Variant report

Variant	rs552985221
Chromosome Location	chr20:41817646-41817647
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	BACH1	chr20:41817618-41817818	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr20:41816560-41819205	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
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:56 , 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	chr20:41816600-41817800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr20:41816600-41817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:41816600-41818000	Enhancers	Liver	Liver
5	chr20:41816600-41818200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr20:41816600-41818200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
7	chr20:41816600-41818800	Active TSS	Aorta	Aorta
8	chr20:41816600-41819000	Enhancers	Pancreas	Pancrea
9	chr20:41816600-41819200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:41816600-41819400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr20:41816600-41819400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr20:41816800-41818000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr20:41816800-41818000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
14	chr20:41816800-41818200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
15	chr20:41816800-41818200	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr20:41816800-41818200	Bivalent/Poised TSS	Fetal Thymus	thymus
17	chr20:41817000-41817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:41817000-41817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr20:41817000-41817800	Bivalent Enhancer	Esophagus	oesophagus
20	chr20:41817000-41817800	Bivalent/Poised TSS	Placenta	Placenta
21	chr20:41817000-41818400	Active TSS	Gastric	stomach
22	chr20:41817000-41819400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr20:41817000-41819400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr20:41817000-41819400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:41817200-41818000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:41817200-41818000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
27	chr20:41817200-41818200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr20:41817200-41818400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr20:41817200-41818800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:41817200-41818800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:41817200-41818800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr20:41817200-41818800	Bivalent/Poised TSS	Thymus	Thymus
33	chr20:41817200-41819000	Bivalent/Poised TSS	Right Ventricle	heart
34	chr20:41817200-41819200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr20:41817200-41819200	Active TSS	Brain Angular Gyrus	brain
36	chr20:41817200-41819400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr20:41817200-41819400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr20:41817200-41819400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr20:41817200-41819800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr20:41817400-41817800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr20:41817400-41818000	Active TSS	Brain Anterior Caudate	brain
42	chr20:41817400-41819000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr20:41817600-41817800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:41817600-41817800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr20:41817600-41817800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr20:41817600-41817800	Bivalent Enhancer	Fetal Lung	lung
47	chr20:41817600-41818000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr20:41817600-41818000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr20:41817600-41818000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr20:41817600-41818200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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