Variant report

Variant	rs548572407
Chromosome Location	chr4:147056518-147056519
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147055908..147058873-chr4:147059749..147061908,2	K562	blood:
2	chr4:147055512..147057408-chr4:147060408..147062142,2	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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:147054600-147056600	Enhancers	Fetal Brain Male	brain
2	chr4:147055200-147056600	Enhancers	Fetal Brain Female	brain
3	chr4:147055200-147057400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:147055200-147057400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:147055400-147056600	Enhancers	HMEC	breast
6	chr4:147055400-147056800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:147055600-147056600	Enhancers	Esophagus	oesophagus
8	chr4:147055600-147056800	Enhancers	Brain Germinal Matrix	brain
9	chr4:147055600-147057200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:147055800-147056600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:147055800-147056600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:147055800-147056600	Enhancers	Osteobl	bone
13	chr4:147055800-147057400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:147055800-147057400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:147055800-147057600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:147055800-147058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:147055800-147058400	Enhancers	Adipose Nuclei	Adipose
18	chr4:147056000-147056600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:147056000-147056600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:147056000-147056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:147056000-147056600	Enhancers	Right Atrium	heart
22	chr4:147056000-147056800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:147056000-147057200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:147056200-147056600	Enhancers	Brain Anterior Caudate	brain
25	chr4:147056200-147057600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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