Variant report

Variant	rs34962554
Chromosome Location	chr22:28679071-28679072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13056121	0.94[EUR][1000 genomes]
rs13056319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056425	0.94[EUR][1000 genomes]
rs13057182	1.00[EUR][1000 genomes]
rs13057685	0.85[EUR][1000 genomes]
rs13057692	0.88[EUR][1000 genomes]
rs13058473	0.94[EUR][1000 genomes]
rs16986197	0.97[EUR][1000 genomes]
rs2142917	0.94[EUR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34364992	0.88[AFR][1000 genomes]
rs34453094	1.00[EUR][1000 genomes]
rs34783791	0.94[EUR][1000 genomes]
rs34925495	0.94[EUR][1000 genomes]
rs35051985	1.00[EUR][1000 genomes]
rs35719457	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35738822	0.94[EUR][1000 genomes]
rs35812775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325290	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8142398	0.85[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:32 , 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	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas
6	chr22:28677600-28680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:28677600-28680200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:28677600-28680200	Enhancers	NHLF	lung
9	chr22:28677600-28680200	Enhancers	Osteobl	bone
10	chr22:28677800-28679400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:28677800-28679600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:28677800-28679800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:28677800-28680000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:28677800-28680200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:28678000-28679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:28678000-28679800	Enhancers	HSMM	muscle
17	chr22:28678000-28680000	Weak transcription	Fetal Muscle Leg	muscle
18	chr22:28678000-28680200	Enhancers	NHDF-Ad	bronchial
19	chr22:28678400-28680000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:28678400-28680000	Enhancers	HMEC	breast
21	chr22:28678400-28680200	Enhancers	Adipose Nuclei	Adipose
22	chr22:28678600-28679400	Enhancers	Fetal Brain Male	brain
23	chr22:28678600-28680000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:28678800-28680200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr22:28678800-28680400	Enhancers	HUVEC	blood vessel
26	chr22:28679000-28679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:28679000-28679200	Enhancers	Fetal Stomach	stomach
28	chr22:28679000-28679400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr22:28679000-28679400	Enhancers	NH-A	brain
30	chr22:28679000-28680000	Enhancers	NHEK	skin
31	chr22:28679000-28680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:28679000-28680400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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