Variant report

Variant	rs56405239
Chromosome Location	chr19:45558605-45558606
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45405446..45407479-chr19:45558545..45561751,3	K562	blood:
2	chr19:45558584..45560889-chr19:45665988..45668898,2	K562	blood:
3	chr19:45557954..45559888-chr19:45561562..45564154,2	K562	blood:
4	chr19:45556346..45558163-chr19:45558603..45561393,2	K562	blood:
5	chr19:45558013..45560100-chr19:45565503..45567374,2	K562	blood:
6	chr19:45542287..45544509-chr19:45556608..45559853,3	K562	blood:

Variant related genes	Relation type
ENSG00000104859	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16979659	1.00[AMR][1000 genomes]
rs16979703	1.00[AMR][1000 genomes]
rs34858267	0.81[AFR][1000 genomes]
rs35527954	0.81[AFR][1000 genomes]
rs56213215	1.00[AMR][1000 genomes]
rs57454146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58584483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509946	1.00[AMR][1000 genomes]
rs60530130	1.00[AMR][1000 genomes]
rs73939603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939647	1.00[AMR][1000 genomes]
rs73939649	1.00[AMR][1000 genomes]
rs73941103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45542800-45571200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:45544200-45573400	Weak transcription	Fetal Brain Male	brain
3	chr19:45545600-45563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:45549800-45559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:45550800-45560600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:45552200-45574800	Strong transcription	Dnd41	blood
7	chr19:45552400-45575800	Strong transcription	Lung	lung
8	chr19:45552400-45576000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr19:45552400-45577400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:45552600-45576200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:45552600-45577200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:45552800-45576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:45553000-45562600	Strong transcription	A549	lung
14	chr19:45553000-45575400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:45553000-45576000	Strong transcription	Brain Germinal Matrix	brain
16	chr19:45553200-45560000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:45553400-45575800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:45553400-45578800	Weak transcription	Right Atrium	heart
19	chr19:45553600-45562000	Weak transcription	Psoas Muscle	Psoas
20	chr19:45553600-45562800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:45553600-45575600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:45553600-45576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:45553600-45576000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:45554000-45576000	Strong transcription	Fetal Thymus	thymus
25	chr19:45554200-45570000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:45554200-45570600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:45554200-45575200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:45554200-45576000	Strong transcription	Thymus	Thymus
29	chr19:45554400-45559200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:45554600-45576000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:45554600-45577000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:45555000-45562600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr19:45555000-45575800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:45555000-45576000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:45555000-45576200	Strong transcription	Fetal Stomach	stomach
36	chr19:45555000-45576400	Strong transcription	Fetal Brain Female	brain
37	chr19:45555200-45562200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:45555200-45563000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:45555200-45565600	Strong transcription	HepG2	liver
40	chr19:45555200-45566400	Strong transcription	NHDF-Ad	bronchial
41	chr19:45555200-45569200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:45555200-45570000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:45555200-45570000	Strong transcription	Placenta	Placenta
44	chr19:45555200-45570800	Strong transcription	Primary T cells from cord blood	blood
45	chr19:45555200-45575000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:45555200-45575000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr19:45555200-45575200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:45555200-45575200	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:45555200-45575600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:45555200-45576000	Strong transcription	Right Ventricle	heart

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