Variant report

Variant	rs58253081
Chromosome Location	chr14:69043722-69043723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68924227..68926055-chr14:69043237..69046222,3	MCF-7	breast:
2	chr14:69037050..69041400-chr14:69041759..69045325,4	MCF-7	breast:
3	chr14:69042225..69044616-chr14:69056393..69058325,2	MCF-7	breast:
4	chr14:69040226..69045730-chr14:69257652..69262741,8	MCF-7	breast:
5	chr14:69042594..69046267-chr14:69258129..69261368,4	MCF-7	breast:
6	chr14:68943293..68946100-chr14:69042850..69045174,2	MCF-7	breast:
7	chr14:69043150..69045216-chr14:69050685..69052900,2	MCF-7	breast:
8	chr14:69043397..69045562-chr14:69085788..69088006,2	MCF-7	breast:
9	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
10	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17105879	0.80[AFR][1000 genomes]
rs17829180	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58592978	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 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	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69039200-69044400	Weak transcription	Liver	Liver
5	chr14:69040400-69043800	Enhancers	Lung	lung
6	chr14:69040600-69045600	Enhancers	Adipose Nuclei	Adipose
7	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:69041000-69048200	Enhancers	Placenta	Placenta
9	chr14:69041200-69045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
11	chr14:69041400-69043800	Enhancers	Spleen	Spleen
12	chr14:69041400-69045400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69041400-69045600	Enhancers	Osteobl	bone
14	chr14:69041400-69045800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:69041400-69046400	Enhancers	NHDF-Ad	bronchial
16	chr14:69041400-69047200	Enhancers	HSMM	muscle
17	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:69041600-69043800	Enhancers	Hela-S3	cervix
20	chr14:69041600-69044000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:69041600-69044600	Enhancers	NH-A	brain
22	chr14:69041600-69044800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:69041600-69045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:69041600-69045800	Enhancers	HMEC	breast
25	chr14:69041600-69046000	Enhancers	HUVEC	blood vessel
26	chr14:69041600-69046400	Enhancers	NHLF	lung
27	chr14:69041800-69044400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:69041800-69044400	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:69041800-69044800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:69041800-69046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:69041800-69046000	Enhancers	HepG2	liver
32	chr14:69042000-69044800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:69042000-69045800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:69042000-69045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:69042000-69046000	Weak transcription	Fetal Thymus	thymus
36	chr14:69042000-69050400	Weak transcription	Ovary	ovary
37	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
38	chr14:69042200-69044400	Weak transcription	Fetal Lung	lung
39	chr14:69042200-69047000	Weak transcription	Small Intestine	intestine
40	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:69042400-69045600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:69042400-69046400	Weak transcription	Fetal Stomach	stomach
43	chr14:69042600-69043800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:69042600-69043800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:69042600-69044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:69042600-69045000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:69042800-69044000	Enhancers	Esophagus	oesophagus
48	chr14:69042800-69044400	Enhancers	Pancreas	Pancrea
49	chr14:69042800-69044600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:69042800-69045000	Enhancers	Skeletal Muscle Male	skeletal muscle

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