Variant report

Variant	rs547437500
Chromosome Location	chr1:57888077-57888078
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57888200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr1:57887200-57888400	Enhancers	Fetal Heart	heart
6	chr1:57887200-57888600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr1:57887200-57888800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:57887400-57888200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:57887400-57888400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:57887400-57888400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr1:57887400-57888400	Active TSS	Brain Angular Gyrus	brain
17	chr1:57887400-57889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
20	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:57887400-57890600	Active TSS	Right Atrium	heart
23	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:57887600-57889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:57887800-57888200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr1:57887800-57888200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr1:57887800-57888200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr1:57887800-57888400	Flanking Active TSS	Fetal Brain Male	brain
36	chr1:57887800-57888400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr1:57887800-57888600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr1:57887800-57888600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:57887800-57888600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr1:57887800-57888800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:57887800-57890000	Bivalent Enhancer	Liver	Liver
48	chr1:57887800-57890000	Bivalent Enhancer	Placenta	Placenta
49	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas

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