Variant report

Variant	rs375610653
Chromosome Location	chr20:1446997-1446998
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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	chr20:1371233..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	chr20:1372434..1374768-chr20:1446935..1449052,2	K562	blood:
8	chr20:1436244..1441221-chr20:1444525..1448562,4	MCF-7	breast:
9	chr20:361485..363213-chr20:1446007..1447644,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266085	Chromatin interaction
ENSG00000088833	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000088832	Chromatin interaction
ENSG00000101255	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	chr20:1445800-1447000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:1445800-1447000	Flanking Active TSS	Rectal Smooth Muscle	rectum
3	chr20:1445800-1447400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr20:1445800-1447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr20:1446000-1447000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:1446000-1447000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr20:1446000-1447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:1446000-1447000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:1446000-1447000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr20:1446000-1447000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr20:1446000-1447200	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr20:1446000-1447800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr20:1446200-1447000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:1446200-1447000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:1446200-1447000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr20:1446200-1447000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr20:1446200-1447000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr20:1446200-1447000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr20:1446200-1447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:1446200-1447000	Flanking Active TSS	Liver	Liver
21	chr20:1446200-1447000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr20:1446200-1447000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr20:1446200-1447000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr20:1446200-1447000	Flanking Active TSS	HUVEC	blood vessel
25	chr20:1446200-1447000	Flanking Active TSS	NH-A	brain
26	chr20:1446200-1447000	Flanking Active TSS	Osteobl	bone
27	chr20:1446200-1447400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr20:1446200-1447800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr20:1446200-1447800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr20:1446200-1448000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr20:1446200-1448000	Active TSS	Fetal Muscle Trunk	muscle
32	chr20:1446400-1447000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr20:1446400-1447000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr20:1446400-1447000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr20:1446400-1447000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr20:1446400-1447000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr20:1446400-1447000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr20:1446400-1447000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr20:1446400-1447000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr20:1446400-1447000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr20:1446400-1447000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr20:1446400-1447000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr20:1446400-1447000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr20:1446400-1447000	Flanking Active TSS	Fetal Heart	heart
45	chr20:1446400-1447000	Flanking Active TSS	Fetal Lung	lung
46	chr20:1446400-1447000	Flanking Active TSS	Thymus	Thymus
47	chr20:1446400-1447000	Flanking Active TSS	K562	blood
48	chr20:1446400-1447800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr20:1446600-1447000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr20:1446600-1447000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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