Variant report

Variant	rs531239403
Chromosome Location	chr5:128301272-128301273
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128300400-128301400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:128300400-128301600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:128300400-128301800	Active TSS	Brain Substantia Nigra	brain
8	chr5:128300400-128301800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:128300400-128302000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:128300400-128302000	Active TSS	K562	blood
11	chr5:128300400-128302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:128300600-128301400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:128300600-128301400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
18	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr5:128300600-128301400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:128300600-128301400	Active TSS	Brain Angular Gyrus	brain
22	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr5:128300600-128301400	Bivalent Enhancer	Fetal Brain Male	brain
24	chr5:128300600-128301400	Bivalent/Poised TSS	Fetal Lung	lung
25	chr5:128300600-128301400	Active TSS	Psoas Muscle	Psoas
26	chr5:128300600-128301400	Bivalent/Poised TSS	A549	lung
27	chr5:128300600-128301600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:128300600-128301600	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:128300600-128301600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:128300600-128301600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr5:128300600-128301600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr5:128300600-128301600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr5:128300600-128301600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr5:128300600-128301600	Enhancers	Spleen	Spleen
35	chr5:128300600-128301800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:128300600-128301800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:128300600-128301800	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr5:128300600-128302000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:128300600-128302000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr5:128300600-128302000	Active TSS	Thymus	Thymus
41	chr5:128300600-128302200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr5:128300600-128302400	Active TSS	Ovary	ovary
43	chr5:128300600-128303000	Active TSS	Left Ventricle	heart
44	chr5:128300600-128303200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:128300600-128303200	Active TSS	Right Atrium	heart
46	chr5:128300600-128303600	Active TSS	Right Ventricle	heart
47	chr5:128300800-128301400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:128300800-128301400	Enhancers	Liver	Liver
49	chr5:128300800-128301400	Active TSS	Fetal Kidney	kidney
50	chr5:128300800-128301400	Active TSS	Rectal Smooth Muscle	rectum

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