Variant report

Variant	rs539130812
Chromosome Location	chr5:124284932-124284933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124277456..124281279-chr5:124283449..124286238,3	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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124283200-124286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124283400-124285000	Enhancers	Fetal Kidney	kidney
3	chr5:124283400-124285600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:124283600-124285000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:124283600-124285000	Enhancers	Dnd41	blood
6	chr5:124283600-124285000	Enhancers	HUVEC	blood vessel
7	chr5:124283800-124285000	Enhancers	Fetal Lung	lung
8	chr5:124283800-124285800	Enhancers	HMEC	breast
9	chr5:124283800-124286200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:124284000-124285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:124284000-124285400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:124284000-124285600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:124284000-124285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:124284000-124285600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:124284000-124285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:124284000-124285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:124284000-124286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:124284000-124286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:124284200-124285000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:124284200-124285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:124284200-124285000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:124284200-124286000	Enhancers	Fetal Heart	heart
23	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:124284600-124285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:124284800-124285400	Enhancers	Adipose Nuclei	Adipose
26	chr5:124284800-124294000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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