Variant report

Variant	rs59785286
Chromosome Location	chr5:79488475-79488476
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79487734..79489719-chr5:79551406..79553742,2	K562	blood:
2	chr5:79488184..79489719-chr5:79552242..79554634,2	K562	blood:
3	chr5:79482072..79483906-chr5:79486254..79488655,2	K562	blood:
4	chr5:79485439..79488604-chr5:79489271..79493639,4	K562	blood:
5	chr5:79486187..79489980-chr5:79497406..79500958,4	K562	blood:
6	chr5:79468932..79471004-chr5:79487932..79490106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55893446	0.82[AFR][1000 genomes]
rs59080418	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770707	1.00[AMR][1000 genomes]
rs73772243	0.91[AFR][1000 genomes]
rs73774210	1.00[AMR][1000 genomes]
rs73774229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774233	1.00[AMR][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79480200-79492400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:79481200-79490800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:79482200-79489800	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:79482200-79491000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:79483400-79488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:79483800-79496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:79483800-79498200	Weak transcription	NHEK	skin
8	chr5:79485000-79490800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:79485200-79490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:79485400-79488600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:79485400-79491000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:79485600-79489000	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:79485600-79489400	Weak transcription	Ovary	ovary
14	chr5:79485600-79490400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:79485800-79490600	Enhancers	Dnd41	blood
16	chr5:79485800-79490800	Enhancers	Primary B cells from cord blood	blood
17	chr5:79486000-79491600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:79486200-79488600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:79486400-79488800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:79486400-79489200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:79486400-79490800	Enhancers	Fetal Muscle Leg	muscle
22	chr5:79486400-79492000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:79486600-79490800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr5:79486600-79490800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:79486600-79492000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:79487000-79488800	Enhancers	GM12878-XiMat	blood
27	chr5:79487200-79489200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:79487200-79491000	Enhancers	Placenta	Placenta
29	chr5:79487400-79490800	Enhancers	Adipose Nuclei	Adipose
30	chr5:79487400-79491000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:79487600-79488600	Enhancers	Brain Angular Gyrus	brain
32	chr5:79487600-79488600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr5:79487600-79488600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr5:79487600-79488600	Enhancers	Rectal Smooth Muscle	rectum
35	chr5:79487600-79488600	Flanking Active TSS	HSMMtube	muscle
36	chr5:79487600-79488800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:79487600-79488800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:79487600-79488800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:79487600-79488800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:79487600-79489000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:79487600-79489000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:79487600-79489000	Flanking Active TSS	Fetal Lung	lung
43	chr5:79487600-79489200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr5:79487600-79489400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:79487600-79489600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:79487600-79489600	Enhancers	Aorta	Aorta
47	chr5:79487600-79489600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr5:79487600-79489600	Enhancers	Fetal Intestine Small	intestine
49	chr5:79487600-79489600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:79487600-79489600	Enhancers	NH-A	brain

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