Variant report

Variant	rs134502
Chromosome Location	chr22:28743597-28743598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10483148	0.90[EUR][1000 genomes]
rs10483150	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs130411	0.85[AMR][1000 genomes]
rs134498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134501	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134504	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134505	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134508	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134509	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134510	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134512	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134513	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134515	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134516	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134521	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134528	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16986244	0.85[EUR][1000 genomes]
rs16986248	0.85[EUR][1000 genomes]
rs16986251	0.90[EUR][1000 genomes]
rs16986254	0.90[EUR][1000 genomes]
rs16986257	0.90[EUR][1000 genomes]
rs16986266	0.90[EUR][1000 genomes]
rs16986311	0.90[EUR][1000 genomes]
rs16986314	0.90[EUR][1000 genomes]
rs16986400	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16986433	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16986438	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16986451	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16986469	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16986502	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35438111	1.00[AMR][1000 genomes]
rs5762573	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5762574	0.85[AMR][1000 genomes]
rs79104	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs79107	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs79111	0.90[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28736000-28744200	Weak transcription	Lung	lung
2	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
7	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
8	chr22:28741400-28744000	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:28741600-28743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:28741600-28744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:28741600-28744800	Weak transcription	Ovary	ovary
12	chr22:28741600-28747600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:28741600-28752000	Weak transcription	HSMM	muscle
14	chr22:28741600-28753200	Weak transcription	Brain Germinal Matrix	brain
15	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
16	chr22:28742000-28745000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28742400-28745000	Weak transcription	Fetal Lung	lung
18	chr22:28742600-28744200	Weak transcription	Right Atrium	heart
19	chr22:28742600-28744400	Weak transcription	Fetal Brain Female	brain
20	chr22:28742800-28743600	Weak transcription	Right Ventricle	heart
21	chr22:28742800-28743800	Weak transcription	Fetal Heart	heart
22	chr22:28742800-28744000	Weak transcription	Fetal Muscle Leg	muscle
23	chr22:28742800-28744200	Weak transcription	Psoas Muscle	Psoas
24	chr22:28742800-28746000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:28742800-28759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:28743000-28744000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:28743000-28759000	Weak transcription	Dnd41	blood
28	chr22:28743200-28743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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