Variant report

Variant	rs142369650
Chromosome Location	chr5:81022301-81022302
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81011299..81014307-chr5:81021484..81024524,3	K562	blood:
2	chr5:81017452..81019959-chr5:81020706..81023744,3	K562	blood:
3	chr5:81017452..81019271-chr5:81022244..81024065,2	K562	blood:
4	chr5:81020260..81022412-chr5:81045440..81047540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145687	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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:81014400-81022800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:81014600-81022800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:81015800-81023000	Weak transcription	Psoas Muscle	Psoas
8	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
9	chr5:81016000-81031800	Weak transcription	Ovary	ovary
10	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
11	chr5:81018000-81031600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:81018400-81022400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:81018400-81023600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:81018600-81022400	Weak transcription	Fetal Heart	heart
15	chr5:81018600-81033800	Weak transcription	Thymus	Thymus
16	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:81019400-81022400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:81019800-81029000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:81020600-81022600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:81020600-81023000	Genic enhancers	Dnd41	blood
21	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:81021000-81023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:81021000-81023600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:81021000-81028200	Weak transcription	Primary B cells from cord blood	blood
25	chr5:81021000-81033600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:81021200-81022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:81021200-81022800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:81021200-81029800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:81021400-81022400	Genic enhancers	Fetal Thymus	thymus
30	chr5:81021400-81022800	Enhancers	Fetal Brain Female	brain
31	chr5:81021400-81022800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:81021400-81023000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr5:81021600-81022600	Enhancers	Brain Hippocampus Middle	brain
34	chr5:81021600-81023000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:81021600-81024400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:81021600-81033600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:81022000-81022400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:81022000-81022400	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:81022000-81022400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:81022000-81022400	Enhancers	Brain Anterior Caudate	brain
41	chr5:81022000-81022400	Enhancers	Fetal Brain Male	brain
42	chr5:81022000-81022800	Enhancers	Adipose Nuclei	Adipose
43	chr5:81022000-81022800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:81022000-81023000	Enhancers	Brain Germinal Matrix	brain
45	chr5:81022000-81023000	Enhancers	Colon Smooth Muscle	Colon
46	chr5:81022000-81023800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:81022200-81022600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:81022200-81022600	Enhancers	Stomach Smooth Muscle	stomach
49	chr5:81022200-81023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:81022200-81025200	Weak transcription	GM12878-XiMat	blood

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