Variant report

Variant	rs72757436
Chromosome Location	chr5:54048611-54048612
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54044930..54047645-chr5:54048300..54051015,2	K562	blood:
2	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
3	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1867688	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56020939	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146444	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72757433	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757442	1.00[ASN][1000 genomes]
rs72762223	1.00[ASN][1000 genomes]
rs72762225	1.00[ASN][1000 genomes]
rs72762245	1.00[ASN][1000 genomes]
rs7714829	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54040600-54050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:54041600-54048800	Weak transcription	NHLF	lung
5	chr5:54041800-54048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:54041800-54048800	Weak transcription	Fetal Heart	heart
7	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
8	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:54044800-54051800	Weak transcription	K562	blood
11	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:54047400-54049000	Weak transcription	Esophagus	oesophagus
13	chr5:54047600-54049600	Enhancers	Primary B cells from cord blood	blood
14	chr5:54047600-54049600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:54048400-54049000	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:54048600-54048800	Enhancers	Adipose Nuclei	Adipose
17	chr5:54048600-54048800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:54048600-54049000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:54048600-54049000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:54048600-54049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:54048600-54049400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:54048600-54049400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr5:54048600-54049400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:54048600-54049400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:54048600-54049400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:54048600-54049400	Enhancers	HSMM	muscle
27	chr5:54048600-54049400	Enhancers	HSMMtube	muscle
28	chr5:54048600-54049400	Enhancers	Osteobl	bone
29	chr5:54048600-54049600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr5:54048600-54049600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:54048600-54049600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:54048600-54049600	Enhancers	NHDF-Ad	bronchial
33	chr5:54048600-54050000	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:54048600-54051000	Enhancers	NH-A	brain
35	chr5:54048600-54054600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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