Variant report

Variant	rs12368989
Chromosome Location	chr12:46743346-46743347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46661301..46664221-chr12:46741809..46743779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7965930	1.00[AFR][1000 genomes];0.96[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
3	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
4	chr12:46737600-46761200	Weak transcription	Gastric	stomach
5	chr12:46743000-46743600	Enhancers	Right Ventricle	heart
6	chr12:46743000-46743800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:46743000-46743800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:46743000-46743800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46743000-46743800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:46743000-46743800	Enhancers	Left Ventricle	heart
11	chr12:46743000-46743800	Enhancers	HUVEC	blood vessel
12	chr12:46743000-46744000	Enhancers	Spleen	Spleen
13	chr12:46743000-46744000	Enhancers	Dnd41	blood
14	chr12:46743200-46743400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:46743200-46743400	Enhancers	Brain Anterior Caudate	brain
16	chr12:46743200-46743600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:46743200-46743600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:46743200-46743600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:46743200-46743600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:46743200-46743800	Enhancers	Lung	lung
21	chr12:46743200-46743800	Enhancers	Right Atrium	heart
22	chr12:46743200-46743800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:46743200-46743800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:46743200-46744000	Enhancers	Primary T cells from cord blood	blood
25	chr12:46743200-46752600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:46743200-46753400	Weak transcription	H9 Cell Line	embryonic stem cell

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