Variant report

Variant	rs547753539
Chromosome Location	chr4:54452223-54452224
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54439397..54441582-chr4:54451989..54453798,2	K562	blood:
2	chr4:54449770..54452528-chr4:54455369..54457530,2	MCF-7	breast:
3	chr4:54450499..54453685-chr4:54466144..54467975,3	MCF-7	breast:
4	chr4:54451873..54454267-chr4:54454529..54458106,3	K562	blood:
5	chr4:54450850..54455147-chr4:54455906..54459442,4	K562	blood:

Variant related genes	Relation type
ENSG00000072201	Chromatin interaction
ENSG00000248494	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437918	chr4:54451175-54483569	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879014	chr4:54451246-54461548	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
2	chr4:54431200-54456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:54438600-54452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:54439000-54454800	Weak transcription	Left Ventricle	heart
5	chr4:54439200-54454600	Weak transcription	Aorta	Aorta
6	chr4:54443600-54452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:54443600-54457000	Weak transcription	Colonic Mucosa	Colon
8	chr4:54443800-54452600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:54443800-54453600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:54444000-54454600	Weak transcription	Placenta	Placenta
11	chr4:54447200-54452400	Weak transcription	Fetal Brain Male	brain
12	chr4:54447400-54454800	Weak transcription	Gastric	stomach
13	chr4:54448600-54454600	Weak transcription	Esophagus	oesophagus
14	chr4:54448600-54457400	Weak transcription	HMEC	breast
15	chr4:54448800-54453200	Weak transcription	Liver	Liver
16	chr4:54448800-54453600	Weak transcription	Fetal Kidney	kidney
17	chr4:54449200-54453800	Weak transcription	Pancreas	Pancrea
18	chr4:54449800-54453800	Enhancers	NHDF-Ad	bronchial
19	chr4:54450000-54454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:54450800-54457000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:54451000-54452600	Weak transcription	HepG2	liver
22	chr4:54451000-54453400	Enhancers	NHLF	lung
23	chr4:54451200-54452600	Weak transcription	Small Intestine	intestine
24	chr4:54451400-54453600	Enhancers	Fetal Heart	heart
25	chr4:54451600-54452600	Enhancers	Fetal Lung	lung
26	chr4:54451600-54452800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:54451600-54452800	Enhancers	NHEK	skin
28	chr4:54451600-54453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:54451600-54453000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:54451800-54452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:54451800-54452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:54451800-54452800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:54451800-54453000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:54451800-54453000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:54451800-54453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:54451800-54453000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:54451800-54453200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:54451800-54453200	Enhancers	Osteobl	bone
39	chr4:54452000-54452400	Weak transcription	Fetal Intestine Small	intestine
40	chr4:54452000-54452400	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:54452000-54452800	Enhancers	HSMMtube	muscle
42	chr4:54452000-54453000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:54452000-54453000	Enhancers	NH-A	brain
44	chr4:54452200-54452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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