Variant report

Variant	rs56146444
Chromosome Location	chr5:54034691-54034692
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54027207..54029848-chr5:54032087..54034780,2	K562	blood:
2	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12153445	0.83[EUR][1000 genomes]
rs1867688	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4342278	0.83[EUR][1000 genomes]
rs56020939	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58082608	0.86[EUR][1000 genomes]
rs6450241	0.85[EUR][1000 genomes]
rs6869164	0.88[EUR][1000 genomes]
rs72757405	0.85[EUR][1000 genomes]
rs72757411	0.85[EUR][1000 genomes]
rs72757433	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72757436	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7714829	0.94[AMR][1000 genomes];0.95[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:54032600-54037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:54032600-54038200	Weak transcription	Fetal Heart	heart
5	chr5:54032600-54038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:54033600-54034800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:54033800-54034800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:54033800-54034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:54033800-54037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:54034000-54034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:54034000-54034800	Flanking Active TSS	K562	blood
12	chr5:54034200-54035600	Enhancers	NHLF	lung
13	chr5:54034200-54037800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:54034200-54038200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:54034200-54038200	Weak transcription	HSMM	muscle
16	chr5:54034200-54038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:54034200-54038400	Weak transcription	Fetal Lung	lung
18	chr5:54034200-54039000	Enhancers	NHDF-Ad	bronchial
19	chr5:54034200-54039600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:54034200-54040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:54034400-54034800	Enhancers	Primary T cells from cord blood	blood
22	chr5:54034400-54036000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:54034400-54036000	Weak transcription	Spleen	Spleen
24	chr5:54034400-54036800	Weak transcription	Gastric	stomach
25	chr5:54034400-54037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:54034400-54037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:54034400-54037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:54034400-54037600	Weak transcription	Osteobl	bone
29	chr5:54034400-54038200	Weak transcription	Adipose Nuclei	Adipose
30	chr5:54034400-54038200	Weak transcription	Left Ventricle	heart
31	chr5:54034400-54038200	Weak transcription	Small Intestine	intestine
32	chr5:54034400-54038200	Weak transcription	Stomach Mucosa	stomach
33	chr5:54034400-54039400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:54034400-54039800	Weak transcription	Esophagus	oesophagus
35	chr5:54034400-54039800	Weak transcription	Fetal Stomach	stomach
36	chr5:54034400-54039800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:54034600-54036800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:54034600-54037400	Weak transcription	Hela-S3	cervix
39	chr5:54034600-54037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:54034600-54037800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:54034600-54038000	Weak transcription	Placenta	Placenta
42	chr5:54034600-54038200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:54034600-54038200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:54034600-54038200	Weak transcription	Right Atrium	heart
45	chr5:54034600-54038200	Weak transcription	Right Ventricle	heart
46	chr5:54034600-54038200	Weak transcription	HUVEC	blood vessel
47	chr5:54034600-54039200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:54034600-54039600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:54034600-54039800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:54034600-54041400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links