Variant report

Variant	rs192718860
Chromosome Location	chr5:54041951-54041952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53812268..53814960-chr5:54041334..54044388,3	MCF-7	breast:
2	chr5:54040322..54042008-chr5:54061113..54064039,2	K562	blood:
3	chr5:54039960..54041992-chr5:54042143..54044677,2	K562	blood:

Variant related genes	Relation type
ENSG00000178996	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3378305	chr5:54040695-54045193	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54036400-54042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:54036800-54044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:54037200-54042800	Weak transcription	Gastric	stomach
4	chr5:54037600-54042000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:54038200-54042000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:54038200-54042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:54038400-54042800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:54039000-54042000	Enhancers	Dnd41	blood
9	chr5:54039600-54042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:54039600-54042600	Enhancers	Spleen	Spleen
11	chr5:54040000-54042000	Enhancers	NHDF-Ad	bronchial
12	chr5:54040000-54043000	Weak transcription	Right Ventricle	heart
13	chr5:54040200-54044600	Weak transcription	Esophagus	oesophagus
14	chr5:54040600-54042000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr5:54040600-54044000	Enhancers	K562	blood
16	chr5:54040600-54044200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:54040600-54044600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:54040600-54047400	Weak transcription	Right Atrium	heart
19	chr5:54040600-54050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:54041200-54042200	Enhancers	Ovary	ovary
22	chr5:54041200-54042200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:54041400-54042000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:54041400-54042000	Enhancers	Lung	lung
26	chr5:54041400-54042000	Enhancers	Pancreas	Pancrea
27	chr5:54041400-54046800	Weak transcription	Primary B cells from cord blood	blood
28	chr5:54041400-54048600	Weak transcription	HSMMtube	muscle
29	chr5:54041600-54048800	Weak transcription	NHLF	lung
30	chr5:54041800-54048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:54041800-54048800	Weak transcription	Fetal Heart	heart
32	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
33	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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