Variant report

Variant	rs134512
Chromosome Location	chr22:28758908-28758909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs130411	1.00[AMR][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	1.00[AMR][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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35438111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	1.00[AMR][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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
2	chr22:28742800-28759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:28743000-28759000	Weak transcription	Dnd41	blood
4	chr22:28748000-28759600	Weak transcription	Fetal Lung	lung
5	chr22:28752800-28759000	Weak transcription	Ovary	ovary
6	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
7	chr22:28754000-28759400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:28754400-28759200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:28754600-28759200	Weak transcription	Adipose Nuclei	Adipose
10	chr22:28754800-28766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:28755000-28759200	Weak transcription	Psoas Muscle	Psoas
12	chr22:28755800-28759200	Weak transcription	Right Ventricle	heart
13	chr22:28755800-28759400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:28756600-28759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:28758200-28759200	Weak transcription	Fetal Brain Female	brain

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