Variant report

Variant	rs547518769
Chromosome Location	chr12:117562925-117562926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
3	esv3415031	chr12:117562369-117568367	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3428816	chr12:117562469-117568067	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3390043	chr12:117562869-117568067	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
2	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
3	chr12:117557400-117565800	Weak transcription	Gastric	stomach
4	chr12:117557600-117564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:117559000-117564800	Weak transcription	Right Ventricle	heart
6	chr12:117559800-117563000	Weak transcription	Fetal Brain Male	brain
7	chr12:117559800-117563000	Weak transcription	Fetal Brain Female	brain
8	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117560800-117563400	Enhancers	Fetal Heart	heart
11	chr12:117561400-117563200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:117561800-117563800	Enhancers	HepG2	liver
13	chr12:117562000-117563200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:117562000-117563800	Weak transcription	Brain Substantia Nigra	brain
15	chr12:117562200-117563000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:117562200-117563200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:117562200-117563400	Enhancers	Fetal Thymus	thymus
18	chr12:117562400-117563400	Enhancers	Dnd41	blood
19	chr12:117562400-117563800	Flanking Active TSS	Hela-S3	cervix
20	chr12:117562600-117563200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:117562600-117563200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117562600-117563400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:117562600-117563600	Weak transcription	Fetal Kidney	kidney
24	chr12:117562600-117563800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:117562800-117563200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:117562800-117563200	Enhancers	Thymus	Thymus
27	chr12:117562800-117563600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:117562800-117563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:117562800-117563600	Flanking Active TSS	A549	lung

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