Variant report

Variant	rs60594327
Chromosome Location	chr14:69246577-69246578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69171540..69174510-chr14:69246055..69248533,2	MCF-7	breast:
2	chr14:69132196..69134368-chr14:69245052..69247139,3	MCF-7	breast:
3	chr14:69124488..69126263-chr14:69245986..69248780,2	MCF-7	breast:
4	chr14:69231839..69233779-chr14:69245247..69247315,2	K562	blood:
5	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
6	chr14:68606423..68608591-chr14:69246118..69247661,2	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]
rs28523846	0.86[ASN][1000 genomes]
rs55876724	1.00[ASN][1000 genomes]
rs56232028	0.95[AFR][1000 genomes]
rs59525232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59745064	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
2	chr14:69233400-69247000	Weak transcription	Liver	Liver
3	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:69240000-69247000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:69242800-69247000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:69243800-69246800	Weak transcription	Spleen	Spleen
9	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:69244400-69246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:69244400-69246800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:69244400-69247000	Enhancers	HSMM	muscle
15	chr14:69244400-69248600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:69244400-69248600	Enhancers	HSMMtube	muscle
17	chr14:69244400-69248600	Enhancers	NHLF	lung
18	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
19	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
20	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
21	chr14:69244600-69246600	Enhancers	NHDF-Ad	bronchial
22	chr14:69244600-69249600	Enhancers	Fetal Heart	heart
23	chr14:69244600-69250000	Enhancers	Fetal Lung	lung
24	chr14:69244800-69246600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:69244800-69246600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr14:69244800-69246800	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:69244800-69246800	Enhancers	NH-A	brain
28	chr14:69244800-69247000	Enhancers	Adipose Nuclei	Adipose
29	chr14:69244800-69249400	Enhancers	Colon Smooth Muscle	Colon
30	chr14:69245000-69246800	Enhancers	Osteobl	bone
31	chr14:69245000-69249000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:69245000-69249600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:69245000-69249800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:69245200-69246600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:69245200-69247000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:69245200-69250200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr14:69245400-69249400	Enhancers	HUVEC	blood vessel
38	chr14:69245600-69246800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:69245600-69246800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:69245600-69247000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:69245600-69247000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:69245600-69248400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:69245600-69248400	Enhancers	Psoas Muscle	Psoas
44	chr14:69245600-69248400	Enhancers	HMEC	breast
45	chr14:69245600-69250200	Enhancers	Pancreas	Pancrea
46	chr14:69245600-69253200	Enhancers	Fetal Thymus	thymus
47	chr14:69245800-69246600	Enhancers	Rectal Smooth Muscle	rectum
48	chr14:69245800-69246600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:69245800-69246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:69245800-69246800	Enhancers	Skeletal Muscle Male	skeletal muscle

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