Variant report

Variant	rs550628365
Chromosome Location	chr2:210636052-210636053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:210635897-210637208	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
2	MXI1	chr2:210635646-210638365	SK-N-SH	brain:	n/a	n/a
3	REST	chr2:210636041-210637083	SK-N-SH	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
4	REST	chr2:210635814-210637140	HL-60	blood:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
5	REST	chr2:210635915-210636952	MCF-7	breast:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
6	REST	chr2:210635908-210637433	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
7	REST	chr2:210636004-210636967	ECC-1	luminal epithelium:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
8	REST	chr2:210636020-210637466	H1-neurons	neurons:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
9	ZNF263	chr2:210635463-210636948	HEK293-T-REx	kidney:	n/a	chr2:210636601-210636610 chr2:210636693-210636702
10	REST	chr2:210635980-210636859	A549	lung:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517
11	REST	chr2:210635986-210637416	PFSK-1	brain:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
12	REST	chr2:210636044-210637171	ECC-1	luminal epithelium:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920
13	REST	chr2:210635870-210636949	PANC-1	pancreas:	n/a	chr2:210636490-210636499 chr2:210636570-210636583 chr2:210636601-210636614 chr2:210636503-210636517 chr2:210636907-210636920

Variant related genes	Relation type
UNC80	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3417338	chr2:210635907-210637905	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210632600-210636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:210635600-210637200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:210635800-210637200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:210636000-210636200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:210636000-210636200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:210636000-210636200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr2:210636000-210636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:210636000-210636200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:210636000-210636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:210636000-210636200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:210636000-210636200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:210636000-210636200	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr2:210636000-210636200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
14	chr2:210636000-210636200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:210636000-210636200	Enhancers	Fetal Heart	heart
16	chr2:210636000-210636200	Bivalent Enhancer	Fetal Stomach	stomach
17	chr2:210636000-210636200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr2:210636000-210636200	Enhancers	HMEC	breast
19	chr2:210636000-210636200	Bivalent/Poised TSS	NHEK	skin
20	chr2:210636000-210636400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:210636000-210636400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr2:210636000-210636400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:210636000-210636400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:210636000-210636400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr2:210636000-210636400	Flanking Active TSS	Fetal Brain Male	brain
26	chr2:210636000-210636400	Active TSS	Fetal Kidney	kidney
27	chr2:210636000-210636400	Active TSS	NHDF-Ad	bronchial
28	chr2:210636000-210636800	Active TSS	Ovary	ovary
29	chr2:210636000-210637000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr2:210636000-210637000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:210636000-210637000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:210636000-210637000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:210636000-210637200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:210636000-210637400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:210636000-210637400	Active TSS	Brain Germinal Matrix	brain
36	chr2:210636000-210637400	Active TSS	Fetal Brain Female	brain
37	chr2:210636000-210637400	Active TSS	NH-A	brain
38	chr2:210636000-210637600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:210636000-210637600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:210636000-210637600	Active TSS	Brain Cingulate Gyrus	brain
41	chr2:210636000-210638000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:210636000-210638200	Active TSS	Brain Hippocampus Middle	brain
43	chr2:210636000-210638400	Active TSS	Brain Angular Gyrus	brain

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