Variant report

Variant	rs28473693
Chromosome Location	chr4:55099943-55099944
allele	C/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	chr4:54774784..54775467-chr4:55099252..55100172,4	MCF-7	breast:
2	chr4:54774460..54775444-chr4:55099657..55101013,5	K562	blood:
3	chr4:54572370..54573128-chr4:55099581..55100333,2	MCF-7	breast:
4	chr4:53881755..53882893-chr4:55099401..55100106,3	K562	blood:
5	chr4:54487031..54487605-chr4:55099358..55100201,3	MCF-7	breast:
6	chr4:54795899..54796889-chr4:55098747..55099955,3	MCF-7	breast:
7	chr4:53100125..53100934-chr4:55099670..55100577,2	K562	blood:
8	chr4:53881814..53882461-chr4:55099539..55100545,3	MCF-7	breast:
9	chr4:54179815..54180318-chr4:55099127..55100044,2	MCF-7	breast:

No data

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57644424	1.00[AMR][1000 genomes]

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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55092000-55100800	Active TSS	Aorta	Aorta
2	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
4	chr4:55093200-55102000	Active TSS	Ovary	ovary
5	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:55094800-55100800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:55095000-55100400	Active TSS	Osteobl	bone
8	chr4:55095000-55100600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:55095000-55100800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:55095600-55100600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr4:55096000-55100000	Bivalent/Poised TSS	Thymus	Thymus
12	chr4:55096000-55100600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:55096000-55100800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:55096600-55100600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:55096600-55100600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:55096600-55101400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:55097400-55100600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:55097400-55101200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:55097800-55100400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:55098000-55100400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:55098000-55101000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:55098200-55100200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:55098400-55101200	Active TSS	Right Atrium	heart
24	chr4:55098400-55101400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:55098600-55100200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:55098600-55100600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr4:55098800-55100000	Active TSS	Brain Cingulate Gyrus	brain
28	chr4:55098800-55100000	Active TSS	NH-A	brain
29	chr4:55098800-55100200	Active TSS	Colon Smooth Muscle	Colon
30	chr4:55098800-55100200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:55098800-55100200	Active TSS	HSMM	muscle
32	chr4:55098800-55100400	Active TSS	HSMMtube	muscle
33	chr4:55098800-55100600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr4:55098800-55100600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:55098800-55101000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:55098800-55101000	Active TSS	A549	lung
37	chr4:55098800-55101200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:55099000-55100200	Active TSS	Placenta Amnion	Placenta Amnion
39	chr4:55099000-55100200	Bivalent/Poised TSS	HepG2	liver
40	chr4:55099000-55100400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:55099000-55100400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:55099000-55100600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr4:55099000-55100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:55099000-55100600	Flanking Active TSS	Liver	Liver
45	chr4:55099000-55100600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr4:55099000-55100600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr4:55099000-55101200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr4:55099000-55101200	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:55099000-55101400	Active TSS	Fetal Kidney	kidney
50	chr4:55099200-55100000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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