Variant report

Variant	rs60693583
Chromosome Location	chr14:69244477-69244478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69240954..69243158-chr14:69243176..69244974,2	MCF-7	breast:
2	chr14:69237260..69240104-chr14:69243111..69244971,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs56173737	0.93[AFR][1000 genomes]
rs57266336	0.93[AFR][1000 genomes]
rs57642360	0.89[AFR][1000 genomes]
rs58638884	0.83[AFR][1000 genomes]
rs72731537	0.83[AFR][1000 genomes]
rs72731538	0.83[AFR][1000 genomes]
rs74060130	0.93[AFR][1000 genomes]
rs74060132	0.93[AFR][1000 genomes]
rs74060133	0.93[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:57 , 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	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
4	chr14:69233400-69247000	Weak transcription	Liver	Liver
5	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:69238600-69245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:69238800-69246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:69239000-69244800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:69240000-69245200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr14:69240000-69245800	Weak transcription	Left Ventricle	heart
12	chr14:69240000-69247000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:69240400-69245800	Weak transcription	Thymus	Thymus
15	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:69241600-69244800	Weak transcription	Primary T cells from cord blood	blood
17	chr14:69241600-69244800	Weak transcription	K562	blood
18	chr14:69242400-69244600	Weak transcription	NHDF-Ad	bronchial
19	chr14:69242400-69245800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:69242800-69247000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:69243000-69244800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:69243000-69245600	Weak transcription	Fetal Thymus	thymus
23	chr14:69243000-69246400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:69243200-69246000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69243200-69246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:69243400-69245000	Weak transcription	HepG2	liver
27	chr14:69243400-69245800	Weak transcription	Lung	lung
28	chr14:69243400-69245800	Weak transcription	Right Ventricle	heart
29	chr14:69243600-69244600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:69243600-69244800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:69243600-69244800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:69243600-69244800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:69243600-69245000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:69243600-69245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:69243600-69245600	Weak transcription	Pancreas	Pancrea
36	chr14:69243800-69246800	Weak transcription	Spleen	Spleen
37	chr14:69244000-69244600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:69244200-69246200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:69244200-69246400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:69244400-69244800	Enhancers	A549	lung
42	chr14:69244400-69245200	Enhancers	Small Intestine	intestine
43	chr14:69244400-69245400	Enhancers	Ovary	ovary
44	chr14:69244400-69246200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:69244400-69246200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:69244400-69246400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:69244400-69246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:69244400-69246800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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