Variant report

Variant	rs62051558
Chromosome Location	chr16:72862128-72862129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72859578..72865320-chr16:73088952..73093229,7	MCF-7	breast:
2	chr16:72862066..72864756-chr16:72883193..72885070,2	MCF-7	breast:
3	chr16:72854800..72858382-chr16:72859997..72862205,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251868	Chromatin interaction
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62051527	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62051550	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62051555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62053163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62053185	1.00[AFR][1000 genomes]
rs62053186	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
4	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72835200-72867400	Weak transcription	NHEK	skin
7	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:72845800-72862200	Weak transcription	Colonic Mucosa	Colon
10	chr16:72845800-72863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:72845800-72863200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:72845800-72865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:72845800-72867000	Weak transcription	Ovary	ovary
14	chr16:72846000-72863200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:72846600-72863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
17	chr16:72852600-72866400	Weak transcription	Brain Anterior Caudate	brain
18	chr16:72854000-72864000	Weak transcription	NH-A	brain
19	chr16:72854200-72867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:72854400-72867000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:72854600-72862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:72854800-72862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:72855200-72863400	Weak transcription	NHDF-Ad	bronchial
24	chr16:72855800-72874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:72856800-72866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:72857400-72864200	Weak transcription	Psoas Muscle	Psoas
27	chr16:72858400-72862600	Strong transcription	HSMM	muscle
28	chr16:72858400-72866200	Strong transcription	HepG2	liver
29	chr16:72858800-72862200	Strong transcription	A549	lung
30	chr16:72858800-72862800	Enhancers	Liver	Liver
31	chr16:72858800-72863800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:72858800-72865400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:72859000-72864000	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:72859200-72865400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:72859200-72874200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr16:72859200-72874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:72859200-72874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:72859600-72874200	Weak transcription	Lung	lung
39	chr16:72860200-72869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:72860600-72864200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr16:72860800-72862400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:72860800-72862400	Enhancers	Colon Smooth Muscle	Colon
43	chr16:72860800-72863800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:72860800-72863800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr16:72861200-72874600	Weak transcription	Adipose Nuclei	Adipose
46	chr16:72861400-72862800	Enhancers	Placenta	Placenta
47	chr16:72861400-72863000	Genic enhancers	Fetal Stomach	stomach
48	chr16:72861400-72863400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:72861400-72863800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:72861400-72864200	Genic enhancers	Stomach Smooth Muscle	stomach

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