Variant report

Variant	rs567976466
Chromosome Location	chr5:112477946-112477947
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	chr5:112476798..112478381-chr5:112478430..112480202,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3402438	chr5:112477690-112478501	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3387546	chr5:112477719-112478456	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3499336	chr5:112477729-112478486	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3469717	chr5:112477737-112478478	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3469716	chr5:112477738-112478495	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3499337	chr5:112477746-112478401	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3499338	chr5:112477770-112478417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3499339	chr5:112477774-112478424	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv17160	chr5:112477787-112478379	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv599397	chr5:112477794-112478397	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3469715	chr5:112477814-112478371	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3499335	chr5:112477823-112478375	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3469719	chr5:112477828-112478370	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3499340	chr5:112477828-112478370	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv329870	chr5:112477831-112478369	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv599398	chr5:112477897-112478397	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv599399	chr5:112477897-112479004	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
4	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
5	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:112475600-112479200	Strong transcription	Liver	Liver
7	chr5:112475800-112479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:112476200-112478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:112476200-112478400	Enhancers	NHDF-Ad	bronchial
10	chr5:112476200-112479400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:112476400-112478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:112476400-112478000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:112476400-112478000	Enhancers	Left Ventricle	heart
14	chr5:112476400-112478200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112476400-112478200	Enhancers	HSMMtube	muscle
16	chr5:112476400-112478600	Enhancers	Osteobl	bone
17	chr5:112476600-112478000	Enhancers	Brain Hippocampus Middle	brain
18	chr5:112476600-112478000	Enhancers	NH-A	brain
19	chr5:112476600-112478600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:112476600-112478600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:112476600-112478800	Enhancers	HMEC	breast
22	chr5:112476600-112478800	Genic enhancers	NHEK	skin
23	chr5:112476800-112478000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112476800-112478400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:112476800-112478800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:112476800-112478800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:112476800-112478800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:112476800-112479800	Weak transcription	Right Ventricle	heart
29	chr5:112477000-112478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:112477400-112478000	Weak transcription	Esophagus	oesophagus
34	chr5:112477400-112478600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:112477400-112478600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:112477400-112481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:112477400-112482600	Weak transcription	NHLF	lung
40	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
42	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
44	chr5:112477600-112478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:112477600-112478800	Strong transcription	Ovary	ovary
46	chr5:112477600-112481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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