Variant report

Variant	rs543597724
Chromosome Location	chr12:117098563-117098564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	esv3357908	chr12:117097394-117099942	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
3	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
4	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:117096800-117099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
18	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:117096800-117100400	Weak transcription	HSMM	muscle
22	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:117097000-117099800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:117097000-117099800	Weak transcription	Fetal Lung	lung
25	chr12:117097000-117100000	Weak transcription	Fetal Brain Female	brain
26	chr12:117097000-117100000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:117097000-117100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:117097000-117100200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:117097000-117100200	Weak transcription	HSMMtube	muscle
30	chr12:117097000-117100400	Weak transcription	Esophagus	oesophagus
31	chr12:117097000-117100400	Enhancers	Pancreas	Pancrea
32	chr12:117097200-117099800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:117097800-117099400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:117097800-117100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:117098000-117098800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:117098000-117099400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:117098000-117100400	Weak transcription	Thymus	Thymus
38	chr12:117098000-117101200	Enhancers	Lung	lung
39	chr12:117098200-117099200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:117098200-117099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:117098200-117099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:117098200-117099800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:117098200-117099800	Weak transcription	Ovary	ovary
44	chr12:117098200-117100000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:117098200-117100000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:117098200-117100200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:117098200-117100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:117098200-117100200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:117098200-117100200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:117098200-117100200	Weak transcription	Gastric	stomach

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