Variant report

Variant	rs55802118
Chromosome Location	chr22:28471038-28471039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56051821	1.00[AFR][1000 genomes]
rs56185522	0.88[AFR][1000 genomes]
rs58519712	0.83[AFR][1000 genomes]
rs60418495	1.00[AFR][1000 genomes]
rs73880343	0.83[AFR][1000 genomes]
rs73880346	0.83[AFR][1000 genomes]
rs73880366	1.00[AFR][1000 genomes]
rs73880368	1.00[AFR][1000 genomes]
rs73880378	1.00[AFR][1000 genomes]
rs73880379	1.00[AFR][1000 genomes]
rs73880380	1.00[AFR][1000 genomes]
rs73880391	0.94[AFR][1000 genomes]
rs73880394	0.80[AFR][1000 genomes]
rs73880400	0.88[AFR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
2	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
7	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
8	chr22:28459600-28471400	Weak transcription	HepG2	liver
9	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
10	chr22:28461600-28471200	Weak transcription	Ovary	ovary
11	chr22:28462000-28471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:28463000-28471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:28465400-28471200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:28465400-28471200	Weak transcription	HSMMtube	muscle
15	chr22:28465800-28471400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:28466000-28471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:28466200-28471800	Strong transcription	Dnd41	blood
18	chr22:28466400-28471200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:28466400-28471200	Weak transcription	NHLF	lung
20	chr22:28466400-28489800	Weak transcription	Fetal Brain Male	brain
21	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
22	chr22:28467800-28471200	Weak transcription	Brain Substantia Nigra	brain
23	chr22:28468000-28471200	Strong transcription	Fetal Stomach	stomach
24	chr22:28468400-28471200	Weak transcription	Fetal Lung	lung
25	chr22:28468400-28471200	Weak transcription	NHDF-Ad	bronchial
26	chr22:28468600-28471200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:28468600-28477200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:28468600-28489800	Weak transcription	Fetal Kidney	kidney
29	chr22:28468800-28480000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:28469000-28471200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:28469000-28471200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:28469000-28480000	Weak transcription	Fetal Brain Female	brain
33	chr22:28469400-28472800	Enhancers	Fetal Heart	heart
34	chr22:28470000-28471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:28470000-28471200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:28470000-28474000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28470000-28475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:28470000-28486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:28470400-28471800	Enhancers	Left Ventricle	heart
40	chr22:28470400-28472000	Enhancers	Fetal Thymus	thymus
41	chr22:28470400-28472000	Enhancers	Right Atrium	heart
42	chr22:28470400-28472000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr22:28470400-28472000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr22:28470400-28472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:28470400-28472200	Enhancers	Pancreas	Pancrea
46	chr22:28470400-28472400	Enhancers	Fetal Intestine Small	intestine
47	chr22:28470400-28473200	Enhancers	Fetal Intestine Large	intestine
48	chr22:28470600-28471200	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:28470600-28471800	Enhancers	Adipose Nuclei	Adipose
50	chr22:28470600-28471800	Enhancers	Osteobl	bone

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