Variant report

Variant	rs543462480
Chromosome Location	chr5:178293114-178293115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178152146..178155385-chr5:178293103..178294784,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv462574	chr5:178269682-178313078	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv600463	chr5:178269682-178313078	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv823352	chr5:178279625-178296623	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv964987	chr5:178293067-178293567	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178287600-178294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:178287600-178296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178287600-178302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178287800-178293200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:178288200-178295000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:178288200-178317400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr5:178288400-178295000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr5:178288400-178295200	ZNF genes & repeats	A549	lung
9	chr5:178288400-178299200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:178288600-178293200	Weak transcription	HUVEC	blood vessel
11	chr5:178288600-178299400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:178288800-178293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:178288800-178294800	Strong transcription	HSMM	muscle
14	chr5:178288800-178296000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:178288800-178297600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:178288800-178300000	Strong transcription	Fetal Lung	lung
17	chr5:178288800-178302200	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:178288800-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:178289000-178293600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:178289000-178295000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:178289000-178297000	Strong transcription	Fetal Stomach	stomach
22	chr5:178289000-178297400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:178289000-178297400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:178289000-178299600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:178289000-178301000	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:178289000-178301600	Weak transcription	Stomach Mucosa	stomach
27	chr5:178289200-178299000	Strong transcription	Fetal Brain Female	brain
28	chr5:178289400-178293600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:178289400-178302200	Strong transcription	Brain Anterior Caudate	brain
30	chr5:178289600-178294800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:178289600-178295400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:178289600-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:178289800-178297200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:178289800-178297600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:178289800-178299000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178289800-178300200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:178289800-178300200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr5:178290000-178293400	Weak transcription	Right Ventricle	heart
39	chr5:178290000-178293800	Strong transcription	Primary B cells from cord blood	blood
40	chr5:178290000-178294200	Strong transcription	Hela-S3	cervix
41	chr5:178290000-178299400	Weak transcription	Fetal Heart	heart
42	chr5:178290000-178302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:178290200-178297800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:178290600-178293200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:178290600-178295200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:178290600-178298600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:178290600-178298600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:178290600-178299000	Weak transcription	Fetal Brain Male	brain
49	chr5:178290600-178299600	Strong transcription	Brain Germinal Matrix	brain
50	chr5:178290600-178299800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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