Variant report

Variant	rs535286617
Chromosome Location	chr20:41818695-41818696
allele	C/T
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	POLR2A	chr20:41818609-41819065	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr20:41818335-41819058	H1-neurons	neurons:	n/a	n/a
3	EGR1	chr20:41818658-41819065	H1-hESC	embryonic stem cell:	n/a	chr20:41818792-41818814 chr20:41819041-41819051 chr20:41818893-41818902 chr20:41818798-41818807
4	SUZ12	chr20:41816560-41819205	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
PTPRT	TF binding region
ENSG00000233508	TF binding region

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	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2751914	chr20:41744586-41890453	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3412564	chr20:41817238-41820486	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3329299	chr20:41817363-41819911	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 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	chr20:41815400-41819000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr20:41816600-41818800	Active TSS	Aorta	Aorta
3	chr20:41816600-41819000	Enhancers	Pancreas	Pancrea
4	chr20:41816600-41819200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:41816600-41819400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr20:41816600-41819400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr20:41817000-41819400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr20:41817000-41819400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr20:41817000-41819400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:41817200-41818800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:41817200-41818800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr20:41817200-41818800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:41817200-41818800	Bivalent/Poised TSS	Thymus	Thymus
14	chr20:41817200-41819000	Bivalent/Poised TSS	Right Ventricle	heart
15	chr20:41817200-41819200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr20:41817200-41819200	Active TSS	Brain Angular Gyrus	brain
17	chr20:41817200-41819400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr20:41817200-41819400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr20:41817200-41819400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr20:41817200-41819800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr20:41817400-41819000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr20:41817600-41818800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:41817600-41819000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:41817600-41819000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:41817600-41820000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:41817800-41819000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:41818000-41818800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:41818000-41818800	Weak transcription	Brain Anterior Caudate	brain
29	chr20:41818000-41819000	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr20:41818000-41819200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:41818200-41818800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr20:41818200-41819000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:41818200-41819000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr20:41818200-41819000	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr20:41818400-41818800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr20:41818400-41818800	Bivalent/Poised TSS	Right Atrium	heart
37	chr20:41818600-41818800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:41818600-41818800	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr20:41818600-41818800	Bivalent Enhancer	Esophagus	oesophagus
40	chr20:41818600-41819000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr20:41818600-41819000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:41818600-41819000	Bivalent Enhancer	Fetal Brain Male	brain
43	chr20:41818600-41819000	Bivalent Enhancer	Spleen	Spleen

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