Variant report

Variant	rs528048970
Chromosome Location	chr20:1447344-1447345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1446155..1447724-chr20:1468382..1469913,2	MCF-7	breast:
2	chr20:1304840..1306676-chr20:1447020..1448985,3	K562	blood:
3	chr20:1306070..1308541-chr20:1446001..1448028,2	MCF-7	breast:
4	chr20:1371233..1373934-chr20:1446935..1449162,2	K562	blood:
5	chr20:1437321..1440209-chr20:1445376..1448458,3	MCF-7	breast:
6	chr20:1372232..1375944-chr20:1446656..1450761,3	MCF-7	breast:
7	chr20:1447017..1447769-chr9:102583969..102584507,2	Hela-S3	cervix:
8	chr20:1304611..1307577-chr20:1447050..1450049,5	K562	blood:
9	chr20:1372434..1374768-chr20:1446935..1449052,2	K562	blood:
10	chr20:1436244..1441221-chr20:1444525..1448562,4	MCF-7	breast:
11	chr20:361485..363213-chr20:1446007..1447644,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266085	Chromatin interaction
ENSG00000088833	Chromatin interaction
ENSG00000088832	Chromatin interaction
ENSG00000101255	Chromatin interaction
ENSG00000119508	Chromatin interaction
ENSG00000234684	Chromatin interaction
ENSG00000125775	Chromatin interaction

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	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1850632	chr20:1393861-1465597	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3375230	chr20:1446177-1448725	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1445800-1447400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr20:1445800-1447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr20:1446000-1447800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr20:1446200-1447400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr20:1446200-1447800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr20:1446200-1447800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr20:1446200-1448000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr20:1446200-1448000	Active TSS	Fetal Muscle Trunk	muscle
9	chr20:1446400-1447800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:1446600-1447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:1446600-1447400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:1446600-1447600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:1446600-1447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:1446600-1447600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:1446600-1447600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:1446600-1447600	Active TSS	Aorta	Aorta
17	chr20:1446600-1447600	Active TSS	Esophagus	oesophagus
18	chr20:1446600-1447600	Active TSS	Lung	lung
19	chr20:1446600-1447600	Active TSS	Ovary	ovary
20	chr20:1446600-1447600	Active TSS	Small Intestine	intestine
21	chr20:1446600-1447600	Active TSS	HSMMtube	muscle
22	chr20:1446600-1447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr20:1446600-1447800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:1446600-1447800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr20:1446600-1447800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:1446600-1447800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr20:1446600-1447800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:1446600-1447800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr20:1446600-1447800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:1446600-1447800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:1446600-1447800	Active TSS	Fetal Intestine Large	intestine
32	chr20:1446600-1447800	Active TSS	Pancreas	Pancrea
33	chr20:1446600-1447800	Active TSS	Right Atrium	heart
34	chr20:1446600-1447800	Active TSS	A549	lung
35	chr20:1446600-1447800	Active TSS	HSMM	muscle
36	chr20:1446600-1447800	Active TSS	NHDF-Ad	bronchial
37	chr20:1446600-1447800	Active TSS	NHLF	lung
38	chr20:1446600-1448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr20:1446600-1448000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:1446600-1448000	Active TSS	Left Ventricle	heart
41	chr20:1446600-1448000	Active TSS	Psoas Muscle	Psoas
42	chr20:1446600-1448200	Active TSS	Gastric	stomach
43	chr20:1446800-1447400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr20:1446800-1447600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:1446800-1447600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr20:1446800-1447600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:1446800-1447600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr20:1446800-1447600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:1446800-1447600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr20:1446800-1447600	Active TSS	Sigmoid Colon	Sigmoid Colon

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