Variant report

Variant	rs534700723
Chromosome Location	chr20:1446260-1446261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1444656..1446589-chr20:1449305..1450879,2	K562	blood:
2	chr20:1422183..1425116-chr20:1445369..1447221,2	K562	blood:
3	chr20:1446155..1447724-chr20:1468382..1469913,2	MCF-7	breast:
4	chr20:1306070..1308541-chr20:1446001..1448028,2	MCF-7	breast:
5	chr20:1437321..1440209-chr20:1445376..1448458,3	MCF-7	breast:
6	chr20:1436244..1441221-chr20:1444525..1448562,4	MCF-7	breast:
7	chr20:361485..363213-chr20:1446007..1447644,2	K562	blood:

Variant related genes	Relation type
ENSG00000266085	Chromatin interaction
ENSG00000101255	Chromatin interaction
ENSG00000088833	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	chr20:1431600-1446400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1433600-1446600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:1436600-1446400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:1442000-1446600	Weak transcription	Aorta	Aorta
5	chr20:1443400-1446400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr20:1443600-1446400	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:1444400-1446400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1444400-1446400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr20:1444400-1446400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr20:1444400-1446400	Genic enhancers	Lung	lung
11	chr20:1444600-1446400	Genic enhancers	Primary T cells from cord blood	blood
12	chr20:1444600-1446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:1444800-1446400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr20:1444800-1446400	Enhancers	Fetal Heart	heart
15	chr20:1445200-1446400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:1445200-1446400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:1445200-1446400	Enhancers	Gastric	stomach
18	chr20:1445200-1446600	Enhancers	Pancreas	Pancrea
19	chr20:1445400-1446400	Genic enhancers	Fetal Stomach	stomach
20	chr20:1445400-1446600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr20:1445600-1446400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:1445600-1446400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr20:1445600-1446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:1445600-1446400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
25	chr20:1445600-1446600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:1445600-1446800	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr20:1445800-1446400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
28	chr20:1445800-1446400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:1445800-1446400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
30	chr20:1445800-1446400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr20:1445800-1446400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:1445800-1446400	Genic enhancers	Placenta	Placenta
33	chr20:1445800-1446400	Enhancers	Left Ventricle	heart
34	chr20:1445800-1446400	Transcr. at gene 5' and 3'	A549	lung
35	chr20:1445800-1446400	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr20:1445800-1446600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:1445800-1446600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr20:1445800-1446800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr20:1445800-1446800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr20:1445800-1446800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr20:1445800-1447000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:1445800-1447000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr20:1445800-1447400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr20:1445800-1447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr20:1446000-1446400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr20:1446000-1446400	Enhancers	Fetal Brain Male	brain
47	chr20:1446000-1446400	Enhancers	Fetal Intestine Large	intestine
48	chr20:1446000-1446400	Transcr. at gene 5' and 3'	Fetal Lung	lung
49	chr20:1446000-1446400	Enhancers	Right Atrium	heart
50	chr20:1446000-1446400	Enhancers	Thymus	Thymus

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