Variant report

Variant	rs550819962
Chromosome Location	chr1:58714966-58714967
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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv546307	chr1:58707111-58733050	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546308	chr1:58714427-58743499	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58713000-58716800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr1:58713600-58715200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
3	chr1:58713800-58715000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:58713800-58715200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:58713800-58715600	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:58713800-58715800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:58713800-58716000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr1:58714000-58715000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr1:58714000-58715200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:58714000-58715200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr1:58714200-58715000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:58714200-58715000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:58714200-58715200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr1:58714200-58715400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
15	chr1:58714200-58715800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr1:58714200-58716200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:58714200-58716200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:58714200-58716200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:58714400-58715000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr1:58714400-58715200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:58714400-58715200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:58714400-58715200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr1:58714400-58715400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr1:58714400-58715600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:58714400-58715600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr1:58714400-58716200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr1:58714400-58716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:58714600-58715000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:58714600-58715000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
30	chr1:58714600-58715000	Active TSS	Fetal Brain Male	brain
31	chr1:58714600-58715000	Bivalent Enhancer	Left Ventricle	heart
32	chr1:58714600-58715200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr1:58714600-58715200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr1:58714600-58715200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
35	chr1:58714600-58715200	Bivalent Enhancer	Fetal Lung	lung
36	chr1:58714600-58715200	Enhancers	Right Atrium	heart
37	chr1:58714600-58715400	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr1:58714600-58715400	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr1:58714600-58715400	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr1:58714600-58716000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr1:58714600-58716000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr1:58714600-58716200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:58714600-58716400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:58714800-58715000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:58714800-58715000	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr1:58714800-58715000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:58714800-58715000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr1:58714800-58715000	Bivalent Enhancer	Liver	Liver

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