Variant report

Variant	rs576480688
Chromosome Location	chr12:117136838-117136839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116714346..116716168-chr12:117136403..117139329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv526125	chr12:117136787-117138832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117132000-117141200	Weak transcription	Lung	lung
2	chr12:117132200-117147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:117132400-117147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:117134200-117146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:117135000-117137800	Enhancers	Pancreas	Pancrea
6	chr12:117135200-117137000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:117135200-117137000	Enhancers	Fetal Heart	heart
8	chr12:117135200-117137600	Enhancers	Fetal Lung	lung
9	chr12:117135400-117137000	Enhancers	Liver	Liver
10	chr12:117135400-117137000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:117135400-117137000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:117135400-117137000	Enhancers	Stomach Mucosa	stomach
13	chr12:117135400-117138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117135600-117137000	Enhancers	Fetal Stomach	stomach
15	chr12:117135600-117141400	Weak transcription	Right Atrium	heart
16	chr12:117135600-117147000	Weak transcription	Gastric	stomach
17	chr12:117135800-117137400	Weak transcription	Placenta	Placenta
18	chr12:117135800-117146400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:117136400-117137000	Enhancers	Fetal Intestine Small	intestine
20	chr12:117136600-117145600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:117136600-117145600	Weak transcription	Right Ventricle	heart
22	chr12:117136600-117146600	Weak transcription	Ovary	ovary
23	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:117136800-117144800	Weak transcription	Fetal Thymus	thymus
26	chr12:117136800-117146400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:117136800-117146400	Weak transcription	Rectal Smooth Muscle	rectum

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