Variant report

Variant	rs12304865
Chromosome Location	chr12:47009539-47009540
allele	A/T
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: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183558	1.00[AMR][1000 genomes]
rs11504525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504526	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297833	1.00[AMR][1000 genomes]
rs12298909	1.00[AMR][1000 genomes]
rs12304575	1.00[AMR][1000 genomes]
rs12304806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305342	0.92[AFR][1000 genomes];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[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318411	1.00[YRI][hapmap];0.92[AFR][1000 genomes];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: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	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
4	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
5	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
6	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:12 , 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	chr12:47004000-47010000	Weak transcription	NHLF	lung
6	chr12:47004000-47010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
8	chr12:47007200-47010000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:47007200-47011600	Weak transcription	Left Ventricle	heart
10	chr12:47008600-47011200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:47009000-47010000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr12:47009200-47013000	Weak transcription	Liver	Liver

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