Variant report

Variant	rs549131394
Chromosome Location	chr12:47225124-47225125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv899054	chr12:47224325-47280079	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47224000-47226400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:47224200-47225200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
3	chr12:47224200-47225200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
4	chr12:47224200-47225800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:47224200-47226000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47224200-47226400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:47224200-47226400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:47224400-47225600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:47224400-47225600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr12:47224400-47225600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:47224400-47225800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr12:47224400-47225800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr12:47224400-47225800	Enhancers	Lung	lung
14	chr12:47224400-47226000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47224400-47226000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr12:47224400-47226200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr12:47224600-47225200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:47224600-47225200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr12:47224600-47225200	Bivalent Enhancer	Placenta	Placenta
20	chr12:47224600-47225200	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr12:47224600-47225400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr12:47224600-47225400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:47224600-47225400	Bivalent Enhancer	Fetal Lung	lung
24	chr12:47224600-47225400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr12:47224600-47225600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:47224600-47225600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:47224600-47225600	Active TSS	Left Ventricle	heart
28	chr12:47224600-47225600	Bivalent/Poised TSS	NHLF	lung
29	chr12:47224600-47225800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:47224600-47225800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:47224600-47225800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:47224600-47225800	Active TSS	Esophagus	oesophagus
33	chr12:47224600-47225800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr12:47224600-47226000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:47224600-47226000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr12:47224600-47226000	Bivalent Enhancer	Fetal Brain Male	brain
37	chr12:47224600-47226000	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr12:47224600-47226000	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr12:47224600-47226000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr12:47224600-47226000	Active TSS	Psoas Muscle	Psoas
41	chr12:47224600-47226200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:47224600-47226200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:47224600-47226200	Active TSS	Right Atrium	heart
44	chr12:47224600-47226200	Active TSS	Right Ventricle	heart
45	chr12:47224800-47225200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:47224800-47225200	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr12:47224800-47225200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
48	chr12:47224800-47225200	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr12:47224800-47225400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
50	chr12:47224800-47225400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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