Variant report

Variant	rs59525232
Chromosome Location	chr14:69245581-69245582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69132196..69134368-chr14:69245052..69247139,3	MCF-7	breast:
2	chr14:69231839..69233779-chr14:69245247..69247315,2	K562	blood:
3	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
4	chr14:69238784..69240441-chr14:69244509..69246381,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28523846	0.86[ASN][1000 genomes]
rs55876724	1.00[ASN][1000 genomes]
rs56232028	0.95[AFR][1000 genomes]
rs59745064	1.00[ASN][1000 genomes]
rs60594327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013475	0.96[AFR][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
2	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69233400-69247000	Weak transcription	Liver	Liver
4	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:69238600-69245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:69238800-69246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:69240000-69245800	Weak transcription	Left Ventricle	heart
9	chr14:69240000-69247000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:69240400-69245800	Weak transcription	Thymus	Thymus
12	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:69242400-69245800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:69242800-69247000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:69243000-69245600	Weak transcription	Fetal Thymus	thymus
16	chr14:69243000-69246400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:69243200-69246000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:69243200-69246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:69243400-69245800	Weak transcription	Lung	lung
20	chr14:69243400-69245800	Weak transcription	Right Ventricle	heart
21	chr14:69243600-69245600	Weak transcription	Pancreas	Pancrea
22	chr14:69243800-69246800	Weak transcription	Spleen	Spleen
23	chr14:69244200-69246200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:69244200-69246400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:69244400-69246200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr14:69244400-69246200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:69244400-69246400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr14:69244400-69246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:69244400-69246800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:69244400-69247000	Enhancers	HSMM	muscle
34	chr14:69244400-69248600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:69244400-69248600	Enhancers	HSMMtube	muscle
36	chr14:69244400-69248600	Enhancers	NHLF	lung
37	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
38	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
39	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
40	chr14:69244600-69245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:69244600-69246000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:69244600-69246600	Enhancers	NHDF-Ad	bronchial
43	chr14:69244600-69249600	Enhancers	Fetal Heart	heart
44	chr14:69244600-69250000	Enhancers	Fetal Lung	lung
45	chr14:69244800-69245600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr14:69244800-69245600	Flanking Active TSS	A549	lung
47	chr14:69244800-69245800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:69244800-69245800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:69244800-69246200	Enhancers	Primary T cells from cord blood	blood
50	chr14:69244800-69246400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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