Variant report

Variant	rs5997329
Chromosome Location	chr22:28471409-28471410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12157776	1.00[AMR][1000 genomes]
rs12158391	1.00[AMR][1000 genomes]
rs12159201	1.00[AMR][1000 genomes]
rs12159396	1.00[AMR][1000 genomes]
rs5997339	1.00[AMR][1000 genomes]
rs5997340	1.00[AMR][1000 genomes]
rs6005707	1.00[AMR][1000 genomes]
rs6005718	1.00[AMR][1000 genomes]
rs6005753	1.00[AMR][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:71 , 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	chr22:28466000-28471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr22:28466200-28471800	Strong transcription	Dnd41	blood
5	chr22:28466400-28489800	Weak transcription	Fetal Brain Male	brain
6	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
7	chr22:28468600-28477200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:28468600-28489800	Weak transcription	Fetal Kidney	kidney
9	chr22:28468800-28480000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:28469000-28480000	Weak transcription	Fetal Brain Female	brain
11	chr22:28469400-28472800	Enhancers	Fetal Heart	heart
12	chr22:28470000-28474000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28470000-28475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:28470000-28486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:28470400-28471800	Enhancers	Left Ventricle	heart
16	chr22:28470400-28472000	Enhancers	Fetal Thymus	thymus
17	chr22:28470400-28472000	Enhancers	Right Atrium	heart
18	chr22:28470400-28472000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr22:28470400-28472000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:28470400-28472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:28470400-28472200	Enhancers	Pancreas	Pancrea
22	chr22:28470400-28472400	Enhancers	Fetal Intestine Small	intestine
23	chr22:28470400-28473200	Enhancers	Fetal Intestine Large	intestine
24	chr22:28470600-28471800	Enhancers	Adipose Nuclei	Adipose
25	chr22:28470600-28471800	Enhancers	Osteobl	bone
26	chr22:28470800-28471800	Enhancers	Lung	lung
27	chr22:28470800-28472000	Enhancers	Psoas Muscle	Psoas
28	chr22:28470800-28472000	Enhancers	Right Ventricle	heart
29	chr22:28470800-28474200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:28471000-28471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:28471000-28472200	Enhancers	Gastric	stomach
32	chr22:28471200-28471600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:28471200-28471600	Enhancers	Brain Angular Gyrus	brain
34	chr22:28471200-28471600	Enhancers	Brain Anterior Caudate	brain
35	chr22:28471200-28471600	Enhancers	Brain Hippocampus Middle	brain
36	chr22:28471200-28471600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr22:28471200-28471600	Enhancers	Brain Substantia Nigra	brain
38	chr22:28471200-28471600	Enhancers	Stomach Smooth Muscle	stomach
39	chr22:28471200-28471800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:28471200-28471800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:28471200-28471800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:28471200-28471800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:28471200-28471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:28471200-28471800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:28471200-28471800	Enhancers	Aorta	Aorta
46	chr22:28471200-28471800	Enhancers	Brain Cingulate Gyrus	brain
47	chr22:28471200-28471800	Enhancers	HSMM	muscle
48	chr22:28471200-28471800	Enhancers	HSMMtube	muscle
49	chr22:28471200-28471800	Enhancers	NH-A	brain
50	chr22:28471200-28471800	Enhancers	NHLF	lung

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