Variant report

Variant	rs10483147
Chromosome Location	chr22:28664124-28664125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16986165	1.00[AMR][1000 genomes]
rs16986186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16986234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57490474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60360755	1.00[AMR][1000 genomes]
rs73882719	1.00[AMR][1000 genomes]
rs73882722	1.00[AMR][1000 genomes]
rs73882723	1.00[AMR][1000 genomes]
rs73882724	1.00[AMR][1000 genomes]
rs7511189	1.00[AMR][1000 genomes]
rs995486	1.00[AMR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28653000-28664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:28653000-28665000	Weak transcription	Fetal Muscle Leg	muscle
4	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
5	chr22:28656800-28666000	Weak transcription	Small Intestine	intestine
6	chr22:28657000-28664200	Weak transcription	Brain Angular Gyrus	brain
7	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28659400-28671200	Weak transcription	Fetal Lung	lung
9	chr22:28662400-28665400	Enhancers	Psoas Muscle	Psoas
10	chr22:28662400-28665800	Enhancers	Adipose Nuclei	Adipose
11	chr22:28662400-28666200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:28662600-28665400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:28662800-28664200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:28662800-28666200	Enhancers	Colon Smooth Muscle	Colon
15	chr22:28662800-28671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:28662800-28671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:28663000-28665400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:28663000-28671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:28663400-28664400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:28663600-28664200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:28663600-28664200	Weak transcription	Left Ventricle	heart
22	chr22:28663800-28664400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:28663800-28665000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:28663800-28665600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:28664000-28664400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28664000-28664400	Enhancers	NHDF-Ad	bronchial
27	chr22:28664000-28664600	Enhancers	Aorta	Aorta
28	chr22:28664000-28664600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr22:28664000-28664800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:28664000-28666000	Enhancers	Right Ventricle	heart

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