Variant report

Variant	rs58116791
Chromosome Location	chr14:56680822-56680823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
2	chr14:56552357..56554889-chr14:56680041..56682175,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10132757	0.85[EUR][1000 genomes]
rs10152004	0.81[ASN][1000 genomes]
rs1382974	0.93[ASN][1000 genomes]
rs1382977	0.84[EUR][1000 genomes]
rs17091112	0.81[ASN][1000 genomes]
rs17091123	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662163	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61311029	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573085	0.83[ASN][1000 genomes]
rs7141484	0.95[ASN][1000 genomes]
rs7141949	0.93[ASN][1000 genomes]
rs7143560	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7152487	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7159441	0.90[AFR][1000 genomes]
rs7161103	0.88[ASN][1000 genomes]
rs7161274	0.87[ASN][1000 genomes]
rs8009804	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8011852	0.93[ASN][1000 genomes]
rs8014574	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
3	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56667200-56683400	Weak transcription	NHDF-Ad	bronchial
5	chr14:56669200-56681200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:56669600-56681200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:56672800-56683000	Weak transcription	Fetal Lung	lung
8	chr14:56673000-56682000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:56673000-56682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:56673000-56683000	Weak transcription	Fetal Kidney	kidney
11	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:56673400-56683200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
14	chr14:56673800-56682800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:56673800-56683200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:56673800-56683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:56673800-56683600	Weak transcription	Stomach Mucosa	stomach
18	chr14:56675000-56683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:56675000-56686800	Weak transcription	Aorta	Aorta
20	chr14:56675600-56681000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:56675600-56686200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:56677200-56685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56677400-56685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:56678000-56681600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:56678000-56683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:56678000-56683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:56678200-56681400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:56678200-56681400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:56678200-56681400	Enhancers	Dnd41	blood
30	chr14:56678200-56682000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:56678200-56683000	Weak transcription	Adipose Nuclei	Adipose
32	chr14:56678200-56686200	Weak transcription	Right Atrium	heart
33	chr14:56678800-56681400	Enhancers	Brain Hippocampus Middle	brain
34	chr14:56679000-56681000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:56679000-56683000	Weak transcription	K562	blood
36	chr14:56679000-56688800	Enhancers	Fetal Thymus	thymus
37	chr14:56679200-56681600	Enhancers	Pancreas	Pancrea
38	chr14:56679200-56682200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:56679400-56681800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:56679400-56684000	Weak transcription	Gastric	stomach
41	chr14:56679600-56682000	Weak transcription	Fetal Brain Female	brain
42	chr14:56679600-56682800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:56679600-56683400	Weak transcription	Left Ventricle	heart
44	chr14:56679600-56686800	Weak transcription	Spleen	Spleen
45	chr14:56679800-56681000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:56679800-56681000	Weak transcription	Brain Germinal Matrix	brain
47	chr14:56679800-56681000	Weak transcription	Thymus	Thymus
48	chr14:56679800-56682800	Weak transcription	Fetal Brain Male	brain
49	chr14:56679800-56683400	Weak transcription	HSMMtube	muscle
50	chr14:56679800-56683800	Weak transcription	Lung	lung

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