Variant report

Variant	rs138070642
Chromosome Location	chr5:112667123-112667124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3469723	chr5:112666705-112672427	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3469721	chr5:112666751-112672404	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3469720	chr5:112666776-112672352	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3469722	chr5:112666822-112672321	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3469724	chr5:112666836-112672320	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv19580	chr5:112666841-112672251	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	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	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
2	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112665400-112667200	Flanking Active TSS	Liver	Liver
4	chr5:112665400-112667200	Enhancers	Dnd41	blood
5	chr5:112665600-112667200	Enhancers	Fetal Brain Female	brain
6	chr5:112666000-112667200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:112666000-112667200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:112666000-112667200	Enhancers	HUVEC	blood vessel
9	chr5:112666200-112667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:112666200-112667200	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:112666200-112667200	Enhancers	Adipose Nuclei	Adipose
12	chr5:112666200-112667200	Enhancers	HMEC	breast
13	chr5:112666200-112667200	Enhancers	NH-A	brain
14	chr5:112666200-112667200	Enhancers	Osteobl	bone
15	chr5:112666200-112668000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:112666400-112667200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112666400-112667200	Flanking Active TSS	HSMMtube	muscle
18	chr5:112666400-112667200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:112666400-112667200	Enhancers	NHDF-Ad	bronchial
20	chr5:112666400-112668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112666400-112670600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:112666400-112670600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:112666600-112667200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:112666600-112667200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112666600-112667200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:112666600-112667200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:112666600-112667200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:112666600-112667200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:112666600-112667200	Enhancers	Brain Substantia Nigra	brain
30	chr5:112666600-112667200	Enhancers	Fetal Stomach	stomach
31	chr5:112666600-112667200	Enhancers	Pancreas	Pancrea
32	chr5:112666600-112667200	Flanking Active TSS	HSMM	muscle
33	chr5:112666600-112667200	Enhancers	NHEK	skin
34	chr5:112666600-112668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:112666800-112667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:112666800-112667200	Active TSS	Fetal Muscle Trunk	muscle
37	chr5:112666800-112667200	Enhancers	Right Ventricle	heart
38	chr5:112666800-112669000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:112666800-112669200	Weak transcription	Primary T cells from cord blood	blood
40	chr5:112666800-112670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:112667000-112667200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:112667000-112667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:112667000-112667200	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:112667000-112667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:112667000-112667600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:112667000-112669200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:112667000-112670000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:112667000-112672400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112667000-112672800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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