Variant report

Variant	rs576148550
Chromosome Location	chr5:112666466-112666467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112541156..112542138-chr5:112665995..112666868,4	MCF-7	breast:
2	chr5:112331438..112332505-chr5:112665779..112666817,4	MCF-7	breast:
3	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
4	chr5:112426149..112427047-chr5:112665549..112666859,5	MCF-7	breast:
5	chr5:112665963..112666847-chr5:112846245..112846895,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3450839	chr5:112666347-112666927	Enhancers Weak transcription Flanking Active TSS 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	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112656600-112666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112658000-112666600	Weak transcription	Left Ventricle	heart
6	chr5:112665400-112667200	Flanking Active TSS	Liver	Liver
7	chr5:112665400-112667200	Enhancers	Dnd41	blood
8	chr5:112665600-112667200	Enhancers	Fetal Brain Female	brain
9	chr5:112665800-112666800	Enhancers	Primary T cells from cord blood	blood
10	chr5:112665800-112667000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:112665800-112667000	Enhancers	Fetal Heart	heart
12	chr5:112666000-112666600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:112666000-112666600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:112666000-112666600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr5:112666000-112666600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:112666000-112666600	Enhancers	HSMM	muscle
17	chr5:112666000-112666800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:112666000-112666800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:112666000-112667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:112666000-112667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:112666000-112667200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:112666000-112667200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:112666000-112667200	Enhancers	HUVEC	blood vessel
24	chr5:112666200-112666600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:112666200-112666600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:112666200-112666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:112666200-112666800	Enhancers	Fetal Brain Male	brain
28	chr5:112666200-112667000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:112666200-112667000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:112666200-112667000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:112666200-112667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:112666200-112667000	Enhancers	Brain Germinal Matrix	brain
33	chr5:112666200-112667000	Enhancers	Fetal Muscle Leg	muscle
34	chr5:112666200-112667000	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:112666200-112667000	Enhancers	Hela-S3	cervix
36	chr5:112666200-112667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:112666200-112667200	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:112666200-112667200	Enhancers	Adipose Nuclei	Adipose
39	chr5:112666200-112667200	Enhancers	HMEC	breast
40	chr5:112666200-112667200	Enhancers	NH-A	brain
41	chr5:112666200-112667200	Enhancers	Osteobl	bone
42	chr5:112666200-112668000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:112666400-112667000	Enhancers	Brain Hippocampus Middle	brain
44	chr5:112666400-112667000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr5:112666400-112667200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112666400-112667200	Flanking Active TSS	HSMMtube	muscle
47	chr5:112666400-112667200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:112666400-112667200	Enhancers	NHDF-Ad	bronchial
49	chr5:112666400-112668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112666400-112670600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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