Variant report

Variant	rs528200943
Chromosome Location	chr1:57887625-57887626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv20279	chr1:57887344-57887923	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	esv19188	chr1:57887539-57890289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57887800	Active TSS	Fetal Brain Male	brain
2	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
3	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57887200-57888200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr1:57887200-57888400	Enhancers	Fetal Heart	heart
7	chr1:57887200-57888600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr1:57887200-57888800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:57887400-57887800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr1:57887400-57888200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:57887400-57888400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:57887400-57888400	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr1:57887400-57888400	Active TSS	Brain Angular Gyrus	brain
19	chr1:57887400-57889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
22	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:57887400-57890600	Active TSS	Right Atrium	heart
25	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:57887600-57887800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:57887600-57887800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:57887600-57887800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:57887600-57887800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:57887600-57887800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr1:57887600-57887800	Bivalent/Poised TSS	NHEK	skin
32	chr1:57887600-57888000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:57887600-57888000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:57887600-57888000	Bivalent Enhancer	Fetal Lung	lung
35	chr1:57887600-57889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet

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