Variant report

Variant	rs146758896
Chromosome Location	chr20:41817321-41817322
allele	C/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	CTCF	chr20:41816020-41817330	SK-N-SH	brain:	n/a	chr20:41816561-41816574 chr20:41816560-41816576 chr20:41816559-41816577 chr20:41816561-41816574
2	SUZ12	chr20:41816560-41819205	NT2-D1	testis:	n/a	n/a
3	RAD21	chr20:41815974-41817339	SK-N-SH	brain:	n/a	chr20:41816557-41816576 chr20:41817274-41817287
4	POLR2A	chr20:41816483-41817382	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000233508	TF binding region

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	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41815400-41819000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr20:41816600-41817400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr20:41816600-41817600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
4	chr20:41816600-41817800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr20:41816600-41817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:41816600-41818000	Enhancers	Liver	Liver
7	chr20:41816600-41818200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr20:41816600-41818200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
9	chr20:41816600-41818800	Active TSS	Aorta	Aorta
10	chr20:41816600-41819000	Enhancers	Pancreas	Pancrea
11	chr20:41816600-41819200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:41816600-41819400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr20:41816600-41819400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr20:41816800-41817400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr20:41816800-41817400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr20:41816800-41818000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr20:41816800-41818000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
18	chr20:41816800-41818200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr20:41816800-41818200	Bivalent Enhancer	Colon Smooth Muscle	Colon
20	chr20:41816800-41818200	Bivalent/Poised TSS	Fetal Thymus	thymus
21	chr20:41817000-41817400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:41817000-41817400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr20:41817000-41817400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr20:41817000-41817600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:41817000-41817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:41817000-41817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:41817000-41817800	Bivalent Enhancer	Esophagus	oesophagus
28	chr20:41817000-41817800	Bivalent/Poised TSS	Placenta	Placenta
29	chr20:41817000-41818400	Active TSS	Gastric	stomach
30	chr20:41817000-41819400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr20:41817000-41819400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr20:41817000-41819400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr20:41817200-41817400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:41817200-41817400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr20:41817200-41817600	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr20:41817200-41817600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr20:41817200-41817600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr20:41817200-41818000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:41817200-41818000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr20:41817200-41818200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr20:41817200-41818400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr20:41817200-41818800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:41817200-41818800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr20:41817200-41818800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:41817200-41818800	Bivalent/Poised TSS	Thymus	Thymus
46	chr20:41817200-41819000	Bivalent/Poised TSS	Right Ventricle	heart
47	chr20:41817200-41819200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr20:41817200-41819200	Active TSS	Brain Angular Gyrus	brain
49	chr20:41817200-41819400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr20:41817200-41819400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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