Variant report

Variant	rs58051650
Chromosome Location	chr12:57094007-57094008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57027852..57031737-chr12:57091567..57094568,3	K562	blood:
2	chr12:57091495..57094052-chr12:57115831..57119075,3	K562	blood:
3	chr12:57080775..57082322-chr12:57093140..57094705,2	K562	blood:
4	chr12:57093397..57096206-chr12:57097645..57099530,2	K562	blood:
5	chr12:57092980..57095412-chr12:57112114..57114606,2	K562	blood:

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58783710	1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs74091604	1.00[AMR][1000 genomes]
rs74091642	1.00[AMR][1000 genomes]
rs74091895	1.00[AMR][1000 genomes]
rs74093907	1.00[AMR][1000 genomes]
rs74095031	1.00[AMR][1000 genomes]
rs74095032	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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57083800-57105200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:57084000-57094400	Weak transcription	Fetal Thymus	thymus
3	chr12:57089000-57109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57089800-57094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:57089800-57094400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:57090000-57094400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57090000-57094400	Weak transcription	Osteobl	bone
8	chr12:57090000-57094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:57090200-57094400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:57090200-57094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:57090200-57094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:57090400-57094400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:57090400-57104600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:57090400-57104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:57092400-57094400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:57092800-57094200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:57092800-57094400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:57093000-57095400	Enhancers	Placenta	Placenta
19	chr12:57093200-57094200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:57093400-57094400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:57093400-57104800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57093800-57094200	Enhancers	Primary B cells from cord blood	blood
23	chr12:57093800-57094200	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:57093800-57094200	Weak transcription	K562	blood
25	chr12:57094000-57094400	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:57094000-57094800	Active TSS	Monocytes-CD14+_RO01746	blood

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