Variant report

Variant	rs562834133
Chromosome Location	chr12:117472408-117472409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117470652..117475607-chr12:117477009..117480553,6	K562	blood:
2	chr12:117470409..117472666-chr12:117473842..117475716,2	MCF-7	breast:
3	chr12:117465370..117468011-chr12:117469598..117472527,2	K562	blood:
4	chr12:117461681..117464080-chr12:117470751..117473024,2	MCF-7	breast:
5	chr12:117468241..117470806-chr12:117471546..117474082,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117466200-117474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:117466400-117473800	Weak transcription	Aorta	Aorta
5	chr12:117466400-117475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:117466600-117479800	Weak transcription	Hela-S3	cervix
7	chr12:117467000-117475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:117467000-117479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:117467200-117475400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:117468200-117477000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:117468600-117477400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:117469200-117474800	Weak transcription	Lung	lung
14	chr12:117469800-117474600	Enhancers	Fetal Heart	heart
15	chr12:117470200-117472600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:117470400-117476800	Enhancers	Stomach Mucosa	stomach
17	chr12:117470600-117472600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr12:117470600-117473000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr12:117470800-117472600	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr12:117470800-117472800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr12:117470800-117472800	Enhancers	Right Ventricle	heart
22	chr12:117470800-117474600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:117470800-117474800	Enhancers	Left Ventricle	heart
24	chr12:117470800-117476400	Strong transcription	Dnd41	blood
25	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:117471200-117472600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr12:117471200-117482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:117471400-117472600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117471400-117472600	Enhancers	Ovary	ovary
30	chr12:117471400-117473600	Weak transcription	Thymus	Thymus
31	chr12:117471400-117479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:117471600-117472600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
33	chr12:117471600-117473200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:117471600-117474200	Strong transcription	HepG2	liver
35	chr12:117471600-117475200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:117471600-117480200	Weak transcription	Esophagus	oesophagus
37	chr12:117471600-117482600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:117471800-117473000	Bivalent Enhancer	Fetal Brain Female	brain
39	chr12:117471800-117473000	Enhancers	K562	blood
40	chr12:117471800-117473400	Enhancers	Brain Germinal Matrix	brain
41	chr12:117471800-117474400	Weak transcription	Spleen	Spleen
42	chr12:117471800-117477200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:117471800-117477400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:117472000-117473400	Genic enhancers	Pancreas	Pancrea
45	chr12:117472000-117474000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:117472000-117475400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:117472000-117482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:117472200-117472600	Bivalent Enhancer	Brain Angular Gyrus	brain
49	chr12:117472200-117472600	Enhancers	Fetal Thymus	thymus
50	chr12:117472200-117472600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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