Variant report

Variant	rs56207018
Chromosome Location	chr5:54052975-54052976
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	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:
2	chr5:54049192..54051114-chr5:54052944..54055675,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13436904	0.85[EUR][1000 genomes]
rs13436919	0.85[EUR][1000 genomes]
rs17346285	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2121130	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2166355	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35463987	0.98[EUR][1000 genomes]
rs4274943	0.85[EUR][1000 genomes]
rs4355479	0.85[EUR][1000 genomes]
rs4380600	0.85[EUR][1000 genomes]
rs4425466	0.99[EUR][1000 genomes]
rs4472223	0.88[EUR][1000 genomes]
rs4526067	0.88[EUR][1000 genomes]
rs4572962	0.98[EUR][1000 genomes]
rs55728436	0.89[EUR][1000 genomes]
rs55944106	0.87[EUR][1000 genomes]
rs56145198	0.88[EUR][1000 genomes]
rs56202300	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56298453	0.87[EUR][1000 genomes]
rs56386053	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57059470	0.86[EUR][1000 genomes]
rs57348772	0.84[EUR][1000 genomes]
rs60775366	0.85[EUR][1000 genomes]
rs6450249	0.88[EUR][1000 genomes]
rs66533726	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66599423	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66812968	0.89[EUR][1000 genomes]
rs67510332	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6867643	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876730	0.85[EUR][1000 genomes]
rs6897534	0.91[EUR][1000 genomes]
rs72757444	0.89[EUR][1000 genomes]
rs72757446	0.88[EUR][1000 genomes]
rs72760107	0.85[EUR][1000 genomes]
rs7710436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7734384	0.85[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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:54048600-54054600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:54049000-54053600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:54049000-54056200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:54049200-54056200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:54049200-54057000	Weak transcription	Fetal Heart	heart
8	chr5:54049400-54053200	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:54049400-54053400	Weak transcription	HSMM	muscle
10	chr5:54049400-54055200	Weak transcription	Aorta	Aorta
11	chr5:54049400-54056400	Weak transcription	Left Ventricle	heart
12	chr5:54050600-54053000	Enhancers	Primary B cells from cord blood	blood
13	chr5:54050800-54053000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:54051000-54053600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:54051600-54053000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:54051600-54053000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:54051800-54053000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:54051800-54053000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:54051800-54053200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:54051800-54053200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:54051800-54053400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:54051800-54053800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:54051800-54053800	Enhancers	HMEC	breast
24	chr5:54052000-54053000	Enhancers	Primary T cells from cord blood	blood
25	chr5:54052000-54053000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr5:54052000-54053000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:54052000-54053400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:54052000-54053600	Enhancers	NHEK	skin
29	chr5:54052000-54054200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:54052000-54054200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:54052200-54053000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:54052200-54054000	Enhancers	Brain Anterior Caudate	brain
33	chr5:54052200-54054200	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:54052200-54059800	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:54052400-54053000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:54052400-54054400	Enhancers	Brain Hippocampus Middle	brain
37	chr5:54052600-54053600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:54052600-54054600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:54052600-54058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:54052600-54058800	Enhancers	NHDF-Ad	bronchial
41	chr5:54052800-54053000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:54052800-54053000	Enhancers	NH-A	brain
43	chr5:54052800-54053000	Enhancers	NHLF	lung
44	chr5:54052800-54053200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:54052800-54054200	Enhancers	Brain Substantia Nigra	brain
46	chr5:54052800-54054200	Enhancers	HSMMtube	muscle
47	chr5:54052800-54054800	Enhancers	Osteobl	bone
48	chr5:54052800-54055000	Weak transcription	Primary monocytes fromperipheralblood	blood

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