Variant report

Variant	rs73282130
Chromosome Location	chr14:70991705-70991706
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	chr14:70866335..70868798-chr14:70990397..70993089,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10151236	1.00[EUR][1000 genomes]
rs11621219	1.00[EUR][1000 genomes]
rs12434063	1.00[EUR][1000 genomes]
rs2095806	1.00[EUR][1000 genomes]
rs2332376	1.00[EUR][1000 genomes]
rs2332383	1.00[EUR][1000 genomes]
rs2332385	1.00[EUR][1000 genomes]
rs2332386	1.00[EUR][1000 genomes]
rs55865251	1.00[EUR][1000 genomes]
rs56698163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57082239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57486211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57957300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58669540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59242599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59853961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60598858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144255	1.00[EUR][1000 genomes]
rs7148128	1.00[EUR][1000 genomes]
rs7160707	1.00[EUR][1000 genomes]
rs73282125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013510	1.00[EUR][1000 genomes]
rs8015825	1.00[EUR][1000 genomes]
rs8016729	1.00[EUR][1000 genomes]
rs8020995	1.00[EUR][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	nsv565042	chr14:70951234-71011734	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1050615	chr14:70954149-71013235	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2763072	chr14:70954149-71013247	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70958800-70993800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:70981200-70994400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70982000-71003600	Weak transcription	HSMM	muscle
4	chr14:70982400-71003200	Weak transcription	Psoas Muscle	Psoas
5	chr14:70985800-71003800	Weak transcription	HSMMtube	muscle
6	chr14:70986000-70991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:70987600-70993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:70987800-70995800	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:70987800-71005800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:70988000-71028200	Weak transcription	Esophagus	oesophagus
11	chr14:70988000-71029800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:70988400-70994600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:70988400-71003800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:70988600-70993000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:70988600-70993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70988600-70997000	Weak transcription	Placenta	Placenta
17	chr14:70988800-71028800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:70989400-70991800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:70989400-70991800	Strong transcription	Liver	Liver
20	chr14:70989400-70991800	Strong transcription	Left Ventricle	heart
21	chr14:70989400-70991800	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:70989400-70992000	Strong transcription	Adipose Nuclei	Adipose
23	chr14:70989600-70992200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:70989800-70991800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:70990000-70991800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:70990000-70993000	Weak transcription	Fetal Heart	heart
27	chr14:70990200-70992600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:70990400-70992800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:70990400-70994800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:70990400-71029600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:70990600-70991800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr14:70991200-71006400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:70991400-70993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:70991400-70993200	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:70991400-70999400	Weak transcription	Primary T cells from cord blood	blood
36	chr14:70991400-71003800	Weak transcription	Brain Substantia Nigra	brain
37	chr14:70991400-71028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:70991600-70993400	Weak transcription	Fetal Stomach	stomach
39	chr14:70991600-70993400	Weak transcription	Gastric	stomach
40	chr14:70991600-70993800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:70991600-70994400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:70991600-70995200	Weak transcription	Lung	lung
43	chr14:70991600-70996800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:70991600-70998800	Weak transcription	Brain Anterior Caudate	brain
45	chr14:70991600-70999000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:70991600-70999200	Weak transcription	Brain Angular Gyrus	brain
47	chr14:70991600-71001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:70991600-71003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:70991600-71003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:70991600-71003800	Weak transcription	Aorta	Aorta

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