Variant report

Variant	rs66599423
Chromosome Location	chr5:54051125-54051126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54037732..54040168-chr5:54049770..54052180,2	MCF-7	breast:
2	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
3	chr5:54044170..54046541-chr5:54049727..54052446,2	MCF-7	breast:
4	chr5:54049724..54052539-chr5:54057510..54059343,2	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	0.81[EUR][1000 genomes]
rs13436919	0.81[EUR][1000 genomes]
rs17346285	0.95[EUR][1000 genomes]
rs2121130	0.91[EUR][1000 genomes]
rs2166355	0.92[EUR][1000 genomes]
rs35463987	0.94[EUR][1000 genomes]
rs4274943	0.81[EUR][1000 genomes]
rs4355479	0.81[EUR][1000 genomes]
rs4380600	0.81[EUR][1000 genomes]
rs4425466	0.95[EUR][1000 genomes]
rs4472223	0.84[EUR][1000 genomes]
rs4526067	0.84[EUR][1000 genomes]
rs4572962	0.94[EUR][1000 genomes]
rs55728436	0.85[EUR][1000 genomes]
rs55944106	0.83[EUR][1000 genomes]
rs56145198	0.84[EUR][1000 genomes]
rs56202300	0.95[EUR][1000 genomes]
rs56207018	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56298453	0.83[EUR][1000 genomes]
rs56386053	0.95[EUR][1000 genomes]
rs57059470	0.82[EUR][1000 genomes]
rs57348772	0.80[EUR][1000 genomes]
rs60775366	0.81[EUR][1000 genomes]
rs6450249	0.84[EUR][1000 genomes]
rs66533726	0.92[EUR][1000 genomes]
rs66812968	0.85[EUR][1000 genomes]
rs67510332	0.92[EUR][1000 genomes]
rs6867643	0.96[EUR][1000 genomes]
rs6876730	0.81[EUR][1000 genomes]
rs6897534	0.87[EUR][1000 genomes]
rs72757444	0.85[EUR][1000 genomes]
rs72757446	0.84[EUR][1000 genomes]
rs72760107	0.81[EUR][1000 genomes]
rs7710436	0.96[EUR][1000 genomes]
rs7734384	0.81[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
4	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:54044800-54051800	Weak transcription	K562	blood
7	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:54048600-54054600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:54049000-54051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:54049000-54053600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:54049000-54056200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:54049200-54051800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:54049200-54052000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:54049200-54052200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:54049200-54052600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:54049200-54056200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:54049200-54057000	Weak transcription	Fetal Heart	heart
18	chr5:54049400-54051800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:54049400-54051800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:54049400-54052000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:54049400-54052000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:54049400-54052600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:54049400-54052800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:54049400-54052800	Weak transcription	HSMMtube	muscle
25	chr5:54049400-54052800	Weak transcription	Osteobl	bone
26	chr5:54049400-54053200	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:54049400-54053400	Weak transcription	HSMM	muscle
28	chr5:54049400-54055200	Weak transcription	Aorta	Aorta
29	chr5:54049400-54056400	Weak transcription	Left Ventricle	heart
30	chr5:54049600-54051800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:54049600-54051800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:54049600-54052000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:54049600-54052200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:54049600-54052600	Weak transcription	NHDF-Ad	bronchial
35	chr5:54050000-54051400	Enhancers	GM12878-XiMat	blood
36	chr5:54050000-54052800	Weak transcription	NHLF	lung
37	chr5:54050200-54051400	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:54050600-54053000	Enhancers	Primary B cells from cord blood	blood
39	chr5:54050800-54051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:54050800-54053000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:54051000-54051200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:54051000-54051400	Enhancers	Esophagus	oesophagus
43	chr5:54051000-54052200	Weak transcription	Lung	lung
44	chr5:54051000-54052800	Weak transcription	NH-A	brain
45	chr5:54051000-54053600	Enhancers	Primary T helper cells PMA-I stimulated	--

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