Variant report

Variant	rs6005753
Chromosome Location	chr22:28680138-28680139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12157776	1.00[AMR][1000 genomes]
rs12158391	1.00[AMR][1000 genomes]
rs12159396	1.00[AMR][1000 genomes]
rs12160801	1.00[AFR][1000 genomes]
rs12161029	1.00[AMR][1000 genomes]
rs5997329	1.00[AMR][1000 genomes]
rs5997339	1.00[AMR][1000 genomes]
rs5997340	1.00[AMR][1000 genomes]
rs5997353	1.00[AFR][1000 genomes]
rs6005707	1.00[AMR][1000 genomes]
rs6005718	1.00[AMR][1000 genomes]
rs6005761	1.00[AFR][1000 genomes]
rs6005787	1.00[AMR][1000 genomes]
rs6005791	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:28672000-28681000	Weak transcription	Fetal Lung	lung
5	chr22:28677600-28680200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:28677600-28680200	Enhancers	NHLF	lung
7	chr22:28677600-28680200	Enhancers	Osteobl	bone
8	chr22:28677800-28680200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr22:28678000-28680200	Enhancers	NHDF-Ad	bronchial
10	chr22:28678400-28680200	Enhancers	Adipose Nuclei	Adipose
11	chr22:28678800-28680200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr22:28678800-28680400	Enhancers	HUVEC	blood vessel
13	chr22:28679000-28680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:28679000-28680400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr22:28679200-28693200	Weak transcription	Fetal Stomach	stomach
16	chr22:28679400-28680200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:28679400-28680600	Weak transcription	Fetal Brain Male	brain
18	chr22:28679400-28695800	Weak transcription	Aorta	Aorta
19	chr22:28679800-28680200	Enhancers	Psoas Muscle	Psoas
20	chr22:28680000-28680200	Weak transcription	Fetal Heart	heart
21	chr22:28680000-28680400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:28680000-28692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:28680000-28693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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