Variant report

Variant	rs556847455
Chromosome Location	chr12:117562386-117562387
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	chr12:117560289..117562463-chr12:117565995..117568462,3	K562	blood:

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	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

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	chr12:117553400-117562600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117557400-117562600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:117557400-117562800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:117557400-117565800	Weak transcription	Gastric	stomach
7	chr12:117557600-117564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:117557800-117562400	Weak transcription	Dnd41	blood
9	chr12:117559000-117564800	Weak transcription	Right Ventricle	heart
10	chr12:117559800-117562400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:117559800-117563000	Weak transcription	Fetal Brain Male	brain
12	chr12:117559800-117563000	Weak transcription	Fetal Brain Female	brain
13	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
14	chr12:117560000-117562400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:117560000-117562600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:117560800-117563400	Enhancers	Fetal Heart	heart
18	chr12:117561400-117563200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117561600-117562600	Weak transcription	Right Atrium	heart
20	chr12:117561800-117562400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:117561800-117562600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:117561800-117562800	Enhancers	A549	lung
23	chr12:117561800-117563800	Enhancers	HepG2	liver
24	chr12:117562000-117563200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:117562000-117563800	Weak transcription	Brain Substantia Nigra	brain
26	chr12:117562200-117562400	Enhancers	Hela-S3	cervix
27	chr12:117562200-117563000	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:117562200-117563200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:117562200-117563400	Enhancers	Fetal Thymus	thymus

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