Variant report

Variant	rs575203720
Chromosome Location	chr4:47488641-47488642
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47486800-47488800	Active TSS	Brain Cingulate Gyrus	brain
2	chr4:47486800-47488800	Active TSS	Brain Hippocampus Middle	brain
3	chr4:47486800-47488800	Active TSS	Brain Substantia Nigra	brain
4	chr4:47486800-47489000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:47486800-47489000	Active TSS	Colon Smooth Muscle	Colon
6	chr4:47486800-47489000	Active TSS	Right Atrium	heart
7	chr4:47486800-47489400	Active TSS	Brain Angular Gyrus	brain
8	chr4:47486800-47489600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:47486800-47490000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:47487000-47488800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:47487000-47488800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:47487000-47488800	Active TSS	Fetal Kidney	kidney
13	chr4:47487000-47488800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr4:47487000-47488800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr4:47487000-47488800	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:47487000-47488800	Active TSS	Right Ventricle	heart
17	chr4:47487000-47488800	Active TSS	NHDF-Ad	bronchial
18	chr4:47487000-47489000	Active TSS	Aorta	Aorta
19	chr4:47487000-47489000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:47487000-47489000	Active TSS	Ovary	ovary
21	chr4:47487000-47489000	Active TSS	Psoas Muscle	Psoas
22	chr4:47487000-47489200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:47487000-47489200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:47487000-47489600	Active TSS	HSMMtube	muscle
25	chr4:47487200-47488800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:47487200-47488800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:47487200-47488800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:47487200-47488800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:47487200-47488800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:47487200-47488800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr4:47487200-47488800	Active TSS	Stomach Smooth Muscle	stomach
32	chr4:47487200-47488800	Active TSS	NHLF	lung
33	chr4:47487200-47489000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:47487200-47489000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:47487200-47489200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:47487200-47489200	Active TSS	HSMM	muscle
37	chr4:47487200-47489400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:47487200-47489400	Active TSS	NHEK	skin
39	chr4:47487200-47489600	Active TSS	HMEC	breast
40	chr4:47487200-47489800	Active TSS	Placenta	Placenta
41	chr4:47487800-47488800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr4:47487800-47488800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:47487800-47488800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:47488000-47488800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:47488000-47489000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr4:47488000-47492400	Weak transcription	Spleen	Spleen
47	chr4:47488000-47492600	Weak transcription	Gastric	stomach
48	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:47488200-47488800	Flanking Active TSS	Liver	Liver
50	chr4:47488200-47489000	Flanking Active TSS	Dnd41	blood

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