Variant report

Variant	rs545042401
Chromosome Location	chr5:128301623-128301624
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	chr5:128301330..128303294-chr5:128429299..128431386,3	K562	blood:
2	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

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	nsv882839	chr5:128205828-128390167	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv819884	chr5:128301059-128303254	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:128300400-128301800	Active TSS	Brain Substantia Nigra	brain
4	chr5:128300400-128301800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:128300400-128302000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:128300400-128302000	Active TSS	K562	blood
7	chr5:128300400-128302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:128300600-128301800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:128300600-128301800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:128300600-128301800	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr5:128300600-128302000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:128300600-128302000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:128300600-128302000	Active TSS	Thymus	Thymus
17	chr5:128300600-128302200	Active TSS	Placenta Amnion	Placenta Amnion
18	chr5:128300600-128302400	Active TSS	Ovary	ovary
19	chr5:128300600-128303000	Active TSS	Left Ventricle	heart
20	chr5:128300600-128303200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:128300600-128303200	Active TSS	Right Atrium	heart
22	chr5:128300600-128303600	Active TSS	Right Ventricle	heart
23	chr5:128300800-128301800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr5:128300800-128301800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:128300800-128302000	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr5:128300800-128302200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:128301000-128301800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr5:128301000-128301800	Active TSS	Gastric	stomach
29	chr5:128301200-128301800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:128301200-128301800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:128301200-128301800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr5:128301200-128302000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr5:128301200-128302000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr5:128301400-128301800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr5:128301400-128301800	Flanking Active TSS	Esophagus	oesophagus
36	chr5:128301400-128301800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr5:128301400-128302000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:128301400-128302400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:128301400-128302600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:128301600-128301800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:128301600-128301800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr5:128301600-128301800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr5:128301600-128301800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:128301600-128301800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:128301600-128301800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr5:128301600-128301800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:128301600-128301800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:128301600-128301800	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr5:128301600-128301800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr5:128301600-128301800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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