Variant report

Variant	rs16986400
Chromosome Location	chr22:28818030-28818031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	0.85[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	0.84[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]
rs16986433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883639	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17883954	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17886970	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35438111	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	0.85[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:4 , 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
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
2	chr22:28798800-28821200	Weak transcription	Dnd41	blood
3	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
4	chr22:28808400-28821400	Weak transcription	Gastric	stomach
5	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
6	chr22:28810600-28821800	Weak transcription	Adipose Nuclei	Adipose
7	chr22:28811000-28821600	Weak transcription	Pancreas	Pancrea
8	chr22:28816000-28820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:28816200-28820000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:28816200-28820200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:28816200-28820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:28816200-28820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:28816200-28826400	Weak transcription	Stomach Mucosa	stomach
14	chr22:28816400-28819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:28816400-28820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:28816400-28820600	Weak transcription	Fetal Brain Female	brain
17	chr22:28816400-28820600	Weak transcription	Fetal Lung	lung
18	chr22:28816600-28820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:28816800-28819000	Weak transcription	Ovary	ovary
20	chr22:28817400-28819600	Weak transcription	Brain Germinal Matrix	brain
21	chr22:28817600-28818400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:28817800-28818200	Enhancers	NHEK	skin
23	chr22:28818000-28818200	Enhancers	Osteobl	bone
24	chr22:28818000-28825200	Weak transcription	Fetal Brain Male	brain

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