Variant report

Variant	rs12478279
Chromosome Location	chr2:72359518-72359519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72358358..72361019-chr2:72364813..72366786,2	MCF-7	breast:
2	chr2:72357870..72360230-chr8:145063846..145066735,2	MCF-7	breast:
3	chr2:72357423..72359989-chr2:72817889..72819964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178685	Chromatin interaction
ENSG00000178719	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2420201	0.86[AMR][1000 genomes]
rs3768643	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6721986	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72353000-72363200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:72353600-72364600	Weak transcription	Right Atrium	heart
3	chr2:72354200-72360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:72354200-72364600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:72355000-72362000	Enhancers	Fetal Thymus	thymus
6	chr2:72356200-72363000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:72356200-72363200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:72356400-72365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:72357000-72359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:72357000-72362600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:72357400-72361600	Weak transcription	A549	lung
12	chr2:72357600-72361200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:72357600-72362800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:72357800-72365200	Weak transcription	Gastric	stomach
15	chr2:72358200-72359600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:72358200-72360200	Weak transcription	Fetal Brain Female	brain
17	chr2:72358200-72362000	Weak transcription	Fetal Lung	lung
18	chr2:72358200-72363000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:72358600-72360800	Genic enhancers	Placenta Amnion	Placenta Amnion
20	chr2:72358600-72361200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:72358800-72360600	Strong transcription	Spleen	Spleen
22	chr2:72358800-72362400	Strong transcription	Adipose Nuclei	Adipose
23	chr2:72358800-72364600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:72358800-72364800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:72359000-72360200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:72359000-72360400	Strong transcription	Aorta	Aorta
27	chr2:72359000-72363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:72359000-72363200	Weak transcription	Brain Angular Gyrus	brain
29	chr2:72359000-72364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:72359200-72360200	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr2:72359200-72362800	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:72359200-72363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:72359400-72360200	Weak transcription	Esophagus	oesophagus
34	chr2:72359400-72362400	Strong transcription	Right Ventricle	heart
35	chr2:72359400-72364600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:72359400-72370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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