Variant report

Variant	rs13056319
Chromosome Location	chr22:28678027-28678028
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13054508	1.00[CEU][hapmap]
rs13055501	0.82[AFR][1000 genomes]
rs13056121	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13056425	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13057182	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13057685	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13057692	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13058473	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs16986197	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2142917	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28360522	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34453094	1.00[EUR][1000 genomes]
rs34783791	0.94[EUR][1000 genomes]
rs34925495	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34962554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35051985	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35286648	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs35738822	0.94[EUR][1000 genomes]
rs35812775	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325290	0.88[EUR][1000 genomes]
rs7286202	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs8138142	0.95[AFR][1000 genomes]
rs8141981	0.82[AFR][1000 genomes]
rs8142398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:25 , 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	chr22:28672200-28678400	Weak transcription	Fetal Stomach	stomach
6	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas
7	chr22:28672800-28678800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:28674200-28679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:28677600-28680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:28677600-28680200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:28677600-28680200	Enhancers	NHLF	lung
12	chr22:28677600-28680200	Enhancers	Osteobl	bone
13	chr22:28677800-28678200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:28677800-28678600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:28677800-28678600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr22:28677800-28679400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:28677800-28679600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:28677800-28679800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:28677800-28680000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:28677800-28680200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr22:28678000-28678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:28678000-28679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:28678000-28679800	Enhancers	HSMM	muscle
24	chr22:28678000-28680000	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:28678000-28680200	Enhancers	NHDF-Ad	bronchial

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