Variant report

Variant	rs5762549
Chromosome Location	chr22:28693496-28693497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs134174	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs134184	0.81[JPT][hapmap]
rs134185	0.91[JPT][hapmap]
rs134187	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs135640	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4820782	0.82[JPT][hapmap]
rs5762481	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5762552	0.95[CHB][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28679400-28695800	Weak transcription	Aorta	Aorta
2	chr22:28680200-28696000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:28680200-28696000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28680200-28702000	Weak transcription	Osteobl	bone
5	chr22:28681600-28695200	Weak transcription	Fetal Lung	lung
6	chr22:28683400-28698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:28686400-28695400	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:28688600-28695400	Weak transcription	Ovary	ovary
10	chr22:28688800-28695000	Weak transcription	Fetal Brain Female	brain
11	chr22:28689200-28693600	Weak transcription	Left Ventricle	heart
12	chr22:28689600-28693600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:28690000-28693600	Weak transcription	NHLF	lung
14	chr22:28690000-28702200	Weak transcription	Fetal Intestine Large	intestine
15	chr22:28690600-28695800	Strong transcription	Dnd41	blood
16	chr22:28691000-28693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28691600-28693800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:28692000-28695400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:28692000-28695400	Weak transcription	Adipose Nuclei	Adipose
20	chr22:28692200-28698000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:28692600-28694200	Enhancers	Liver	Liver
22	chr22:28692800-28693600	Enhancers	Primary hematopoietic stem cells	blood
23	chr22:28692800-28693600	Enhancers	Brain Anterior Caudate	brain
24	chr22:28692800-28694000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28692800-28694200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:28692800-28694200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:28693000-28693800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:28693000-28696800	Enhancers	Brain Hippocampus Middle	brain
29	chr22:28693200-28693600	Enhancers	Brain Angular Gyrus	brain
30	chr22:28693200-28693800	Strong transcription	Fetal Stomach	stomach
31	chr22:28693200-28694800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:28693200-28705600	Weak transcription	HepG2	liver
33	chr22:28693400-28693600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr22:28693400-28693800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr22:28693400-28693800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr22:28693400-28693800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:28693400-28693800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:28693400-28693800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:28693400-28694000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:28693400-28694200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr22:28693400-28694200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr22:28693400-28694200	Enhancers	HSMMtube	muscle

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