Variant report

Variant	rs544488574
Chromosome Location	chr20:1446789-1446790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1422183..1425116-chr20:1445369..1447221,2	K562	blood:
2	chr20:1446155..1447724-chr20:1468382..1469913,2	MCF-7	breast:
3	chr20:1306070..1308541-chr20:1446001..1448028,2	MCF-7	breast:
4	chr20:1437321..1440209-chr20:1445376..1448458,3	MCF-7	breast:
5	chr20:1372232..1375944-chr20:1446656..1450761,3	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
ENSG00000101255	Chromatin interaction
ENSG00000088832	Chromatin interaction
ENSG00000266085	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	chr20:1445600-1446800	Flanking Active TSS	Colon Smooth Muscle	Colon
2	chr20:1445800-1446800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:1445800-1446800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr20:1445800-1446800	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr20:1445800-1447000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:1445800-1447000	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr20:1445800-1447400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr20:1445800-1447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr20:1446000-1446800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:1446000-1446800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:1446000-1446800	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr20:1446000-1446800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr20:1446000-1446800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr20:1446000-1446800	Flanking Active TSS	Colonic Mucosa	Colon
15	chr20:1446000-1446800	Flanking Active TSS	Fetal Brain Female	brain
16	chr20:1446000-1446800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr20:1446000-1446800	Flanking Active TSS	NHEK	skin
18	chr20:1446000-1447000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:1446000-1447000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr20:1446000-1447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:1446000-1447000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr20:1446000-1447000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr20:1446000-1447000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr20:1446000-1447200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr20:1446000-1447800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr20:1446200-1446800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr20:1446200-1446800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr20:1446200-1446800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:1446200-1446800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr20:1446200-1446800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr20:1446200-1446800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr20:1446200-1446800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr20:1446200-1446800	Flanking Active TSS	Fetal Kidney	kidney
34	chr20:1446200-1446800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr20:1446200-1446800	Flanking Active TSS	Right Ventricle	heart
36	chr20:1446200-1446800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr20:1446200-1446800	Flanking Active TSS	Stomach Mucosa	stomach
38	chr20:1446200-1446800	Enhancers	Spleen	Spleen
39	chr20:1446200-1446800	Flanking Active TSS	Dnd41	blood
40	chr20:1446200-1446800	Flanking Active TSS	GM12878-XiMat	blood
41	chr20:1446200-1446800	Flanking Active TSS	Hela-S3	cervix
42	chr20:1446200-1446800	Flanking Active TSS	HMEC	breast
43	chr20:1446200-1447000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:1446200-1447000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:1446200-1447000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr20:1446200-1447000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr20:1446200-1447000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr20:1446200-1447000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr20:1446200-1447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr20:1446200-1447000	Flanking Active TSS	Liver	Liver

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