Variant report

Variant	rs5762552
Chromosome Location	chr22:28699124-28699125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs134174	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs134187	0.95[CHB][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs135640	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs5762481	0.95[CHB][hapmap]
rs5762549	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28680200-28702000	Weak transcription	Osteobl	bone
2	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:28690000-28702200	Weak transcription	Fetal Intestine Large	intestine
4	chr22:28693200-28705600	Weak transcription	HepG2	liver
5	chr22:28693800-28702200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28693800-28704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:28693800-28709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
9	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:28694000-28705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:28694400-28704200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:28694600-28711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28695600-28702800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:28695800-28699200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:28695800-28700200	Weak transcription	Dnd41	blood
16	chr22:28696000-28704000	Weak transcription	Fetal Brain Female	brain
17	chr22:28696200-28699600	Weak transcription	Fetal Brain Male	brain
18	chr22:28696200-28700200	Weak transcription	Brain Anterior Caudate	brain
19	chr22:28696200-28700600	Weak transcription	Right Ventricle	heart
20	chr22:28696200-28701000	Weak transcription	Ovary	ovary
21	chr22:28696200-28703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:28696200-28703400	Weak transcription	Left Ventricle	heart
23	chr22:28696200-28705600	Weak transcription	Aorta	Aorta
24	chr22:28696200-28711800	Weak transcription	Gastric	stomach
25	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
26	chr22:28696400-28702000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:28696400-28704000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:28696400-28704600	Weak transcription	Adipose Nuclei	Adipose
29	chr22:28696400-28705800	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:28696800-28704600	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:28697000-28704000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:28698200-28699200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:28698200-28699600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:28698400-28702800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:28698800-28700600	Weak transcription	Fetal Muscle Leg	muscle

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