Variant report

Variant	rs551750942
Chromosome Location	chr4:48189847-48189848
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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
2	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
6	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:48188600-48196000	Weak transcription	Lung	lung
10	chr4:48189400-48190200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:48189400-48190400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr4:48189600-48190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:48189600-48190200	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:48189600-48190200	Enhancers	Adipose Nuclei	Adipose
15	chr4:48189600-48190200	Enhancers	Fetal Intestine Large	intestine
16	chr4:48189600-48190400	Enhancers	K562	blood
17	chr4:48189600-48190400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:48189600-48190600	Enhancers	Fetal Heart	heart
19	chr4:48189800-48190000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:48189800-48190200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:48189800-48190200	Enhancers	Right Atrium	heart
22	chr4:48189800-48190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:48189800-48190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:48189800-48190800	Flanking Active TSS	GM12878-XiMat	blood
25	chr4:48189800-48191200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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