Variant report

Variant	rs547531996
Chromosome Location	chr5:112479799-112479800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112476798..112478381-chr5:112478430..112480202,2	MCF-7	breast:

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv599400	chr5:112477948-112479902	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv1850895	chr5:112479748-112481426	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
4	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:112476800-112479800	Weak transcription	Right Ventricle	heart
6	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:112477400-112481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:112477400-112482600	Weak transcription	NHLF	lung
13	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
15	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
17	chr5:112477600-112481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
25	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
26	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:112478200-112480600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112478200-112480800	Weak transcription	Esophagus	oesophagus
29	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
30	chr5:112478400-112480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
32	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:112478600-112480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:112478600-112481600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:112478600-112481600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:112478600-112481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:112478600-112481800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:112478600-112482000	Weak transcription	Osteobl	bone
39	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:112478800-112480200	Weak transcription	Ovary	ovary
41	chr5:112478800-112480600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:112478800-112480600	Weak transcription	HMEC	breast
43	chr5:112478800-112480600	Weak transcription	NHEK	skin
44	chr5:112478800-112482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:112479200-112485200	Weak transcription	Liver	Liver
47	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
48	chr5:112479400-112479800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:112479600-112481000	Weak transcription	Primary T cells from cord blood	blood

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