Variant report

Variant	rs73280648
Chromosome Location	chr14:64064869-64064870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs28594107	1.00[EUR][1000 genomes]
rs57382236	1.00[EUR][1000 genomes]
rs59574119	1.00[EUR][1000 genomes]
rs60622367	1.00[EUR][1000 genomes]
rs60770727	1.00[EUR][1000 genomes]
rs61294226	1.00[EUR][1000 genomes]
rs61302639	1.00[EUR][1000 genomes]
rs6573526	1.00[EUR][1000 genomes]
rs6573527	1.00[EUR][1000 genomes]
rs7152052	1.00[EUR][1000 genomes]
rs7154057	1.00[EUR][1000 genomes]
rs7154795	1.00[EUR][1000 genomes]
rs7155345	1.00[EUR][1000 genomes]
rs73263609	1.00[EUR][1000 genomes]
rs73263615	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73263621	1.00[EUR][1000 genomes]
rs73263701	1.00[EUR][1000 genomes]
rs73265704	1.00[EUR][1000 genomes]
rs73265710	1.00[EUR][1000 genomes]
rs73265721	1.00[EUR][1000 genomes]
rs73265728	1.00[EUR][1000 genomes]
rs73265735	1.00[EUR][1000 genomes]
rs73265739	1.00[EUR][1000 genomes]
rs73267623	1.00[EUR][1000 genomes]
rs73280651	1.00[EUR][1000 genomes]
rs74060101	1.00[EUR][1000 genomes]
rs8004836	1.00[EUR][1000 genomes]
rs8010598	1.00[EUR][1000 genomes]
rs8012866	1.00[EUR][1000 genomes]
rs8018439	1.00[EUR][1000 genomes]
rs8018580	1.00[EUR][1000 genomes]
rs8020030	1.00[EUR][1000 genomes]
rs8020691	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64059200-64065600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:64061000-64065400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:64061200-64065400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:64061200-64065600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:64061400-64065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:64061400-64065200	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr14:64061600-64065200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:64061800-64065200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:64061800-64065200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:64061800-64065200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:64061800-64065600	Weak transcription	Ovary	ovary
13	chr14:64062000-64065000	Weak transcription	HSMM	muscle
14	chr14:64062000-64065200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:64062000-64065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:64062000-64065400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:64062000-64065400	Weak transcription	Fetal Lung	lung
18	chr14:64062000-64065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:64062000-64065600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:64062000-64065600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:64062000-64065600	Weak transcription	Pancreas	Pancrea
22	chr14:64062000-64065600	Weak transcription	Right Ventricle	heart
23	chr14:64062000-64065600	Weak transcription	HSMMtube	muscle
24	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
25	chr14:64062200-64065400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:64062200-64065400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:64062200-64065400	Weak transcription	Liver	Liver
28	chr14:64062200-64065400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:64062200-64065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:64062200-64065400	Weak transcription	Stomach Mucosa	stomach
31	chr14:64062200-64065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:64062200-64065600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:64062200-64065600	Weak transcription	Gastric	stomach
34	chr14:64062200-64065600	Weak transcription	Left Ventricle	heart
35	chr14:64062200-64065600	Weak transcription	Lung	lung
36	chr14:64062200-64065600	Weak transcription	Thymus	Thymus
37	chr14:64062200-64067800	Weak transcription	Colonic Mucosa	Colon
38	chr14:64062200-64068600	Weak transcription	Fetal Stomach	stomach
39	chr14:64062200-64070000	Weak transcription	Fetal Brain Female	brain
40	chr14:64062200-64070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:64062200-64071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:64062200-64077800	Weak transcription	Esophagus	oesophagus
43	chr14:64062200-64082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:64062400-64065400	Weak transcription	Placenta	Placenta
46	chr14:64062400-64065600	Weak transcription	Fetal Brain Male	brain
47	chr14:64062400-64065600	Weak transcription	NH-A	brain
48	chr14:64062400-64065600	Weak transcription	NHEK	skin
49	chr14:64062400-64066000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:64062600-64065200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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