Variant report

Variant	rs563500449
Chromosome Location	chr12:116985209-116985210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3451036	chr12:116983919-116985817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
2	chr12:116977600-116985400	Weak transcription	Placenta	Placenta
3	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
5	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
6	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:116980800-116985800	Weak transcription	Right Ventricle	heart
8	chr12:116980800-116985800	Weak transcription	NH-A	brain
9	chr12:116981000-116985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:116981000-116985800	Weak transcription	Fetal Kidney	kidney
11	chr12:116981200-116985400	Weak transcription	Fetal Thymus	thymus
12	chr12:116981600-116986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:116982000-116986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:116982400-116986000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:116982800-116985800	Weak transcription	Fetal Lung	lung
16	chr12:116983200-116985600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:116983200-116986800	Enhancers	K562	blood
18	chr12:116983400-116985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:116983600-116985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:116983600-116985800	Weak transcription	Ovary	ovary
21	chr12:116983600-116986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:116983800-116985600	Weak transcription	Fetal Brain Female	brain
23	chr12:116983800-116986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:116984000-116985600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:116984200-116985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:116984200-116985400	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:116984200-116986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:116984200-116996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:116984200-116997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:116984400-116985800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:116984800-116985600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:116984800-116985800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:116984800-116986800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:116984800-116986800	Enhancers	Fetal Muscle Leg	muscle
35	chr12:116985000-116986000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:116985000-116986000	Enhancers	Primary B cells from cord blood	blood
37	chr12:116985000-116986000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:116985000-116986800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:116985000-116987000	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:116985200-116985400	Enhancers	Colonic Mucosa	Colon
41	chr12:116985200-116985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:116985200-116985600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr12:116985200-116985800	Enhancers	GM12878-XiMat	blood
44	chr12:116985200-116986000	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:116985200-116986000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:116985200-116986400	Enhancers	Fetal Muscle Trunk	muscle
47	chr12:116985200-116986600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:116985200-116986600	Enhancers	Fetal Brain Male	brain

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