs4768740	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4768747	0.84[ASN][1000 genomes]
rs57616927	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58806862	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59408501	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7132144	0.80[AMR][1000 genomes]
rs7133051	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310614	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7311414	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7315740	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73282105	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73282110	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7959179	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7976531	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7976785	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46998400-47010000	Weak transcription	Gastric	stomach
2	chr12:47003000-47012000	Weak transcription	Psoas Muscle	Psoas
3	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47003200-47025600	Weak transcription	NHEK	skin
5	chr12:47003800-47008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:47004000-47008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47004000-47008800	Weak transcription	Liver	Liver
8	chr12:47004000-47010000	Weak transcription	NHLF	lung
9	chr12:47004000-47010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
11	chr12:47006800-47008800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:47007200-47010000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:47007200-47011600	Weak transcription	Left Ventricle	heart

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