Variant report

Variant	rs72728002
Chromosome Location	chr14:70488005-70488006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005543	0.97[ASN][1000 genomes]
rs1156443	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1156446	0.83[AMR][1000 genomes]
rs12101270	0.81[AMR][1000 genomes]
rs12436175	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885068	0.81[AMR][1000 genomes]
rs12887943	0.81[AMR][1000 genomes]
rs12890357	0.81[AMR][1000 genomes]
rs17107547	0.81[AMR][1000 genomes]
rs17107635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17107637	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17107651	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1998334	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2281663	0.98[ASN][1000 genomes]
rs34311408	0.81[AMR][1000 genomes]
rs3742912	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3825739	0.81[AMR][1000 genomes]
rs55784307	0.83[AMR][1000 genomes]
rs56242824	0.81[AMR][1000 genomes]
rs57609901	0.81[AMR][1000 genomes]
rs59662605	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60011612	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67294558	0.81[AMR][1000 genomes]
rs72729803	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729808	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010305	0.91[ASN][1000 genomes]
rs8016522	0.97[ASN][1000 genomes]
rs8019103	0.86[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
3	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70482200-70488200	Weak transcription	HepG2	liver
6	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
10	chr14:70485800-70489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
13	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
14	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70486000-70488600	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:70486000-70488800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70486000-70488800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
19	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
20	chr14:70486200-70488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:70486200-70488800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:70486200-70489000	Weak transcription	NHEK	skin
23	chr14:70486400-70489000	Weak transcription	HMEC	breast
24	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
26	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:70487000-70488200	Enhancers	Brain Substantia Nigra	brain
30	chr14:70487000-70488400	Enhancers	Placenta	Placenta
31	chr14:70487000-70494400	Strong transcription	Liver	Liver
32	chr14:70487200-70488200	Enhancers	Brain Anterior Caudate	brain
33	chr14:70487200-70488200	Enhancers	Brain Hippocampus Middle	brain
34	chr14:70487200-70488400	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:70487200-70488400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:70487200-70488600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:70487400-70488200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:70487400-70488200	Enhancers	Brain Angular Gyrus	brain
39	chr14:70487400-70489200	Enhancers	Adipose Nuclei	Adipose
40	chr14:70487600-70489400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:70487800-70489200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:70487800-70491800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:70487800-70494200	Weak transcription	Fetal Stomach	stomach
44	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:70488000-70489000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:70488000-70489600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:70488000-70498600	Weak transcription	Gastric	stomach

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