Variant report

Variant	rs79111
Chromosome Location	chr22:28725664-28725665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.90[EUR][1000 genomes]
rs134503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs135649	0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986311	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	1.00[EUR][1000 genomes]
rs35438111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
2	chr22:28724000-28725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:28724800-28725800	Enhancers	NHEK	skin
4	chr22:28724800-28726400	Enhancers	Osteobl	bone
5	chr22:28724800-28727800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:28724800-28729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28725000-28725800	Enhancers	HMEC	breast
8	chr22:28725000-28726000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:28725000-28726600	Enhancers	Fetal Brain Female	brain
10	chr22:28725200-28726000	Enhancers	Brain Anterior Caudate	brain
11	chr22:28725200-28726000	Enhancers	Brain Cingulate Gyrus	brain
12	chr22:28725200-28726000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:28725200-28726200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:28725200-28726200	Enhancers	Brain Substantia Nigra	brain
15	chr22:28725200-28726600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:28725200-28726600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:28725200-28726600	Enhancers	Fetal Brain Male	brain
18	chr22:28725200-28726600	Enhancers	NHDF-Ad	bronchial
19	chr22:28725400-28725800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:28725400-28725800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:28725400-28725800	Enhancers	Fetal Heart	heart
22	chr22:28725400-28725800	Enhancers	Fetal Kidney	kidney
23	chr22:28725400-28725800	Enhancers	Fetal Lung	lung
24	chr22:28725400-28725800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:28725400-28726200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:28725400-28726400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:28725400-28726400	Enhancers	Adipose Nuclei	Adipose
28	chr22:28725400-28726400	Enhancers	Brain Angular Gyrus	brain
29	chr22:28725400-28726400	Enhancers	Colon Smooth Muscle	Colon
30	chr22:28725400-28728000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:28725600-28725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:28725600-28725800	Enhancers	HSMMtube	muscle
33	chr22:28725600-28726000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:28725600-28726200	Enhancers	Brain Hippocampus Middle	brain
35	chr22:28725600-28726400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr22:28725600-28726400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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